Event ID: 1319120
Event Started: 3/12/2009 9:47:19 AM ET
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sustained
Good morning everyone. Welcome to the 18 g the meeting of the Secretary's Advisory Committee on Genetics, Health, and Society. I am Steve Teutsch, I have met most of you. The public has been made aware of this meeting in the Federal Register, as well as announcements on the SACGHS website and listserv. I want to welcome all members of the public in attendance, as well as viewers tuned in via the webcast.
We appreciate all of your interest in our work. Please note we scheduled two sessions for public comments, one at 12:45 today, and one at 9:00 a.m. tomorrow morning. Two individuals have registered to make comments, put there's still an opportunity for others to do so. We would just ask you to sign up at the registration desk. I would like to begin by welcoming the new faces at the table. We have five new members appointed to SACGHS.
First dar yen Gen, the director -- previously editor of consumer magazine dedicated to women with cancer, delighted you are here.
Dr. David Dale, internist, professor of medicine at -- and American college of physicians, we are dplieted you could join us as l.
Sheila wall cot will be here shortly, Sheila is now a partner with the law firm of McDill on the, emery, served as scientist for public health to secretary Leavitt and presented the secretary's charge on genetic testing.
Dr. Sam noses nos nawm will be here tomorrow. Sam also is responsible for Health Corps, the healthcare subsidiary. Shing seeing Sheila and Sam when they arrive. Dr. Charmaine Royal, at Duke University institute of science, post doctoral in the program at national human genome research institute. We look forward to having her here at the next meeting. Welcome to the new members.
The full biosketches for the new members are in your briefing books, and for -- we don't know about processing the new appointments -- they are all finished. Great, good to know.
I would like introduce a few ex-fishio members, at the last member, ex-- director of office of planning, and director of child and family development in research planning.
Peter Kirchner, biological research at Department of Energy filling in for Dr. Don Drel. Dr. Alberto giewtier ease, new product evaluation, in vitro evaluation and diagnostic advice.
StewartIshymayo -- the new ex-O fishio for the equal opportunity commission, will be serving as his alternate.
Kiry [indiscernible] we met in December.
Finally [indiscernible] the ex-O fishio for the Department of Defense until a permanent is assigned. As always, we really value the input from all members and appreciate your contributions.
One more update on our roster, as many of you may know, professor Paul Miller has begun a short stint as special assistant to the president and has therefore resigned from the committee.
We have five main goals for this meeting. First, we asked that ex-O fishios give us reports, developments since the last meeting, updates relating to GTC, genomic -- issues of concern. After that we will be updated on [indiscernible] for sharing genomic data, consider what steps to take in that data. At the end of today, McGrath, our education and training task force will provide preliminary findings from our surveys.
Tomorrow, we will devote our work to genetics in the future of the health system, and a round table of public and private payers to learn their -- as they relate to genetic technologies and services.
I would just like it are remind you, you are special government employees, you have standards of ethical conduct for the executive branch, and I want to take a moment to remind you of two of the rules. One is about conflict of interest. Before every meeting you provide information about your professional and financial interests, information we use to determine if you have real, potential conflict of interests to be objective in giving advice during committee meetings. We waive for general matters, we believe your ability to be objective will not be affected by your interest in such matters; we rely on you to be attentive during the meeting to the fact an interest could arise in a specific way. We provided each of you with a list of financial interests, covered relationships that could provide a conflict at your seat this morning.
As they become a focal point of deliberations we would ask you to recuse yourself.
Lobbying, government employees are prohibited from lobbying. We advise the secretary of health and human services, not the Congress. If you lobby in your professional capacity or as a private citizen, it's important for you to keep that activity separate from this committee. That's it, thank you very much, we appreciate how attentive and conscientious you are about these rules.
Thank you, Sarah. A few more announcements before we get into the body of our discussion today. At our meeting we prepared the draft report, that was released to the public on March 9, public comment period will be open until May 15, and we sin serial welcome sin welcome comment from -- on and thank the members and staff who worked so hard.
A number of organization have held meetings of interest, relevant to our work, since last meet. I would like to highlight a couple. The kick-off symposium for blood translation and policy on personalized medicine. The initial meeting, didn't want to get rid of the first speaker. Center at the University of San Francisco, Katherine Philips, attendees of the committee's work, recommendation concerning establishing clinical utility genetic tests.
Committee -- disorders of newborn and children, sister committee held a meeting attended by staff members. As a matter of process, our committee is no longer a formal liaison to the group due to a change in the charter of that group, but SACGHS staff will continue to attend.
The Institute of Medicine's round table on translating genome-based research for health was held in early February, included a workshop on developing systems for evidence generation, focused primarily on clinical utility. Members of the round developed a plan to -- subtopics, the effects genetics and genomics on drug development, genetic diagnostics and the potential value of genetics to medicine and public health.
In addition to roster changes, some new staff changes, [indiscernible] left at the end of January, took a position at Discovery Logic, we wish her the best. She's made great contributions to a number of our reports. We welcome Cathy -- joined the staff in January, 20 years of providing clinical and practical work in pediatric, people with [indiscernible] disorders, most recently at the Walter Reed hospital, genetic education, newborn screen.
Appropriately, given her background, Cathy is -- the committee on education and training.
Let me turn to the first order, to hear from our ex officio members. We will hear from many of them today, and tomorrow, but [indiscernible] who is the chief medical officer for the centers for Medicare, Medicaid, to talk about, as many of you are aware, we have extensive work with CMS related on coverage imbursement, reported issues. CMS has been working diligently on those, wanted an opportunity to talk about that.
CMS works within a closely regulated framework, has authority to do something, others from congressional mandate. I think what he has to say will be very enlightening. I know he has a deadline on the other end of meetings. We are delighted to have you here, appreciate your continued interest in the work of this committee. I would like to turn it over to you.
Steve, thank you very much, good morning to everybody. I apologize for having to leave a bit early, not being able to be here the whole time. As you can imagine, we are heavily involved, as are my colleagues from HHS, with the recovery act, the [indiscernible] bill, limitation of -- statutory mandates in addition to helping the new administration with the preliminary efforts on healthcare reform. We have a number of efforts on our plate.
Genomics, in my mind, is one of the issues that is seminal to healthcare reform. Something we haven't talked about in a broad setting. We will need to, and this committee has done some exemplary work that sets a wonderful base for a broader national discussion on genomics and how that fits into healthcare reform in general.
They are putting the presentation up, but I wanted to cover this morning, my time frame here, several things. First wanted to talk a little about the history of genetic testing in the Medicare program. We will go through that, get into some issues, and if you could go to the second slide, we will then cover some of the specific things you see listed on the screen here that we have been involved recent with recently, the last year or so, genomics in the agency, I wanted to elevate to a higher priority.
So, the first area, we will talk about coverage for genetic testing. This is an area that, in terms of coverage, for those of you on this committee, this is probably a frustrating and mystery yows area, why does CMS do what they do? Quite frankly, I am still figuring it out myself, having been at CMS for a few years. This is educational for me and you also. Referring specifically to genetic testing services, currently, we cover Medicare beneficiaries for genetic services when it is used specifically for the diagnosis of specific diseases. This is propped up historically. I will try to make the case, it's time for us to be re-thinking some of our policies. We cover cyto genetic testing under a national determination, we make national and local determination at CMS. About 15% of the coverage under Medicare are made [indiscernible] to national coverage decisions. 85% are made through local coverage decisions, I will get into also. The bulk of coverage decisions are being made by a contractor are medical director at a local level, guided by national guidance, but also local coverage decisions are made locally.
In terms of cyto genetics, we have, again, over the years a policy about, from a national level, definition of what we cover, cyto genetics. The definition here sounds more like something relevant when I was in medical school, cyto genetics being the microscopic examination of the appearance of human chromosomes. I am sure, Paul, you worked more than I have, there's been a tremendous change in genetics since we were in medical school. That's what is on the books now. I would suggest we need to refine that.
The second bullet defines what cyto genetic tests are deemed by Medicare, historically to meet reasonable and necessary for coverage. Reasonable and necessary is another very confusing term. It's never been very well defined, multiple attempts to redefine this. We are in the process of trying one more time, present to the new administration. Basically, if you use the term reasonable and necessary, the way the statute and subsequent regulation defined reasonable and necessary for coverage, basically a service, treatment, device that one will lead to improved outcomes in a patient population that's relevant for the Medicare population. It's not just does something work, is it safe, et cetera, it has to lead to improved outcomes for Medicare beneficiaries. The official ones listed as definitely being reasonable and necessary I have listed. Genetic disorders in a get us, leukemia, acute leukemia, Milo dysplasia, this is obviously a very short list of relevant cyto genetic tests. I think we will be struggling in the very near term with how to expand this list, and in doing so we have to add here to this definition of reasonable and necessary.
So that's cyto income cyto genetic testing. The administrative contractors who pay the bills for us will interpret that national coverage decision at a local level. They have authority to have some leeway. We can give some guidance, but we can't overturn their decisions, and they will interpret the national coverage decisions. They have the opportunity to make local decisions. This is a key, key debate going on for decades. Why have local coverage decisions evolved? Especially in this modern age where, where why not have national determinations, what's the difference between the North East to the southwest in terms of genetic testing coverage. I happen to personally fall on to that end of the spectrum, I think we should be centralizing things more. This process of allowing local coverage determinations evolved over the last three or four decades. You start delving in, it has relevance, more so in the past where decisions did vary regionally. Standard of practice was governing how people practiced medicine, not evidence-based guidelines. As we evolve to the latter, I think there's argument to make more national coverage decisions, particularly in complex areas where the resources, particularly the subject expert resources are not available at the local level.
Be that as it may, this is the way the law and regulations currently stand. The administrative contractors, absent national coverage delineation, including genetic diagnostic tests are covered within their regions. The advantage of LCDs have been said by some, they are more flexible. Some would say they are too flexible, note prescriptive enough. They may be more responsive to local needs, situations, that's true historically, but the counter balance is they may not need local influences beyond opinion. Finally, they permit local input without coverage. That could possibly be relevant because of certain populations in a geographic area, other parts of the country aren't sensitive to. For instance, Indian health centers, on the reservation, people in other parts of the country know nothing about Indian health and customs.
Particular advantages to LCDs, we get different determinations between different -- [indiscernible] less -- covering something if we had broader national input there might have been a different decision in place. I mentioned earlier, local resource constraints, they just don't have the subject expertise at the local level. That's likely.
If you go to, on the CMS.gov website, we have a national and local decision database, you can find out what LCDs are present or not. Right now they are somewhat limited in terms of local carriers having local coverage decisions in place. I listed the two main ones. Again, woefully inadequate compared to the number of issues we talked about at this committee.
Next slide.
Some caveats or general principles, if you go to our coverage decision handbook, again developed over a number of years. These are in place now, arguably up for review. When we get into tomorrow's session about going forward, I think this is one of the things that Mara is going to charge us with addressing. Keep these in mind for tomorrow, scenarios we ought to be considering.
First, genetic tests for cancer are only covered for a beneficiary with a personal history of an illness, injury, or signs or symptoms there thereof. A person with a history of relevant cancer is a clinic affected person, even if the cancer is considered cure. Genetic testing is non-covered for patienting with a relevant, injury, sign or symptom of the disease, so if they are A symptomatic, have no evidence of a disease, under the current statute, regulations, that genetic test is non-covered. That's been problematic, we discussed that here.
Second caveat, predictive of -- in the absence of past or present illness are not covered. I kind of said that, but specifically, an issue that's come up here frequently has to do with family history. Under the statute, regulations, Medicare does not provide genetic tests based on family history alone. How we int great fame integrate family history into --
Must be used manage a patient, we do not cover a genetic test for an individual for family planning, disease risk assessment of other family members when treatment, surveillance will not be effective or in any other circumstances that does not of act the treatment of the beneficiary. Under current statute, regulations, we are limited by that.
Question: Does diagnosis constitute a form of management? I am interested in the wording in the previous slide. It does not directly affect the diagnosis or treatment of the beneficiary, simply making a diagnosis --
Can be used in making a diagnosis -- the patient has to have signs or symptoms to lead you to want to get that test to make the diagnosis.
Okay.
Question: Has to be the patient, not a family member of the patient, as well as the other key points to that slide.
That is correct. Potentially a limitation in some circumstances.
Again, the fourth caveat, results of genetic tests must affect at least one of the management options by the physicians, in accordance with acceptable standards of medical care. Some examples we listed might include surgery would be done, might judge the extent of the surgery being done, change surveillance pattern, implement a [indiscernible] manipulation, change in drug dosage, all are examples that might justify genetic testing.
Next slide. The fifth caveat, questioning at counseling must be provided by a trained practitioner. What is a qualified and appropriately trained practitioner? Two, more importantly perhaps, we can agree on that perhaps, to get reimbursed or not for the services.
The sixth caveat, informed consent form must be signed by the patient, include a statement he or she agrees to post-test counseling if that's required, Medicare has to supply the form to whoever needs it.
Finally, genetic analysis must be provided through a laboratory that meets the American science of clinical -- listed here. Again, these are what's built up over the years, there are reasons for why they came to be, but there are barriers from some, if not all of these I listed, mentioned here before. Our challenge is to go through those sequentially over the short or intermediate term, with new political leadership in place, different Congress on the Hill, and think about ways these should be changed, or not, and if so, how are we going to change them.
Next slide. I wanted to talk about some of our activities in terms of how we are looking at new diagnostic technologies. Within CMS, there's a special council on technology, innovation. This was established after passage of the Medicare modernization act of 2003. An appointee from one the agency, I am the co-chair of the chief medical -- this council is supposed to facilitate exchange of information that new technology as it comes up, raises questions about payment policy and coverage. And help enhance, coordinate a response to inquiry from the general stakeholder community when there are questions about new technology, whether or not it's covered, coded or paid for.
One thing this council has done recently, we published this last fall, it's on the website, references at the end of the slide presentation, we published an innovators guide to navigating CMS. It took several years to dock. document. You can understand there's a need for such a document. Again, this guide is publicly available now. It's a start to help assisting stakeholders trying to understand the processes used to determine coverage coding, paying for new technologies under the fee for service program. It provides summarized simplified, materials for guidance, tries to facilitate timely introduction of innovative technology for care.
This is a reference for you, this only goes so far, and again, I am fully committed to trying to link up the council on counsel technology and innovation. We have to take things back to the CTI from this advisory, have that council -- some of the recommendations made to the secretary, without even upon waiting for the Secretary to determine whether he or she wants us to address those specifically.
As part of the CTI, I established nine or 12 months ago a [indiscernible] working group, specifically on issues of genomics and personalized medicine, obviously there are many innovations that come up. We are the most behind on genomics and personalized medicine, and we are going to be more effective, arguably, by genetics and personal medicine technology over the next several years. I refer to it as a tsunami, and it's getting very close.
Again, the issues we deal with are listed here, addition to coverage, payment coding in the working group, we include CLIA issues. We have to look for alignment across not only Medicare fee for service, most people see CMS as running, but also the Medicare advantage program, managed care program in the Medicare, and I am happy to see we are, with the new administration there will be something a lot of us wanted to do for some time now, that is to get Medicaid, the chip program in alignment with fee for service. We will see that, focus on genomic issues across the product lines.
We have personalized healthcare issues that go beyond genomics, but this is a place we will coordinate within CMS. We have increasing relationships with our sister agencies in HHS to collaborate more on these topics.
That covers that particular focus within the agency. It needs to be done, I think, in a much more rigorous and focused manner than we have been able to achieve so far. A change In administration is a perfect time -- [indiscernible]
Evidence and coverage of testing under Medicare is another topic we work on every day. In addition to the national and local decision-making process, we have other technical advice being given to CMS. I wanted to talk about is some of the genomics issues that have come up recently. We have what used to be called the M CAC, we changed that to Medicare evidence [indiscernible] to put a focus on the generation of evidence, decision-making in the agency. Again, this advisory committee entails 100 people we appoint, they sit [indiscernible], broad rei representative of the stakeholder community. We pick that from 100-member panel the specific people with the most subject expertise to advise CMS on specific topics with the med CAC meeting several times a year. It's a [indiscernible] committee, the very specific prescriptions about who sits on it, how they can advise us. It's similar to the advisory committee.
We also seek outside technical advice, not only from this committee, but through the agency for healthcare research and quality, and track academic medical centers to provide assistance in a number of clinical and scientific areas. The med CAC, we can charter to the focus on specific issues, and pursuant to what we have been doing over the last six to 12 months, I sat down with staff, we had a recent med CAC meeting February 25, reviewed current recommendations about the evaluating sources of patient focused out comes from genetic testing, had them focus on diagnostic applications, prognostic applications and pharmacogenomic applications at this meeting. I will talk about the highlights in a second.
We have our second Med CAC on June 6. I anticipate this will an I regular thing, once a year we will strive for genomic issue to be on the docket.
The February 25 meeting, again, the participants did recommend we ought to use a standard framework and methods, delineate this in the form of guidance document in terms of how we are going to evaluate evidence about diagnostic uses of genetic testing. That's one assignment we will have on the plate here over the next year or so. They also recommended we include clinical evidence with [indiscernible] high internal validity of patient outcomes due to the use of genetic -- care management. Encouraged collaboration among CMS, other federal agencies involved with research and healthcare in genomics. We come out with slightly different viewpoints sometimes about how to interpret clinical studies, we have different statutory functions and some of that is natural, we are trying to get alignment with what we are striving to seek. The second bullet, I wanted to stress again, we are really going to focus as we go forward on evidence-based patient-focused health outcomes. Again, in terms of driving the decision-making regulations and so forth about genetic testing.
Another side thing I don't think I mentioned at this committee before, but we are working on, preventive services were not originally provided. The original Medicare statute, no preventive benefits. Congress added these services, interestingly, starting in the early 1990s, or late 80s. Over the 10 or 15 years, preventive service is added by statute, Congress, individual preventive service basis. As you can see, we have preventive services, some of the areas, breast cancer, prostate -- still a whole host of services that have not about been implemented, covered underMedicare. The implication for genetic testing, preventive modality falls into this area, statutory authority is not there. We are going to get statutory authority or, put on the next slide, we did receive, under the Medicare improvement for patients and provider act of 2008, passed in July of this past summer, section 101, authority to the secretary and CMS to consider additional preventive service benefits through the Medicare coverage decision process. Interestingly, this is one of the few areas Congress actually, in the language allowed us to use cross-effective language in our decision-making process. This is a very important modality that may allow us to start addressing genetic testing issues without waiting for Congress to actually give us this specific mandate.
In May of 2007 the Med CAC will meet again to consider screening uses of genetic testing as a preventive service benefit for Medicare. This Med CAC will advise us on [indiscernible] and address some of the issues you all have be recommending for some period of time.
I wanted to do a brief overview of what's happening with CLIA, another important area you folks try to get your arms around, made good recommendations. Under the current CLIA regulations we continue to certify labs where CLIA is applicable, update the clay CLIA database, various issues lessed here, provide standards for moderate and high -- includes genetic testing. There have been discussions about whether genetic testing should be separated out into a specific, different, high-complexity laboratory testing. So far our policy has been that whatever applies to other high complexity testing should apply to genetic testing, there's relevant things to genetic testing that could apply to other complex testing, align those, but we have not found a reason yet to separate genetic testing out of the special circumstances.
To promote a high quality expert level of laboratory performance, we have been meeting with federal agency partners, professional site societies, and stakeholder groups. We will continue to do that, particularly with guidance from this committee.
We are continuing to try to adapt current regulations to current -- something we will continue to work with, CLIA folks, have been very open to this. We will talk moreover the next year to how we can update current regulations to meet the needs of genetic testing.
We have some additional CLIA projects listed here, I won't go into them in detail. They are in your paper.
Educational standards, writing, revision of regulations, so forth. So, what any about going into the future, the national coverage decisions. Currently we have a pending national coverage decision on genetic testing for [indiscernible] effectiveness. Opened the national level to consider coverage for genetic testing to determine way for in responsiveness, they evaluated current evidence from published articles. We anticipate the published decision should be out relatively soon, no later than early May. Am I am sorry -- I was almost hoping we would have this out by this meeting, but we don't, I am not at liberty to discuss what the proposed decision may be. I can say, if you loop back to what I said earlier, we need to see under our coverage decision process, the term reasonable and necessary, things have to lead to improvement in health outcomes, just measuring a porcelain level to determine whether pores lane porcelain is high or low in a body, it has to be for health outcomes. To determine W responsiveness, does the evidence show the use of that test leads to improved outcomes. There will be a proposed rule, decision put out, be on the look out for that, public comment is engaged, 30 days after the proposed decision is there. We can change proposed coverage decisions if the public input is sufficient to sway things, and that can include new evidence, evidence not brought to our attention or pointing out we misinterpreted evidence used in a coverage decision. So, soon to come.
We have also, people should know, we invite at all times public participation in determining and prioritizing topics for consideration. Anyone can request a national coverage decision. We have had people coming to talk to us about genetic testing, particularly in the area of pharmacogenomics, screen are for inheritable forms of cancer. We are open to questions about these, how people might go about proposing coverage for -- the key stumbling block is that people have to present evidence that might be interpreted in a way to actually verify that we should have a national coverage decision on a specific test or what not.
You can't just send in, we would like you to consider such and such, without having done some homework, given a reasonable possibility we might be able to make a coverage decision. We can't do all the research up front.
complementary to this, we published in December 2008 on the website, 20 potential national coverage decisions we put out for public comment in terms of things we came up with based on suggestions from people in the general stakeholder world, or we did with internal brainstorming. Two areas put here we think are ripe for potential topics are gene expression in oncology and pharmacogenomics testing, and we have the wolver in testing decision, obviously others are to consider under these entities. We have given notice we will be considering going forward, areas in genetic testing for national coverage decisions. These will be the two areas we propose next.
This just lists some considerations that we take when we are considering possible future NCDs. This is reference to what I had before. I will conclude, final slide is contact information if you want to get ahold of me. In conclusion, we are doing a lot of things. Two years ago we were hardly doing anything at CMS on this, focused on other issues. This is so important and this committee has brought increased awareness to CMS, HSS, other agencies, and with your help I think we will do the best we can to address these issues.
Thank you very much. Extremely helpful. Those of you who have been on the committee for a while will recognize the responsiveness the CMS has -- [indiscernible] things a little beyond, with Congress, very helpful. We appreciate the level of responsiveness, and your leadership in moving those forward. Many things we have had conversations about, it's terrific to see these actions. [indiscernible] Med CAC, expanded the role, not just for specific coverage decisions, but to begin to look at criteria will be extremely important for -- people who need to develop tests, other things to get a better handle on the kind of evidence necessary. Many thanks to you for that support.
We have a moment for a couple inquiries?
Two comments and a question. I share Steve's congratulation says on a nice presentation about what you are doing. The first comment relates to personal experience with local coverage decisions. I was on the Wisconsin care advisory committee 14 years, which, understanding there's high degree of variability in the quality of committees and whether or not the local carriers are doing it as pro forma be in compliance or actually use it. I will use the cyto genetics as an example, since it was our local carrier that cited a variance from the historical use in the statute and regs. The advantage of the local carriers having, if constituted correctly, the ability to be much more nimble. If you look at large companies innovative, the innovation usually does not come from the top, but from units in the company that bubble things up. One of the changes that occurred over the 14 years that I was there, the venue for the local carriers to together the -- to talk about what they were doing with local coverage decisions, a number grouping around the area, identify topics that would bubble up to the M CAC, sometime in the early to mid-90s. Seems that's an opportunity that really should look at way phos take advantage of it. I don't disagree, it's certainly opens the opportunity for self-interest. In our group, if somebody came, presented something clearly self-interested, not based on guidelines, it was the physicians that did the police pleasing, police poo-police-ing.
I found a pragmatic decision, Louis Carol, to paraphrase hump tee dump tee, medical care means exactly what I say, neither more nor less. It does reflect how we use that term. The question relates to the upcoming meeting of the Med CAC in May 2009. One of the recommendations for coverage was to specifically engage with the Med CAC around evidence-based family history interest analyzing whether or not it would be possible to take family history where there is evidence and in fact recommendations that this is important in terms of generating testing, that that be considered by the M CAC, be used as a surrogate for a history of disease. Is history in-bounds or out of bounds. As I looked at the language, USTF recommendation, for breast cancer, ovarian, there's a recommendation as to family history, defined, would meet the criteria you list there. I am curious as to whether or not this would be a opportunity to actually act on that recommendation from this group. Gree that's a great point, Mark. Timely, in that we haven't fully gotten all the agenda, content of that meeting. In my opinion, that's one of many topics that would be helpful to get input, even if it's preliminary. The family history issue is still extremely problematic in terms of how -- it makes logical sense in a discussion about the issue, but when you try to operationalize things, particularly when you get into payment and reimbursement based on somebody's recollection or misinformation passed down in the family, other issues. Especially as we are having to focus on keeping costs under control of the healthcare system, that's the most problematic part of it. I think that will [indiscernible] my colleague will have to make sure we go back and [indiscernible], thank you.
I want to thank you very much for the presentation. I am excited for the issues you are working on. Let me bring up a point to come to light. I have been working with several Medicare local directors in genetic testing throughout the country. I found it -- the use of testing, but also -- [indiscernible] [audio static] have been a lot of denials for that type of technology. So, with that, in mind, significant differences, [indiscernible] from other countries, I think they need to be addressed for that. Secondly, if you have a center for technology, innovation, I wonder if there was change, interaction between the report, work study group, directors at the local level to start getting them up to speed on some of the issues you are discussing on the national level.
Okay. I will take the second one first. There is increasingly more interaction. One thing I have been meeting a lot of outside stakeholders with input to that. Went the other day, to the American Association of Academic Health Centers, they have concerns that clinical trials, coverage, payment, policies were out of synch, or inconsistent. We are going back, trying to get all the folks involved to make sure we can do that. Similarly, I think it's a venue where when we find payment and coverage is not in synch, we can take it back. Internally, the out synch is different parts of the agency. We find they, at the carrier level, we go back to the carriers. I have to say that the other issue about the carriers, back to your first question, that one of the factors that generates a national discussion is an inconsistency in carriers. If it is brought to our attention, if they are implementing policy, out of compliance with national coverage decisions made, the other rub would be if they are not consistent with each other. If that's brought to our attention, we may offer the national coverage decision to make sure there is no coverage there after. If the issue you are raising is they made a coverage decision, but you don't agree with their coverage decision, the first rective cages is to have them go back, coverage decision, if there evidence is wrong. I hope that is clear.
Question: [indiscernible] not just always reacting -- more education, information about what some of the technology centers you have actually explore.
I can, it's a very good question, it's problematic partly based on statutory requirements and regulatory requirements also. The local carriers, by law, have discretion. Literally every case they are reviewing for any coverage decision, technically is a local coverage decision. They have the authority to look at a given case, interpret Medicare law, et cetera, as to whether Medicare should be paying for a service. Most of the time, obviously, claims come in, paid, people don't look over the details, assume people are doing things correctly. It may roll into an individual case. The rationale behind discretion is that on the individual cases they will have some flexibility that we are not able to tell them what to do on each individual case.
Since we can't tell them what decision to make, we are not also -- authorized to educate them, the resources to do that in terms of keeping up to date on every technology that's out there. That gets back to what I consider a weakness in the system. They have limited resources, too. It's a problem. I don't have a good answer for it.
[indiscernible] from some of the local -- varies place to place, too. [indiscernible]
That is correct, and I think some folks would say with the advice they are getting is by biased, undergoing contract reform -- as you probably know, rather than having carriers and fiscal intermediaries, like my home state, California, two contractors for a while. We now have, the total is 15-something Medicare advisers, administrative contractors, max. It's making fewer of the contractors which should have a consolidation of resources and expertise because they are bringing together what used to be separate companies into one big -- and fewer advisory committees. Might help improve matters, remains to be seen.
Time for one more?
Yes.
I wanted to ask about the scope of the problem, or the database or as a member of the profession or public, how could I know what's paid for one place or another. Do you have a handle on that?
Yep, David, another good question. Although it's bulky, and cumbersome, the coverage database we have does have tons of information. I go there myself, asking the same question when it's brought to my attention something is going wrong in a certain part of the country. We need to improve the terms of the searchability. It is searchable, pending decisions, final decisions, looks at national coverage decisions, local coverage decisions, includes all of the Macs out there now, their policies. In addition, locally, if you know for your particular region who the Mac is, you can go to their website, which is probably a little more user-friendly for that local area. They will refer you in terms of national coverage decisions to the CMS website. The two main things. There's lots of information there, searchable, if you want more in-depth locally you can go to your local website.
Thank you. This has been extremely informative, working with you and your colleagues, hope to see you again tomorrow.
Thank you. I appreciate this committee's work very much. Dr. Jeff roach will be sitting in for me the rest of today, tomorrow. Jeff was extremely helpful, gave him the framework, he helped with the presentation. Once again, thank you for all your help.
Thank you.
Before we get into other -- first, Sheila?
We introduced you earlier, you met -- the committee before, welcome. Talking about e-mailing, Blackberries, if we keep the Blackberries off the table it would be helpful. Not to say --
All right, let's -- some today, some tomorrow. Unfortunately we don't have time to hear detail, about what's going on in each of the other organization. We know there's a lot. Ask folks to keep comments to three to five minutes, really hard to do. Hopefully we can revisit some of that, quick updates, at least today. We will start with, Kerry -- Kelly [indiscernible] we have to get this right. It's Kelly, right?
It's Kari.
Good.
I like that. Really nice.
On behalf of the [indiscernible]
Thank you, I am Kari -- senior attorney adviser at the Equal Employment Opportunity Commission Everyone here probably knows this, the federal agency that enforces federal laws prohibit employment discrimination on the basis of age, race, gender, retaliation for activities. In 2008 we got a new responsibility, when the president sign the genetic information non-discrimination act, or JENA. Title I addresses genetic information in the healthcare industry, administered by -- and title 2 becomes effective November 21 of this year, prohibits the use of genetic information in making employment decisions, prohibits the acquisition of genetic information by employers, and strict confidentiality requirements for any genetic information an employer does obtain. Importantly for EEOC's role, it requires us to implement regulations by May 21, 2009. We will make it pretty quick.
The past year we have been working on drafting a proposed rule. On March 2, couple weeks ago, we published that rule in the Federal Register. Prior to publishing the rule we had a commission meeting where we discussed what was in the rule, and we heard from some invited panelists about the impact of genetic discrimination in the workplace. Those are the first comments we received about the rule. If you are interested in seeing those statements, commission meeting, as well as -- rule-making, and a question and answer document that goes over the basics of the proposed rule, you can go to EEOC.gov, commission meetings, held on February 25. You hit the link, notice of proposal making, statement of -- and I will tell you now we will be accepting comments about the proposed rule until May 1. It look 1 explains how you make comments. The notice is about 60 pages, I don't have time to go into it in much detail. I will hit the highlights so you have an idea.
First, the fact sheet, proposed rule include detailed description of what we mean by genetic information, includes, for example, information about an individual's genetic tests, information about the genetic tests of family members, and information about the manifestation of the disease or disorder in family members or family medical history. Basic rule are that [indiscernible] prohibits the use -- employers from clib deliberately acquiring information about employees, and if an employer gets hold of genetic information they have to treat it like confidential medical information. The prohibition on use of genetic information to make employment decisions is -- in other words a covered entity may never use genetic information in making employment decisions.
The prohad hib prohibition has some requirements, details in the statute, more detail in the proposed rule. There are six, pretty narrow, essentially to cover situations like the first one, a water cooler exception basically. If a supervisor overhears coworkers, for example, talking, one of them happens to say my mother just had a test for breast cancer, they have acquired genetic information. If you acquire unwittingly, not seeking, came into your hearing, that won't be a violation. Other exceptions, you receive information because someone asked for leave under the family, medical leave act, in supporting the request they provide genetic information, that won't be a violation, but in general, any deliberate acquisition, seeking to violate GINA, would do that. When employers obtain information through exception, they are required tho treat it like any other kind of confidential information, and they have limited reasons to disclose it that are very similar to reasons under the Americans with disabilities act. Someone from a government agency is investigating, they might need to --
Same remedies, found to have violated title 2, the individual could be reinstated, promoted, back pay, compence tore damages, and pun tif. The remedy, enforcement, the idea that the EEOC already has expertise on how to deal with title 7, and [indiscernible] enforcing title 2 of GINA. The proposed rule is 60 pages, a lot of detail, we are cach accepting comments until Ma May 1, I encourage you to --
I am going to move on, we have a lot to cover. We asked each of our ex officios to talk about new programs they have particularly related to our mission and anything they can say about things they are doing in response to the American Recovery and Reinvestment Act that can be publicly disclosed.
Apologies, Mara, let's move on with --
Most of you are already familiar with our agency, but our mission is to improve the effectiveness, safety, quality and efficiency of healthcare. We do it through looking at the evidence, improving the evidence base as much as we can, evaluating it and using that for informing decision-making in a variety of contexts. You have in front of you a handout, one page, double sides, different kinds of -- it is one page. That lists all the categories that -- conceptual differences our agency is engaged in. First category is on assessing the evidence, evidence evaluation, which is used for making clinical guidelines or recommendations. The two examples I have highlighted here are for the U.S. preventive services task force, sponsor by our agency, and the working group sponsored by CDC. The one you will notice is the topics for the task force are on clinical prevention. The topics for -- more on treatment, management, clinical contexts.
Apart from guideline developments, we work with the different stakeholders to look at the evidence base. There are different kinds of evidence reports done by our evidence-based practice center program, and going to Andrea's comment about how can we inform decision-makers about things rapidly happening, we have done a couple of -- on emerging genetic tests on [indiscernible] conditions, a more broad look at the evidence, not an in-depth review. One way of trying to address a significant emerging test.
I would highlight here, we have work on family history, two reports funded by the CDO on cancer family history, one in 2007, one will be released in a few days. [indiscernible] another NIH sponsored project on state of the science on family history and family care, which will be a conference scheduled later this year.
All of these projects are on the evidence based evaluating and giving the best information and quality of information. We have a hetero -- some are agreements, [indiscernible] research, and some are regular RO 1 and other grant-funding mechanisms. The ones I highlighted are all underway, the ones in regular text. The last -- on the other page, one category, submitting the knowledge from our evidence assessments from the evidence, and these projects have been done by the [indiscernible] Arizona, critical path institute, and the fifth category is on implementing evidence-based recommendations into practice. We are -- BRC testing, and gene expression profiling tests. That's underme. In the last category mentioned, conceptual framework, improved methods to have better consistency of how we evaluate the evidence and utilize the evidence --
Anything you can say about the stimulus package?
It's a lot of work going on right now.
[Laughing]
In one sense, unfortunate, we have built a track record on comparative effectiveness for the past three years, the three elements built, assessing the evident base, creating new evidence and [indiscernible] the information in useable format, with all the [indiscernible] in the upcoming programs, might be new ones, but still the main thrust of what we are doing in that field.
Thank you very much.
Let's turn to Phyllis, who -- [indiscernible]
With my mic on will help. [indiscernible] little that interests people more in NIH than, certainly -- [indiscernible] NIH received a total of $10-point four billion dollars, received 27 billion, this is a very substantial proportion of our total which creates wonderful opportunities and a lot of food for thought on the best way to disburse, to achieve the aims, and the scientific goals. Any questions or comments I am happy to answer, anytime. The goal of the act is to create jobs, not exactly in line with NIH, further scientific progress, and -- a good word to foster the American public, some obvious things are unfortunately not obvious. In terms of the 10.4 billion, how it breaks down. 1 billion for extramural construction, the center for research, resources, one of the 127 institutes and centers. There's $300 million for shared -- purchases, again, allocated to NCLR for support of NIH activity. [indiscernible] for buildings and facilities, the only money, actually a little bit of instrumentation, pretty much the only thing that stays on campus. Congress no doubt -- money that goes out the door to their own district. As well, in terms of effectiveness, there's 400 million to the NIH through [indiscernible] and of that, doing the math, what is left over is 8.2 billion in scientist research priorities. Divided between the institutes, appropriation is the same percentages. I can speak to NIH percentage, about 5% of the budget, or 127 million, a quarter of our [indiscernible] spent over two years. I should point out that two years in government time is not actually two years in -- because we are already about half way through the year, it's two year system like 18 months, the money has to be spent, out the door by the end of fiscal 2010, the end of next September. Of that 8.2, 7.4 goes to the [indiscernible] centers and the common fund. 800 million to the office of director, not including common fund money, and supporting scientific related research activities that align with the overall focus of the act. This is a job, financial stimulus package. In terms of how NIH anticipates the money, I can say there have been no end of discussions, about the right way to do so, my federal colleagues will no doubt understand. Those conversations are broadly going on, [indiscernible] and really trying to rely in a way that's best for the scientific community in this exceptional case. Primarily the case will go to funding RO 1s, Congress' -- investigative research.
Primarily, we are not able to pay in the previous budget constraints, et cetera, only for two years of funding, likely scenarios are smaller amount of specific -- aims, 401 doesn't compress into two years of research no matter how many people you have in your lab. That's an editorial from --
NIH is going to fund administrative and -- over a two-year period, focusing on challenge grants, designed to focus on health and science -- [phone operator interruption.]
The goal is for health and science problems, progress can be expected in two years, and I was going to get this at the broad NIH level, but there were a lot of really [indiscernible] stuff in the challenge grant, including authorities. I wanted to break out a couple pieces.
Go to the NIH website, whenever we are allowed to say, increases by the day, You can't hear me?
The most uses of these high priority topics, challenge areas, the area of bioethics.
Access, ethical issues, translation of clinical practice, unique issues posed by emerging technologies, electronic sharing of health information, contact issues, geno type, genome study issues, biomarkerrer -- clinical research areas, integrating cost effectiveness, personalized drug responsiveness, broad area on enabling technologies, new computational -- clinical trials, specifically for genetic patient registries, whole chair on genomics. Genetic genomics of eye disease, the list goes on and on. The value of me going through it is decreasing the more I speak. I would encourage you to go to the webs, all there, broad amount of information that speaks to all of it. I will do a quick check to see I haven't forgotten anything important. Thank you for your attention.
Thanks, Phyllis. A lot of interest in all of that, the deadline is late April.
[indiscernible] from the office of civil rights. Good morning everyone.
[Captionertransition]
We are part of the office of secretary of --
--Our other area of major responsibility is to be HIPAA privacy will. You can see that our activities will stretch across the department. Like other federal agencies, we have been very involved as of late, both teeone the recovery Act efforts, as well as healthcare reform initiatives. Since we had last met, we have been involved in number of activities. I want to highlight for the committee. It is of relevance to this committee. The first area is that the Office for Civil Rights has a particular responsibility under the rule making process. That responsibility is to modify the HIPAA privacy role to ensure that health plans do not use or disclose genetic information that is protected, health Information for underwriting purposes. So, that is a more narrow scope than the responsibilities of EEOC and the Department of labor and CMS who have responsibilities for employment, nondiscrimination and health plan nondiscrimination aspects. We have been working very closely with EEOC, labor, CMS and Treasury in the rulemaking process to make sure that we are coordinated as we move forward and as Carrie said, EEOC was the first out of the that with notice of proposed rulemaking last week ago the Department of Labor, CMS and Treasury issued a request for information, actually, last October, with a 2-month comment period that ended in December. We chatted about that at the last meeting. We have been working with them at OCR, as we move forward with issuing a rule under GINA and expect by May that we will both be issuing our regulations that will dovetail one another. Another major area too which we have been involved is health Information Technology. As you might be aware, in mid December, the department issued and a privacy and security to kit that OCR was very embolic in developing with our office of the national coordinator here at HHS. As part of that tool kit, we have very specific guidance that applies to the HIPAA privacy Rules to various principles of protecting the privacy, confidentiality, security of electronic health Exchanges. We have particular focus in that guidance on access to records, as well as personal health records. We have all of the intermission posted on our website, which you can easily find through H HS.gov/ OCR. We have a newly-designed website that, hopefully, people will find very easy to navigate. There is a Hopis on the website on health information technology with this application of HIPAA privacy will principles to Electronic health records and electronic information exchanges in the health care context. These activities in December were at certainly, a foreshadowing of what we are now currently facing under the recovery Act. You might be aware that as part of the recovery Act, there is a whole separate act that is called high-tech, for short. I always have to refer to exactly high-tech actually stands for health Information Technology for economic and clinical healthcare Act. This high-tech act is devoted to health information technology and use of health Information Technology in healthcare reform. There is a particular part of the act that specifically applies to the HIPAA privacy and security rules. That part of the act, subtitled D, entitled to privacy, requires the department and OCR, in particular, to take three major activities, the first is to engage in a series of rulemaking, but to modify the HIPAA privacy Rules to issue numbing series of guidance, and of notes, the high-tech Act, now will cover the business associates as a covered entity under the HIPAA privacy Rules. That is a significant new development. And also, now, requires the department to promulgate regulations to cover, reached notifications, to individuals that are impacted by breaches of unsecured Information. So, that will take all of these regulations, guidance, that are required under the act, will happen within now the next 11 months. Some of them well curve as soon as next month. We are our a very tight timetable to implement these new regulations and pieces of guidance. The second major area is the increased enforcement under both the it HIPAA privacy and security role and the act, actually, it changes the enforcement of the HIPAA privacy rule, increases the amount of penalties that we can collect from violators of the role. Also, for the first time, it gives authority outside of the Department to enforce, civilly, the authority to state the attorneys general, and bring actions in federal court where there are alleged violations of the HIPAA privacy or center Tirol in coordination with the Department. That is another whole area. The department, of course, will be involved in training state attorneys general, to ensure consistency and uniformity in this role. The third major part of the OCR piece and the high-tech Act is the in terms of public education. Congress has instructed the Office of Civil rights to engage in a Nation-wide, multi-faceted initiative to educate consumers about uses and disclosure plaits of protected health information, as well as their right under the HIPAA privacy role. That is something we need to develop and maintain within the next 11 months. You can see that we will be busy, along with our partners in CMS that are responsible for the HIPAA security role as well as the office of the national coordinator. The high-tech Act does institutionalize that office and also allows grants for promoting the use of electronic health records as well as standards in health Information Technology. By comparison to NIH for this portion of the act, small potatoes, certainly, big dollars for the Department. There is a total of $20 billion under the high-tech Act, the majority of which, 18 billion goes to CMS to distribute to providers, to promote adoption and use of electronic health records. Then, there is 2 billion that comes to the office of the national coordinator. There is a department working group that has been set up to develop proposals and a spending plan to bring before the leadership of the department that has been meeting on a regular basis to look at all of the spending plans that have come out of the recovery Act to make determinations and the most appropriate use of the fund's. Let me, because I know we are short of time, let me just highlight a couple of other things. Let me just highlight one additional aspect that I think is important for the committee to know about. That is, in January, as part of the surgeon General's release of the new Family History tool, we took the opportunity to also provide information through frequently asked questions about the HIPAA part is the role and how it impacts ability to collect and use information under the HIPAA privacy role. That is also on our website and is now made valuable addendum to the family history toolkit. That and other good things on our website, if you go on, the public, it will give you some insights into other activities.
Thank you. That hits the impact, rather broadly. Thank you for that. Let me turn to FTC and Sarah biomarker good morning. My name is Sarah and I am an attorney in the division of advertising practices with the Federal Trade Commission proposed to provide them bit of background. Probably, most of you are familiar with the FTC, the National Consumer Protection Agency. Our mission is to prevent unfair and deceptive practices that would include misleading advertising. In the diversion of advertising practices, one of our focus this is advertising claims for products that claim health benefits. We think that is particularly important because consumers not only can lose money, but potentially have health impacts if they are misled by advertising claims in that area. That includes over the counter drug products, dietary supplements and also direct to consumer advertising, and genetic testing. In the past, my predecessor who is here, worked with CDC and FDA to put out a piece on genetic home testing to let consumers know about the limitations and what kind of information you can get from those tests and to recommend that they consult their healthcare practitioner when using and interpreting the results of testing. Consumer education is a big mechanism for us to help prevent consumer deception and, it in addition to that, we do law enforcement action, also work with industry on self regulation, where possible. Currently, in this area, we are definitely open to considering additional consumer education, if we can help consumers with any new information about Developments in genetic testing. We do have a couple of inquiries, right now, with some of the companies that are advertising comment directly to consumers. The inquiries are not public. I cannot really provide much detail. We are talking to the companies and reducing their advertising and comparing it to the state of science right now and, hopefully, be able to have some action is year.
Great. Thank you, Sarah. Let's turn now to the Department of VA and Doug Olson. This is Doug and I am here for Elen Fox. Our patient care services is currently in the process of hiring a director of molecular medicine to oversee and coordinate efforts in the eighth clinical, genomics and other areas. A well qualified person has been identified and the budget has been allocated. It will be a program to provide clinical guidance to physicians, social work, nurses, etc. as well as education for the patients. There are plans to start a central clearing house for the genetics. However, the lead for the program is just coming on board. It is going to take a couple of years for him to really implement those plans. There is the genomics program advisory committee that we have reported here before, was formed in 2006 and has sports team that clinical and the regional experts in genomics and is overlap with this committee and that committee. Based on their recommendation, focus groups and surveys were conducted with veterans to assess their knowledge of genetics/genomics and also their support and expectations for the genomics medicine program. The survey was conducted by the genetics and Public Policy Center at Johns Hopkins. The results will be published. I think they are in Press and due out this spring. They are going to continue-this committee will continue to monitor the program at VA and suggest changes in the program. There are two programs for the ITN for structure that reason the started-funded and are in the--Clinical information for research and clinical planning. One is the genetic information system for and agreed to --To reproduce the data, analyze and produce new findings. The other is called VINCI, at the entrance informatics and computing infrastructure. That will integrate existing databases as well as new data added to extract new information and meaning and provide data at in a secured high-performance and secured environment. VA is supporting a program with the National Coalition for health Professional Education and genetics to develop an interactive educational program on familial sentiment colorectal cancer. The content will include pathophysiology, risk assessment, based on family and medical histories grinning, management, testing, counseling or but is intended for a wide audience of healthcare professionals. It will be web based and be ready to pilot test by the end of the fiscal year untenured that part of the Research over at VA in 2008, there was a genome-wide on [ indiscernible ] models chlorosis to examine the gene environment interactions' the in and the sporadic form of that disease. There are also plan studies in Parkinson's disease, PTSD, these are system-wide studies, mental and as, diabetes, breast cancer, amongst other things. There is also over 140 investigators initiated merit review 7--PTSD, Alzheimer's, cardiovascular, diabetes, substance abuse, stroke, chronic viral infections, auto immune disease, Gulf War illness and cancers of the prostate, breast, colon, bladder and lung. Those are the things going on over at VA. Naomi, from the [ indiscernible ] children's and family.
The Administration for Children and Family is part of the Department of Health and Human Services. It is more or less the HS in the HHS. We have the public welfare program, Head start, child support enforcement, child welfare, child care and a large number of smaller programs. I am new to the committee and have been impressed with the range and number of departments and agencies for which the committee of the work is relevant. It is not yet clear to me the extent to which the work of my own agency is relevant for the committee, but I certainly stand by to be helpful, if I can. Just for your information, the recovery and the Investment Act does provide funding for eight programs, those include Head start, early headstart fact, more than doubles the size of the early headstart program for kids ages 0-3. There is funding for child care subsidies, child support enforcement and a new initiative to build capacity in non-profit agencies. I will leave it there.
Thank you, Naomi. Peter, do you want to talk a little bit about what is happening at the Department of Energy?
Yes. I am Peter. I represent the Department of Energy, specifically, the Office of Sciences, Office for biological and environmental research. We support research at Universities and Department of Energy laboratories at in a variety of areas in molecular biology, and come up primarily, in bio Energy cleanup and [ indiscernible ]. We have the support of a small program in radiochemistry Research and [ indiscernible ] instrumentation that in the past created much of the scientific underpinnings for nuclear medicine. This is changing to a more specific support of environmental remediation projects that we are now focusing on. We also have a small program devoted to low-dose radiation biology Research, which, hopefully, might come up with information regarding the genetic susceptibility to radiation-induced cancer. Which, of course, that would be very nice. Apart from this we have very little else of pertinence that relates to the human medicine and genetics. We have had a program for it the legal and societal issues that has been active since about 1990, two or three years after the human genome Program in DOE. In the pass this has focused on privacy, and intellectual property programs but has not endeavored to support activities too the broad portfolio of potential and shoes and issues. We have new institute supports energy it does-synthetic biology and nano signs, things of great importance to DOE's Mission. Our office does, however, support the Department of Energy's human subjects protection program, which is responsible for all human subjects protection and any research done with DOE funds prejudices' program that does intersect, somewhat, with research that is directed at the genetic testing, in two large cohorts through DOE. One is the long-term monitoring of atomic bomb survivors in Japan, initially under the Atomic bomb category Commission and since the middle 70's under the research affects the research foundation. This looks at the health effects of all but the survivors law as well as the children of survivors. There is genetic research now being done to try to correlate the outcomes, the health outcome plaits of the radiation effects with potential genetic markers. Another large cohort that is within DOE deals with the major and lasting charge for monitoring worker's safety. Since the establishment of the Atomic Energy Commission following World War II, we had the responsibility for nuclear materials, and the related hazards have been associated with a variety of job-related onuses. These are being actively monitored through health programs. A number of universities and outside agencies are mining this information and relating some of the results of these environmental effects to genetic testing in recent times. We do overseas areas. Apart from that, we do not have a specific program ourselves in this area. Of course, as you know, there are various preliminary results regarding potential genetic susceptibility to various things such as [ indiscernible ] lung disease provided that summarizes our current activities.
Thank you, Peter. We have only gone through some of the agencies and it's great to see the depth of everything that is going on. Having cut mark off earlier and and we only have a few moments, if there are some specific questions for today at the speakers, and take advantage of the few moments we have to raise them.
This is directed to Robin and Carrie. This relates to the self-insured employers where they have not only the role of the employer but also short of their work fors thru a self insurance where there are a variety of mechanisms where insurance is administered and where they have the rights to certain aspects of health information, protected health information under that self insurance. I am wondering how you're two grips are interacting around that area.
Well, there is, what we called a firewall between Title I and Title II, which says that any remedy that you can get under Title I for a health-insurance related violation, you cannot make a claim under Title II. One of the things the we have asked for comments about in hour notice of proposed rulemaking is, perhaps, some thoughts about how the firewall might be further explained. There, certainly, was an understanding in Congress that they wanted to avoid double liability, I guess you would say. There are methods being developed to do so. I do not have any-If an employer and makes an employment decision that involves health benefit cuts that would be covered under Title II. Title II prevents discrimination in any employment making decision, which could increase health benefitses. For example, if they desired and then decided not to hire someone because of genetic information they had and they believe that would have to be paid more for health benefits, that would be a violation of Title II. If it would be making decisions as a health short, any decisions that would make in that role would be under Title I. Do you have anything to say?
I think is summed it up very well. It has been on topic of ongoing conversation as Carrie has said and an area with the EEOC proposal, they are looking for comments.
Wimba riding the proposed rule, we engaged in many, many months, in fact, that is why we have not published until now, the direction with the Title I and OMB, we were born to address that problem.
Just a quick question for Sarah. When you talk about we FTC regulating health claims, what definition do you use and do you talk to the other agencies about what that might be?
What an easy question.
I always have easy question.
Yes, we talked to other agencies. I do not know if I will answer your question about health, very well. Definitely, we have memorandums of understanding, with FDA, for instance, on drug advertising whether FDA regulates prescription drug advertising and we will regulate over-the-counter drug advertising. Generally, we would defer to FDA's interpretation of the scientific standards. We are not a it scientific agency. We might retain experts on particular issues. Week, certainly, consult with other agencies on this issue.
One last question.
We also, I can obviously, and by some of these people back. There are some important topics here. Thanks to all of you purgative gratifying to see all of the work going on throughout the organization's. We will hear from several of the others tomorrow and with the two months that we have. We will break for lunch. For those of you that have ordered balked box lunches, those are outside. For those of you that did not, the cafeteria is down the hall. We will reconvene at quarter to 1:00.
[Lunch break until 12:45p ET].
We are going to go ahead and reconvene. If everyone can take their seats, we will go ahead and get started. As we move to this afternoon's session, I just wanted to ask people that are around the table, to please speak loudly. I understand we are not protecting all that well to the back of the room. When you speak, make sure your microphones are on and tried to project as best you can. That one of the critical functions that we have is to serve as a public form form on many of the human health issues raised by the development of genetic Technology. One of the principle ways we get that information is through the comments that we receive through the public. As you all know, we set aside time at each of our meetings to hear from those that would really like to bring issues to our attention. We welcome and appreciate the views they share with us. We have, I believe, one speaker that has asked to come before us today part of that is to recently, the vice President of the payment and healthcare payment policy for the Advanced Medical Technology Association. We welcome your comments. Please, go ahead.
Thank you. Good afternoon. My name is Theresa Lee. I am here on behalf of the advance Medical Technology Association. We--The members constitute nearly 90% of the healthcare technology purchased an elite in the U.S. and more than 50% purchased, and the like, around the world. Our--Innovators and companies and include a significant number of in vitro. Physician of offices, hospitals, clinical laboratories, at the bedside and at home, to provide the information health professionals need to prevent common diagnosis and prevent. Over the years, AMTA has supported the work of this advisory committee, especially your work surrounding patient access to genetic tests, the way the tests are evaluated and the--We have offered our support by providing comments to your staff on draft reports by sharing analysis we have commissioned and by supporting you and your mission. I have several points to make today. Chris, I am here to let you know that AMTA supports reform of the healthcare system in order to achieve expand patient access to quality care at an affordable price. Of Corporate artists rely on clinical diagnostic laboratory tests to inform and that much of the care that they deliver, these tests play a critical role in determining whether we will achieve a more efficient and affordable health Chrysostom, whether we will achieve better quality outcomes and meet patient needs. We ask the members of this advisory committee to work closely with the White House and HHS officials to develop a reform plan and build on the promise that diagnostic tests offer. In particular, we urge you to continue to point out the need for healthcare that is both personalized and preventive. We are convinced the diagnostic tests, which currently account for only 2.3% of the U.S. healthcare expenditures and about 2% of Medicare expenditures can plan and central role in heading off and cutting off disease. Prevention is ruggedly included as a is component of a reform healthcare system. We think upfront spending for promising Prevention and screening Services, Service is not typically covered by insurers to do on their focus on reacted care will pay dividends overtime. This group understands, fully, new advanced diagnostic tests that harness monocular, genome and party on the technologies can predict an individual at the response to their becoming the toot a better assessment of risk of diseases like cancer and diabetes and identify the biological mutations that are the markers of disease. We need to take steps to ensure that the proper incentives exist to encourage their development and needs. This leads me to my second point, the need for a modernization of be clinical the schedule. We are pleased you have identified coverage and reimbursement as a I priority issue for the advisory committee. We believe reform of the current Medicare payment system for clinical diagnostic tests is long overdue. It shortcomings have been documented in numerous blue-ribbon reports and studies including the [ indiscernible ] 2006 report. Is as a benchmark for private payers, the Medicare fee schedules impacts the entire healthcare system. What is most troubling to us is that the promise we seaboard advanced diagnostic tests and advancing personalized and preventive medicine will not be realized unless we put into place proper mechanisms to cover and set rates for new molecular tests per coat Medicare needs to find ways to draw the expertise of the laboratory community, factored in the value of these new ones and said payment rates for continued innovation. Third, we commend you for identifying the evidence Gerry issues associated with the utilities of diagnostic tests as a prior to matter for the advisory committee. Diagnostic test posed difficult challenges for assessors and we believe the current adventuress standards used to evaluate therapeutic products and procedures might not be appropriate for diagnostic labs. We hope your attention to this matter will lead to more appropriate standards. I would like to conclude my remarks by reminding his advisory committee that it has been nine years since the Institute of Medicine completed it assessment of Medicare laboratory patent policy is part of the report the IOM published on this call for fundamental reforms on the fee schedule, most of which have gone unaddressed. The report also warned that problems with the outdated payment system could threaten beneficiary access to healthcare and the use of enhanced testing methodologies in the future. We believe that the current Medicare payment system for tests is a Park Foundation for a new molecular test, including the genetic test. The enhanced methodology referenced in the IOM report are year today in but device innovation and patient access, which are threatened if we do not correct the brain that new tests are value and price. Thank you for your time, today.
Thank you, very much. Just a second. Obviously, we share many of those concerns probably had a long discussion this morning with the doctor and talked a fair bit about how to move toward. I wanted to ask you one question that relates to this, to emphasize the prevention component. That is one area, of course, that CMS can use cost effectiveness analysis as move to an era where clinical utility is going to be the [ indiscernible ] of what is going to be done. We feel the comparative effectiveness legislation that will, hopefully, help inform us and give the information that will be needed. I wonder if you can reflect upon what the industry can do to help get the cost effectiveness information that will be needed to make compelling case to move that along?
We are very strong opponents of trying to show the value, the entire volume of Technology campaign. One of the ways that we do tried to show value is look at cost effectiveness. We do not think that cost effectiveness should be used as a General Manager teeone general decision making. We are under the [ indiscernible ] provision that was referenced this morning that outcomes and expenditures are at a consideration and that it might be appropriate in that context look at cost effectiveness. We are in the process of working with ACLA on commissioning a White paper to look at the value of screening. That is not the issue of trying to make sure we are looking at prevention and integrating the in vitro tests into that paper. In terms of delivering the kind of information you are looking at it, Dr. Teutsch, we will be touching upon cost effectiveness as certain key tests that we will be featuring four specific case examples for cost effectiveness program that will be one of the area's. Will try to deliver that to you.
Any comments? Thank you, very much. Withcard to continuing to work on challenging issue.
Absolutely. Thank you, very much.
Any other public comments that I am not aware? Okay. We will move forward. At our last meeting in December, we discussed one of our new party topics which was t he--Genomic Services. We decided to review the new development and see how the committee can contribute to the current debate and discussion. We have invited several speakers to update us on their activities in this area. Sylvia Au, who led the committee on this priority will lead the discussion today. Sylvia, it is all your.
Thank you, Steve. And know how important direct-to-consumer is when Chin and - -When Jim Evans is quoted on direct-to-consumer testing. This is last month's issue.
What did it do for the magazine sales?
He is quoted as saying--
[ Audio/Speaker not clear].
He is quoted in the article, attempted by at home gene tests. He says, without guidance, testing results are arguably, worthless, which is a typical Jim statement.
[ LAUGHING ].
For those of you that know him.
[ LAUGHING ].
The purpose of this session is to provide an update on government and private sector activities related to direct-to-consumer genomic Services, since the session on Personal genomic sessions that we had in December of 2008. We will look at some short-term actions that the committee might like to consider after the speakers, to help address some of the issues around direct-to-consumer genomic testing. Our first speaker is familiar to all of us. It is Greg Fiero. He comes from the NIH National genome. He is chief of the genomic healthcare branch.
Good afternoon. I am a substitute for Muin Khoury who could not be here today to present this to. Most of you agree that the--Were largely the brainchild of what I will be speaking about. A December was held on December 17th and 18th at the NIH-sponsored, in part by [ indiscernible ] to look at the scientific foundation for the most recent wave of direct to consumers testing using the teewun-wide scan technology. A with bit of context to the meeting. Most folks on this committee might not be familiar with this background. Personal genome-wide and has done it expensive. It is going down on a quarterly basis and are directly available to the public. The research discoveries that are coming from genome-wide Association studies related to complex and common disorders are very rapidly being moved from the research setting, directly to a place where they can be marketed to the public and also to healthcare professionals. Sometimes, it is the same day of publication as the case of recent prostate cancer discoveries. So, obviously, there is vigorous debate about how and when to translate these types of research discoveries from the 1-wide Association studies to healthcare applications and make them available to the public. If this committee has talked about many of these issues to in retail overturned. There is no April [ indiscernible ]. The ticket or meeting that occurred on December 17th and 18th focus largely on the issues of clinical validity clinical utility and education, I would say because some of the other issues recognized as being important more not relate central to the meeting. I think for everyone present at the meeting, the goal was to take the complex scan, in as far realm of dubious use the in clinical care and healthcare purposes and really migrate them back through developing an evidence-based tool and a position on scale where they become an accepted part of preventive services. So, as I mentioned, the meeting was sponsored by the NIH. The dating co-sponsored the major co-sponsor was the National Cancer Institute, the national past-participated as well as the NHGRI. The meeting was not made an un 2-day event. There were 40 speakers and panelists. I am afraid the some of the speakers were quite frustrated because they were given them very short time. Not to get very complicated stuff across. There was ample time for discussion in many of the discussions. That is why they had such a short time to speak. The first perspectives' work included including government perspectives and Industry perspective. There was a blend of both the [ indiscernible ] presentations and mediated discussion panels on the topics. So, it was broken down into several sessions probable over those and the people who cheer them. The first was getting people on a level playing field regarding the basics of genomic profiles and risk assessment of personalized health. That was by Greg Downey. The next dealt with the scientific foundation for which the various could be included in genome profiles and dealt, largely, with the issues surrounding clinical validity of the markers. I think most people at this meeting felt that, at least for the major purveyors of the day when-wide scan, the clinical validity was not question, it was where it started. Then, there was no of large discussion about you go about discussing and then distributing the validity. The following day, there was further discussion around case studies for clinical ability and utility, and then discussion of models that could be used that go beyond the random controlled trial to demonstrate clinical utility. Finally,a discussion of the next steps. So, the next debts from the meeting, the most immediate next steps from the meeting were the development of the manuscript based on the content of the meeting that is currently in preparation. I believe it is slated for one of the major genetic journals. I thought I would go over the five main points that came out of the meeting. The first, and you hear more about this this afternoon is that there was general consensus and already an a movement in this direction prior to the meeting that the industry, itself is offering these types of tests, should work to develop industry-wide scientific standards for personal genomics. That has to occur in partnership with other groups besides the Industry. A lot of the information the industry relies on to make their risk assessment is generated from studies that are well beyond their means to conduct on their own. Develop and implement multi-disciplinary research agenda. It was recognized at the meeting that no one organization or one part of science would be sufficient to move the ball forward in terms of understanding the utility of genome-wide profile and that not all public/private and can buy the partnerships would have to be developed to have people from multiple disciplines and perspectives and to some extent, the [ indiscernible ] proposal brought forth by Muin Khoury for the architecture from public/private partnerships. Enhanced credible knowledge some buses and dissemination of information to provides and consumers. This is to reinforce work that everyone is trying to do and that policy makers and providers and public health officials will have information that is truly accessible for this type of testing. This means that not only from a at literacy it standpoint, is from a cost standpoint. Not only do you need the affirmation, but there needs to be someone familiar with the in pass and out of this kind of testing that could make recommendations, based on the information, at taking the public and the providers out of [ indiscernible ] be absolute experts on the affirmation at the 10,000-foot level trying to make a assessment with regard to the utilities with this type of testing. Finally, there was not make substantial discussion about the definition of clinical utility and what that all means. I think there is not growing understanding that these tests might have value beyond the immediate clinical settings that extend into the individual on perceptions and behaviors that is not directly clinical. There was not made feeling that this is probably almost certainly true, but right now there is are not very good objective measures that could be used to determine the absolute value of this personal utility. Therefore, it is very hard to study and make recommendations about it magnitude of factor value in the healthcare or society that in general. So, I did like to conclude by saying that the slides from the meeting are all available in your handout. You should have this light on this.gov website and should have a lot of information there. It was really an a bridge conference. I would be happy to take questions. I will try to answer them.
So, Greg, would you go into this and a little more? I am frustrated by this notion of personal utility.
[ LAUGHING ].
I think that my comparison, or my analogy with that is that many people in the U.S. would claim that their horoscope has personal utility. The problem with that concept of personal utility is that by it very nature it is a where to get around objective standards. While the horoscopes, people might find them useful for a variety of reasons, I do not think that in the absence of objective dated, it holds any water. I hate to see the discussion about personal genomics to the rail and diverted by this, I think, intentionally obscurant kind of notion.
Obviously, I cannot fully address your questions.
[ LAUGHING ] next.
That was a disguise of a question.
So, I would state that there are competent folks out there that, even in the academic realm that make argument that, perhaps, that, it if, it in fact, even if slightly runny is information results team and individual improved behavior and look on their health, that that is an intrinsic value. I think that is an interesting and very perilous, potentially, perilous argument. I think that the idea that you need to come up with some magics to measure this, will sort of clean things out in the wash, if you well.
I think Mark is next.
Why? Why is Mark always next?
[ LAUGHING ].
Because Sylvia like the best.
So, I am a little bit concerned about the other end of the spectrum, which is the idea is the analytic ability is short. This might represent ignorance of the actual testing on my part to. In the information that was in our patient regarding the accuracy of the test, they are saying that delivering the test at 99.9% accuracy, which on the surface seems good, but you and then if you are doing a 1 million set that is 1,000 wrong results. Especially, some of these results as-maybe the incremental Harmon there is less, some of the things Incorporated where they too specific mutation in genes and if you make a wrong call, there is a very different impact. I am not made little concerned that we say, these things are valid. We do not need to worry about it.
I think the people attending the meeting would agree with you. The focus was on the clinical validity issue, because it is in most people's mines on the multiple gene scans, it is higher than the most potential problems. I do not know if there were other people here that attended the meeting who would comment on that, here on the committee.
Kevin, can I interject?
Always.
[ LAUGHING ].
I understand what you are trying to say with the major need to look at the clinical validity. We cannot forget the analytical validity. We have the potential to start developing the clinical validity. We cannot disregard the analytical validity.
Correct. The point, though, is that, let's save 99.9% of the time you are giving the correct genotype. The major problem does not lie with the analytic validity. It lies with the clinical validity. That was the major focus of the scientific discussion. It was not the nuts and bolts of the chip.
We will take seven men moved on. There will be time for other questions after everyone has spoken.
Are you sure there is no one else in front of me?
[ LAUGHING ].
I want to get any better sense of the personal utility. I understand this was not your idea, Greg. Since you were there, I guess my concern is, as they look ahead and trying to figure out, exactly, how to take this landscape of personalized medicine and understand it in realistic, even economic ways, it might be true that with the technology plans and techniques that we have now, there are certain people that could make Jim look like this, if he so desires.
[ LAUGHING ].
I want to know, is that going to be considered health? This is the issue. If we are going to get personal utility merging with clinical utility in anyway, we will be taking that landscape and making it extremely--
Obviously, that is a boundary issue that I think goes well beyond genome-wide scan [ indiscernible ] the playing field-[ Audio/Speaker not clear].
I think Paul wants to interject.
While I might have a lot of issues about personal utility, I would point out that this is not a issue that is new to genetics. For instance, there was a long argument in genetics around the notion that any test that did not have a specific treatment was not worth providing because there was no action to be taken apart at the park of the determination of what that action was was generally made by the provider while be patients, for instance, might have chosen to change their well as a personal response to the information that might be contained in a genetic test.
That was articulated well at the meeting around Alzheimer's.
Exactly. Personal utility is an evolving concept. While I can understand some of our friends objections to some of it, I do not think is to be trashed, altogether.
[CAPTIONERS TRANSITIONING].
-- thank yo . Just briefly talk about this study. This report will be reporting on three year's worth of data. The goal is, objective slide, slide 3, for us to have this comprehensive, actionable assessment of where attitudes are, monitor over time, preference for using genetic information to understand where there views are similar, divergent, both pharmacogenomicses, and personalized medicine. We look at that through a variety of types of consumer models.
The objectives on slide 4, a lot of data in this study, I realize I have about 10 minutes, and I am going to focus on critical issues specifically as it relates to DCT testing, but a few overview slides as well. There's more in the research, if there are specific questions the committee has, I would be more than happy to share low awareness of--I have that data and can share it with the committee very easily, if you are interested. We then get into more of the stuff that we do on the four prophesied around what do consumers want? Who will they share the information went? How do you best communicate with them? I did mention we look at some policy-related Information. The methodology of the study on side five, this is a rep sampling of the U.S. population purgative a Web-based survey. We are very careful about setting up quotas on U.S. census data making sure we get the right representation, age, region and gender. We look at those numbers Perry carefully on the back and, as well and if necessary, do any waiting, which is usually minimal, to ensure that we can project this to the U.S. population. We talk to 1,000 consumers. The sampling error is about plus or minus three. As I mentioned we will be comparing this and looking at turning data to other years. We are looking at a sampling error map of plus or minus four. So, slide seven, one of the persons we do not in the survey is look at overall awareness it has been hovering around 75%, although we will see, statistically insignificant but, it is not much to not terms of total numbers. Started out with about 75% of the U.S. population saying that they were aware of using genetic information to understand and optimize health. We do not ask them if they have heard of genomics. That number is at about 79%, which is a slight left over what we have seen in previous years. We, then, wanted to know-they have heard of this general idea, we wanted to tell in more deeply about direct-to-consumer testing and the availability of Web-based tests and, at in that had talked to a couple of people at HHS who had given me some feedback on these questions when we were developing them. We read them a Brith-or they read themselves a brief description of what we meant by personalized genetic profiles that I will read to you. Over the past year or so, at a number of Web-based companies have started to offer personalized genetic profiles directly to individuals. These profiles are based on a and DNA sample collected using and in-Kit and gives you your risk for approximately 30 diseases, such as arthritis, diabetes and other cancers. Have you seen or heard anything about these personal genome Services? About 12% of the population we surveyed said they had, it in that heard of some of these which was higher than I had expected. It still is only about one in 10. With all that up with a question to say, what, exactly, do think it means when they provide information about your rest? This was not made multiple response. As you know, it is not always the same. Is to entrench interestingly, consumers chose only one response for but there is not lot of confusion, very little agreement on, exactly, what is that they are getting for their money, if they did choose to have such a test, about a third said it would identify my chances of getting a specific disease. It would give them figure, like 67% chance. The next greatest proportion said it would tell me if I was at greater risk but would not tell me any information about to what extent or exactly what my level of risk was. From one to 5 it would say that mine genes looks similar to those associated with the disease but not any increased risk level or not. Only about 7% said it would determine if I definitely will or will not get a specific disease. Only a to consumers are saying that it really cannot tell me with any definitive answer to whether I will get this disease or not. 4% said it will tell me only as I already have a specific disease. Enter singly, only 8% or not willing to wage a does year in terms of what they thought it meant. The key here is that consumers are willing to make an assessment of what they think they are getting and what they think they are getting is very variable.
[CAPTIONERS TRANSITIONING].
Understanding and optimizing health. There are specific segments of the population disproportionately -- those with household incomes over 100,000 and three or more prescriptions. We look at slide 10, what they actually want from the tests, looking to test for individual condition or really want to know everything, all issues at once. You can see that there's a huge preference for that, consumers three times more likely to say they want to test once, and get as much information, in fact all of the information possible about what their genetic profile says about their health status.
One of the other interesting pieces of information on this slide is the fact you really only have about 20% of the population, now 13% of the population saying that they would never have a genetic test, they are not opened to having a genetic test.
On slide 11, we actually asked consumers about specific diseases, said what would you most be interested in knowing about. When you roll up all the information, look across answers Americans provide, 91% of them would want to test for at least one condition so that 13%, saying they would never have a test is probably more like 9%, not too far off, but you get more interest when consumers start to think about specific things they might be able to test for. A large number of Americans are very interested and can think of something they would want to test for. You can see the things they are most interested in, cancer certainly is definitely showing up in the top 10 quite a bit. Alzheimer's, heart, not surprisingly, is right up there in the top.
On slide 12, a thing we noticed in the research this year, there seems to be a little -- consumers are feeling empowered, and across a lost of the questions we saw more willingness to act on their own, not share the information necessarily with their doctor unless there was a problem, we will talk about in a minute. We have a question where we ask people would they actually involve their decision of whether to have the test or not. We have seen a drop in that number. On this slide there's an additional drop in the number saying that they would share the information or want the results of that information to be shared with their doctor. I think that obviously has a lot of implications, the fact that consumers are interested, think of areas they would like the test, don't necessarily know what the information means when they get it, not necessarily only 1 in 2 are saying they would involve their doctor and the discussion of that information. So this increasement empowerment on the part of consumers is something that's really important to keep in mind.
On slide 13, if there is an issue, so if they were to get the result and it were to indicate they were at risk of a disease, now there's a slightly different story that emerges, the majority of the penal people say yes, I would bring the information to my doctor. Half say they would want to see the physician more often, have screening done. About half, less than half, willing to make lifestyle changes, diet or exercise. That feeds into what we do know, increasing belief on the part of Americans that diet and exercise are factors that can heavily influence their health status. Only a third said they would tell their family. We know consumers are very worried about the emotional burden of having a test. Not willing to share that burden with their families.
One in four say they would take prescription medication on a preventive basis, more than one in 10, 13%, say they would consider preventive surgery, only -- percent saying they would not do anything as a result of that information.
Those are some of the highlights that I thought would be of the most interest to the committee, there's a lot of study, happy to talk with you individually, or the group if there's other additional information you think would be beneficial.
Any comments or questions for Christy right now?
Dr. Dale?
First a comment, then a question. Looks like the panel you showed about the difference in sharing information between '06 and '08 shows a general trend downward. I don't share with anybody, I interpret that as distrust. The other comment I would like you to respond to, did you ask if people would want their samples saved for future discoveries or in some way get at the concept of a bank or storage?
We do actually cover that information, I would have to look it up to upon sure. I know we will get back to questions, I will make sure I have that data. That was also declined. Very few people want the information to be saved. But I will get those actual numbers for the discussion.
I am talking about saving the DNA.
Yes, that question is covered.
Okay, I think we will move on, in the interest of time. The next speaker is Larry Thompson, telling us about the NIH website for direct to consumer information, for genomic services. From the national human genome --
You may be wondering why a communications guy is up here talking about this,ly mostly because I have to do with websites. Why is NIH trying to create a resource? We just did our own study as preparation, let me tell you what it is we are thinking.
You know these direct to consumer tests started about two years ago. Out of that came concerns by NIH leadership, they are out of the medical community, not always clear what they mean, being marketed as entertainment, the new pet rock or something. People were worried about would become viewed as genetic snake oil by the public and when it really did work people would be skeptical.
One writer has a book coming out, tested, one company told him his heart disease risk was low, one said medium, another said high, gives you an idea of how reliable this is. A physician in Philadelphia was told the risk was low, don't worry, but he'd already had a major heart attack before the test was done. It raised a lot of serious questions.
Dr. [indiscernible] when he was the director, charged with coming up a plan to communicate to the author are author tattive stuff to communicate to the public, the co-chairs, Al lain stepped down when he took over as director of the human genome -- and I stepped in, we worked to make sites, do things, looking around, creating much of the same information out there, wondering what we were doing, ran out of momentum, started to slow down. Our friends at the cancer institute offered to do market research for us. Instead of -- I am a former journalist, going out, telling stories marks it make it up, they said they would get some studies. The report was just presented to the [indiscernible] committee last week, very good timing. I can tell you a little about what we found. It sounds very much consistent with what we just heard from -- ours was done as focus groups. I will tell you about the -- we did 10 focus groups in New York, Washington -- did in-depth interviews with physicians, 61% women, 39% men. Not surprising, women focus on health more than guys. 70% white, 18% African-American, only 6% Hispanic, have to keep that in mind. All had high school dip diplomas, and many had college degrees. We tried to stratify into groups, people not thinking about genetic testing at all, people thinking about it and people who did it.
One thing that, the last group we called do-ers, we asked the recruiters to specifically find people who had taken direct to consumer tests and they couldn't find any. This is just a sample, very small, not too surprising, we couldn't get anyone who had done it, but they looked for them specifically, and we all went hmm, I don't know what to make of it. Very small sample, but interesting.
The results one from the consumers, focus groups, trying to get what's going on. They knew very little about the detail when pressed for details got stuff wrong all over the place. Many did not want to know their risk of getting certain diseases if there was no treatment or cure. Couldn't do anything medically, didn't want to know. Some did, especially if they had a family history of a disease running in the family, wanted to know if they were at risk themselves. Most consumers were concerned about privacy, confidentiality, not surprised to hear from cogent most people don't know about Gina. Insurance companies and employers. Most thought a trained professional should be involved in interpreting the test, realized their own ability to understand this stuff wasn't good enough. And [indiscernible] wanted to know risk. That's not too surprising. In general, the consumers wanted us, we, the government, to provide a lot of reliable unbiased information. That's good news for the effort we are looking at.
Some little context, the practice set small private practice, one hospital, I was disappointed with the results, one practiced 10 years -- 20 years, and one -- genetics changed a lot and they didn't have a lot in medical school. A fundamental concern that when all this information pouring into the system, they will be deluged and not know what to do with it, frankly.
The genetic testing doesn't come up much in their practice, just doesn't come up. Few have had patients ask for help in interpreting, just not seeing it in their practice. Patients don't understand probability and had no idea to interpret the results of the test. The doctors felt patient initiation about genetic testing needed to be practical, not technical at all. I have to drop the slide about ang storms.
Many said they did not know about the genetic tests out there, didn't have classes in medical school, wanted us, the government, to provide a list of approved tests. Not likely to do that, raises the question of vetting and endorsing issues, maybe more appropriate roles for FDA or CMS, I don't see us doing that at this time. The docs were generally skeptical, and did feel, mostly, that NIH should play an important role in providing information. Others felt we should just stay the heck out of it. Between the docs and the patient, and we'll see how that goes.
Recommendations from the study, some ideas we are studying to see how this could go. Recommendation was that the information had to be basic, practical, all about genetic testing, very straightforward. Needed to develop for different audiences, certainly the public, need to be generating information for professional audiences, because they need a place they can go for good stuff too. We need to explain direct to consumer testing clearly, testing on the website, need to do basic good standards for [indiscernible]
The assumptions we are going with, I am going with, I should say, since I am charged with building this thing, my assumption is consumers don't care. Really disinterested until they are interested. We are bombarded with messages, we filter them out, ignore, until we are convince to be information seeking. We need to create authoritative resource, unbiased, that people can go to when they are converted to the information-seeking mode. Make it available when they want it. Something comes up, my kid got sick, parent, my sister, I want to know if this will run in the family, yeah, the government guides, something I can go find this. The good thing about the way search engines are working, we bubble to the top pretty quick, people shouldn't have much trouble finding information we put on the web. People seeking this information are very web-savvy, things are being marketed on the web, it's a more affluent group. We are not worried, but we may get to it, reaching further out into the world, people not using the web, use those audiences as well.
The other thing we are trying to do, thinking about doing, in this 2.0 world, overused, much-hyped, the social marketing. Needs to be engaging. The government, from my point of view, there's lots of web logs, create content, put it on the web, that's what a web blogger does. What we don't do well is listen, to users, take the time to sort it out, have a conversation with our adz audience. We want to do that with this site. We might want to take it a step further. I am going to try to push, do a video blog on it, basically, instead of writing something we bring somebody intro into the room, sit down, do an interview, webcast, quickly available, easy to do those. We can do that fairly quickly. My Institute is now trying to create a small interview studio to test this idea, push it along. It's easier in some ways for the audience to take the information, all they have to do is watch TV, on the web. Television, I have done work in broadcast, as a journalist, television is sort of automatically less dense. You just can't get as much information in television as you can print. We will have to supplement with some text, but generally it's a stream of conscious way of getting information across, a Q&A kind of format. There are challenges. We have to be 508 compliant, closed captioning costs money, we have to move quickly, the other challenge is working across NIH, someone who can speak in a way my mother can understand it, so the information is accessible.
There are other challenges, there's no budget for this. NIH, like so many efforts, dependent on the kindness of colleagues. Right now people have been volunteering like crazy, been really great. No dedicated staff, all people working on this are volunteers, we're all hyperbusy, but there's a strong sense this is important, should be done, it's a rapidly changing field, we need a group to monitor, keep up as we go along, and I am almost certain I will make mistakes as we go along, but it will be an interesting process, and a conversation with the audience, I am not worried about mistakes, we will talk about it, sort it out with the people who are interested in all this.
I am optimistic this will be helpful. In closing, interesting note, we were using a short hand to refer to this, calling it gene scan, calling the site gene scan.NIH.gov, sounds like scam, the general sense was this was something that was going to be cursory, not in-depth. Still working on a name, if you have good ideas, and I am happy to take questions.
I like the idea of the videos. One thing you might consider, given all the constraints you mentioned, the Dartmouth, published on shared medical decision-making using videos where you have patients relating stories to patients about a choice. One is on benign prosthetic hypertrophy, to have people tell stories why they chose to be tested, told doctor, didn't, as you know, being a journalist, we relate to stories better than anything else. This might be a cool opportunity to test how that would work in this setting.
We have been thinking about how you have a dialogue on a site, you can't let anybody post anything they want to. I do like the idea, a bit of a geek, I go on websites where there are technical discussions and tell each other stuff all the time. I want to enable that.
We will have questions at the end. Our next speaker is from the Institute of Medicine where she's a senior program officer, and going to be telling us about the plans for the National Academy's direct to consumer workshop.
You all know how important direct to consumer genetic testing is, consuming a lot of our time and effort these days. Several segments of the National Academies felt like, unusual, like when we are trying to get our own projects done, we thought it was important to take an Academy wide look at consumer testing. We got together the committee on science technology and law, and the Institute of Medicine round table, the drug forum, national cancer policy forum, went to the president of the Academies and Institutes of medicine asked for a workshop looking at the kinds of issues that are of concern to various segments of the academies in this whole area.
So, we have a workshop planning committee that is composed of representatives from each of the segments of the academies participating in the genomics round table. Cathy Hudson and -- Cory, the rest of our members. I know you all know them.
The goal of the project is to bring together numerous stakeholders, scientific, medical, legal, policy communicates, and the public, to look at issues, opportunities, challenges in this whole area. We have four areas of emphasis. We are going to briefly try to get a handle on the [indiscernible] knowledge and future research trajectory in this area. I will share genes in [indiscernible] regulatory framework in the DTC genetic testing, and then education or communication and understanding, I guess, of the public and medical community.
We are asking certain questions in the knowledge and research trajectory area, current status, of course. What do we know about the clinical, analytical validity clinical U utility, what can we learn? What will not be learned from these tests? What is -- what can we anticipate the future will look like in terms of the genetic tests that will be available in the next five to 10 year and what is the market going to look like? The kind of questions we are exploring in the first session. Second session will look at genes and the emerging -- privacy, the planning group was particularly interested in can we balance this consumer, now we know a small percentage of the consumer, the consumer desire to know, the need to guide, driving the market. The benefits for family members, using the tests for public figures if they choose, who owns the data? The issue of discrimination, Gina, emerging online social networking based on the direct to consumer testing, and we want to explore that a bit.
Regulatory framework issues, there are many. I will let you read the slide, rather than reading it to you, and perhaps that will help speed this along. I am sure you have a copy. Then, a big area is what do we know about what the public knows, the provider community knows, what kind of providers are we talking about, primary care is very different than pedia traigzs, different than OBGYN, certain kinds of genetic tests. How do we ensure those who take be these DTC tests get proper interpretation, there mechanisms to help that? What's the minimal knowledge required and what kinds of lessons have we learned from other diagnostic tests and procedures? We have not scheduled a date, have had two planning committee conference calls, hope to have another in the future, finalize agenda, hope to have the workshop late summer, early fall, you can contact [indiscernible] or myself for information.
Any questions or comments for lill a?
Amy Miller, public policy director for the personalized medicine coalition, she will talk to us about standards for analytical validity and clinical validity of genomic scans.
Amy Miller: Thank you for inviting me to speak today. I would like to run through some personalized medicine, coalition efforts in this space. Who are we? We are interested in personalized medicine as a large concept in the future of healthcare. We represent all the different stakeholder groups in personalized medicine. That includes pharmaceutical companies, diagnostic companies, lab service companies, the academics who do the initial research in the medical centers, who put it into practice Here's a hand I diagram about how we see ourselves. Healthcare provider and patient groups are members of our organization. You heard a little about the HHS efforts, and the NIH and the CDC's effort in consumer genomics. Through those conversations there was some concerns that maybe the results weren't similar when people got the three different scans. The companies, before this became a very public concern, hadn't really talked with each other. So during the HHS and SACGHS's efforts over the summer of 2008, three scan companies, Navigenics, 23 and me and -- said you know, it would be a good idea if we got together, talked about products, how to get them a little more aligned. DNA Direct is a long-standing direct to consumer genetic testing organization, that you test usually through your physician, who orders the testing, and a genetic counsel counselor -- these three companies that do gene scans came together, said let's try to get our test aligned so that when a journalist gets them all done they do get the same results. Through that effort they came to adjust their algorithms in ways so the results are more similar. They recognized transparency would be good for the community. This is the link to the CDC website, this link, in your book, four-page overview of the work group's effort.
They also recognized how important transparency is, and in the fourth page you will see links to the transparency pages of the three companies, going through how they calculate risk.
They also pointed out areas where it would be helpful to have the government say what would be useful. Where's the consensus on how to calculate risk or when to include a SNP in results consultation. PMC is partly an education organization, educating whom ever about genomic information. We thought it would be very useful if some organization came together, came up with some educational materials. To do that we hired, frankly, Scott Boyle, who used to work at HHS and -- we also wanted patients, providers, to have input into this consumer guide. We drafted a document, sent to public policy group, some of you in this room took part in editing the guide there. We sent to our science committee, some of you also there, shipped around to some federal friends, received feedback there. Then we sent it to the community and asked for feedback, hosted a round table where we asked patients and providers to read the document, listen to companies present their products, and to give open and honest feedback about what kind of information they want, how they want it to be presented, some [indiscernible] in the product and some benefits in the product.
PMC went into this event really blindfolded. We didn't have expectations for outcomes. What was most surprising to me, we presented the guide, in your books in its entirety, available on the website. What surprised me most, the consumer groups represented in the room said we would like this guide to be re-done for our needs, so I said, take it. If you want to take the content of this, expand on certain aspects, contract certain other aspects, remodel for your own use, please do. I was listening with rapt attention to the NIH folks before I spoke, there's a need for that. An educational government-wide effort, focused on different kinds of groups. We heard it loud and clear from our consumer effort.
In terms of going forward, PMC plans on taking that very large consumer guide, it just grew and grew, we hope to do a small brochure, educational piece, history of doing that before, hope to get one out soon. There's still a thirst for knowledge in this space.
Do we have questions or comments for Amy?
Thank you, Amy.
Next speaker is well-known to the committee, because we keep inviting her back over and over again to give us great feedback. Ann M. feed an Ann Ann M.
Ann Wille y: This system operates for all laboratory testing in New York, it's not unique to genetics, but all genetic testing is subject to this system. The statute in New York state preexists all federal statutes, having been passed in 1964, requires all laboratories testing any specimen from the human body collected within the jurisdiction of New York to have a permit from the New York State Department of Health. The criteria for issuance of permit requires the director be qualified, pay a fee, the facility be inspected, every assay they offer is either generally accepted, meaning FDA cleared, and/or approved by the New York State Department of health. They have to comply with any other state statutes.
Directors have to have a doctor's degree, four-year post-doctorate experience, two of the four must be in a specialty, in this case genetics, and the experience must be within the last six years. The lab submits an application to review ownership, financial interests. The physical facility, lay out, equipment, who is working on the lab, what tests they intend to offer, initial fee is $1100, then it's a percentage of revenue, they may pay over a million dollars a year for large labs.
There's an inspection on site for each facility, Hong Kong, U.K., Iceland. Every assay they offer must be reviewed for its validity. That includes the specific assay description, suitable guide that will be used by the person ordering the test, explanation of consent process, New York state is a state that believes in exceptionalism, specific statute in the civil rights law that specifically requires written informed consent the for all genetic tests, DNA, RNA, [indiscernible] gene product or product of gene product for inherited traits. It includes, specifically, DNA profiling. We review an lit validity, I will agree with comments earlier, this is probably the easiest element for the labs to document, that doesn't mean we don't review it, look at claims, values, cut-offs, error rates, reproducibility. It is their ability to detect and/or measure whatever that target is, the DNA sequence, the enzyme activity, whatever they are claiming.
We also review clinical validity, this is generally documented by literature references, dock documented -- some outcome, component of the biological specimen. New York state includes under the laboratory licensure program things beyond the CLIA definition of a medical lab. Genetic profiling, paternity, forensic identity, hobby genetics, if you will, subject to oversight, because it's a specimen, measure of component in the specimen. We review reporting format. In genetics we require it be in a format suitable for [indiscernible]
Some of the other statutes that become of issue, particularly when talking about the kind of direct to consumer marketing of genomic profiles, New York state is not a direct access state. Individuals cannot order their own lab tests, with some very specific exceptions. Therefore, every test must be, if performed by a [indiscernible] lab, is only performed at the request of a person authorized by law to make use of the test results. In the case of genetic tests, the clinnation, generally a physician, genetic counselors are not licensed healthcare practitioners and cannot order tests in New York state. Could be an attorney for paternity. Only the person who orders the test, communicating the results, exact copy reported to the authorized person, to the patient, or person tested, only with the written authorization of the person.
We have lots of business practice rules for laboratories, direct billing laws, laboratories must bill the person tested, or their insurance, with authorization. This is to avoid middle men who mark up charges, add on services that may or may not be appropriately attached to the lab. Between permitted lab, a spes man goes to one lab, refer relab, the first lab can bill for it, pay the second lab. Facilitators, intermediate facilitators cannot receive funds on behalf of the -- if they are arranging tests, mentioned DNA Direct does, the lab that does the test has to bill the person tested. DNA Direct can bill for the medical services, not the pass-through for the money.
There are some very rigid antikick-back statutes in New York state. There can be no fiscal or other incentives provided by a licensed laboratory to the ordering physician. You can't pay a fee, employ them, put them under a contract, but more specifically, the laboratory cannot provide services to the person tested that would otherwise be provided by the practitioner. Laboratories cannot provide genetic counseling. They can provide genetic counseling education to the physician who orders the test, and they can provide a copy of test results if the physician orders them to do so, but they cannot practice medicine, genetic counseling, considered the practice of medicine.
Under state education law, the license of a fxz prohibits that physician from being an employee of a corporation. Corporations cannot practice medicine. Laboratories can't practice medicine, laboratories can't employ physician z who practice medicine, and emission groups have to be careful how they incorporate under New York state law.
I am asked how this works for the entities that are offering -- I tried to be creative, learned a great deal. I can now draw arrows in PowerPoint. I left one off.
No education, information, flows relatively freely. The one place we need to be careful is between the laboratory and the tested person. Tested person can provide information to laboratory, but the laboratory can only communicate with the tested person, anything other than generic web pages or information, educational materials, at the authorization of a physician. There is an arrow missing, between the laboratory and authorized person. We want the labs to educate the practitioners about the tests available. Within the components of laboratory, specimen, analysis, data, we expect appropriate exchanges of information Facilitates, marketing firm cses can -- can gets complicated enough. We want free education, free information, with one caution between the lab and the person.
I indicated three components. We believe it's consistent to say that these entities that will obtain raw data from the analytical testing facility, and generate a report that would go to the ordering practitioner are a laboratory. By making them a laboratory it creates the provider to provider exception regarding financial arrangements, creates an appropriate provider to provider for exchange of patient information and facilitates the kind of information, corporations, like the big four, wish to engage in. By making them a laboratory it subjects them to a license, paying a fee, submission of data we require. We believe it's also consistent with the CLIA requirement, saying the entity, pathologist who receives the slides, issues an interpretive diagnosis on a Pap smear must be licensed with the lab. We consider these data management facilities no different than [indiscernible] we are making data management companies laboratories
Information flows freely. Must be, statute specifies eight elements. [indiscernible] can only be described by the lab, the test you will do, value of the test, what you will do with the specimen. The lab has to provide to the physician half of the information for the consent, but the physician is the only one who knows why they are doing the test and has the signature of the patient. The actual execution of the consent, turquoise line, occurs between the ordering physician and the patient.
The laboratory can get a copy of that consent, they are not required to have a copy, the physician orders the test must retain the written informed consent.
All right, money. Tested person must pay the lab. Tested person presumably pays the authorizing physician for the medical consult. The authorizing physician could bay the facilitator in exchange for information, the missing piece. The laboratory could contract with that, marketing entity for the distribution of educational materials. As between the components of the lab, they can exchange money. One entity gets all the money, they pay all the parts. The laboratory can give of no money or incentive to the authorizing physician.
The report. The ordering physician interprets and provides the results to the tested person. If the physician authorizes the laboratory to give a copy of that report to the patient, that can happen.
So, adding in the two arrows I left out, trying to explain the business practice criteria used to review these, looking at those various components, agreeing to approve one of these entities. When I was here last June, I think the last time I was here. New York state had sent -- we monitor the Internet for makers of genetic tests. We have now sent to approximately 40 entities since 2004, letters that say not in New York unless you have a permit. I was asked to report on the responses to those letters. I have copies of the letters and responses. Approximately 40, they move, change morph. We had no response from eight, they tend to be small entities, come and go on the Internet, but eight did not respond. 12 responded, we understand, we know you have rules, we won't do it in New York, put disclaimers on the website.
We have five that said we know you have rules, we think we are applying for a permit, but won't take specimens from the state of New York until we get one. Five we still need to follow-up, need a permit and into the system. We have three we determine do not follow [indiscernible] jurisdiction, they specifically do not allow -- you have to travel to that facility in order to have the specimen collected, so that's not in New York, they are not in our jurisdiction, or they are not a laboratory, they are the practice of medicine, not performing any tests. That's three.
We have the biggies, all right. Three have applied, one we've determined is not a lab, and the remaining one is still in negotiation regarding the physician order and whether there are options under the New York state statute. Happy to take questions.
While we are asking Ann questions, if I can have the other speaker move to the front, we can do the panel.
I will ask the obvious question, you left us with the three biggies, determined one was not a lab.
DNA Direct, it's medical genetics, they facilitate -- they do not do any testing, and they have accommodated the New York state direct billing law, the Department of Education has cautioned them regarding the corporate structure under which the New York licensed physicians provide medical services, not a laboratory issue.
Where do things stand with the large labs like 23andme in getting -- at least one of them says -- physician to order the test, seems to be in conflict with your rule.
It is.
So they would not be eligible to do this on specimens collected in New York.
Not if there is any financial arrangement with that, physician.
My question was, especially in New York City, being such a cross-roads, if someone is not a resident of New York City --
The specimens were destroyed.
[indiscernible] New York, I go to such a party, the test is sent outside of New York, I don't reside in New York, the test didn't happen in New York, I happened to be in New York for the collection, is that legal or illegal to you?
If the specimen is collected in the geographic boundaries of New York state, the laboratory that performs the test is subject to the jurisdiction of the state of New York. It's not that far to Connecticut.
[Laughing] have your party somewhere else.
We won't tell the governor, Ann. Thank you.
Other questions for Ann right now?
To answer your question, no, no labs are approved in New York state to offer genome scans. In the last two weeks we approved three laboratories to do array based genome scans for specific genetic conditions, confirmed by cyto genetic [indiscernible]
We have all the speakers come up to the front, and do -- can committee members, anybody have questions or comments for any of the speakers today.
Jim, a question?
Jim: This should be for all of you, because as I was listening, one thing I was struck by, a fair amount of discussion about analytical validity, and clinical validity. What I think of as a practitioner, and I think as a patient what is most important is what those two concepts are subservient two, ultimately, clinical utility. I am wondering what your thoughts are about clinical utility, I didn't hear much about that.
[indiscernible]
Right, actual you're the only one who was clear on that --
If a laboratory includes in report something which verges on claims, patient-specific recommendations. It's one thing to have educational material on the website that says if you have this test, we find these markers, people with those markers may have [indiscernible] risk. That's educational material. After the test has been done, you are saying to the patient, "you have these markers, these markers are found in individuals with increased risk of," the laboratory cannot then upon say therefore you should take this drug, take this test. Laboratories can't do that. What are you going to do with the information? Left to the practitioner who ordered the test.
am interested in in where that comment falls.
First comment I made in the meeting, utility is definitely part of the discussion, very difficult thing to define, it's hard to measure, takes a lot of time and effort. [indiscernible] adequate clinical validity before you can get to directing in big studies the clinical study issue. The SNPs, you can't [indiscernible] anybody who heard me speak, obviously utility is near and dear to my heart, you cannot neglect that --
Greg and I have been in too many of the same rooms. I was about to answer similarly. Because clinical utility is so hard to define, one unintended consequence of these companies coming forward is that consumers know a lot more now about what genes mean to their health. They are starting to learn a bit more about probability. That's an unintended but perhaps positive consequence. It's adding to --
I am actually skeptical there is an increased understanding of any real appreciation for probability, utility --
I don't have anything to back me up.
I don't think there's data to suggest that.
I would say that a definite benefit has been an increase in the dialogue and the sense of urgency to address the issue. These companies have done a service in that avenue new, the technologies are becoming more and more viable for health app qaigz applications.
Christy, are you still on the phone, the information from Dr. Dale?
Discussion with the lab, the ability to retain information, just under half of Americans, 46% say they would like -- the way worded, "what should happen to your DNA sample after the test is complete?" 46% said they would like -- retain DNA sample for future tests of my choosing. When we asked who should, where the DNA should be kept, the vast majority said they want it to be kept by the company that conducted the test. Very few said a private medical storage company, less than one in 10 said the government agency should have that information.
No offense to anyone in the room.
[Laughing]
Andrea?
Did you also ask, not only retain the specimen, but we can use it for other testing, further purposes, their feeling?
We had another attitudinal question, didn't ask where they want it, but were they concerned, two-thirds said they were very concerned that their tests might be used without their permission. We didn't ask that exact question, I would say absolutely, they do not want that information to be used. Except by their own choosing and specific tests they would indicate.
Is that a follow-up to this?
Gren I have a question, you asked one way, but one of colleagues did a survey, OBGYN bioethicist, how would you feel about having -- if it was used for medicine, they overwhelmingly said they would be happy to have their embryos used for research, if they weren't using their discarded embryos, it would lead you to believe people would answer, in my mind some suspicion in the way the question was posed.
Obviously, if you are giving people annal truistic reason to use the DNA you might see a different response. In this case it was more the like scenario, my own DNA to tell me about a specific test I want, housing my DNA there for my own purposes in the future, if it's more mom, apple pie, served up in annal truistic manner, particularly relating to children, you will see an inupon flatted response.
I don't think it's inflated, it's just the flipped. You would see --
I don't mean E erroneously, truly. In '06 we asked a couple questions about consumers willing to be part of a larger database the government would have for very similar purposes, we did see there was definitely interest for consumers, but not as widespread as you would like to see.
Was this done before or after the passage Gina?
After, interesting because if there had been media coverage about it, it was probably happening right around or right before a flurry of communication, if you could call it that, about passage. We were probably in the field where we expected to see the highest levels of awareness, and we saw no lift in awareness of protections from '06 to '08.
Paul?
I would like to ask a couple of points of clarification about the New York state situation, which is complicated from my untutored mind.
For instance, several of the national labs, who I believe practice in New York state, employ genetic counselors. From what I think you said about the relationship between labs and counselors, does that mean for samples collected in New York state, labs have not been using --
Those counselors either provide education to the ordering physician, provide guidance to the ordering physician in interpreting reis sults --
Not directly --
With the written authorization of the ordering physician they can provide the service which would repeat the result. They are not supposed -- repeat results, explain what it means, by our criteria, probably not genetic counseling in its fullest sense. What they tell us, those genetic counselors talking to patients in New York, yeah, but they are not supposed to be providing genetic counseling.
Second, I understand your diagram, the result of a lab test would not be provided to the patient directly.
No, with the written authorization of the physician it can.
This whole idea of doctors who order a test, go out of town, on vacation, the person is waiting for their cancer test result, they have to wait until the doctor comes back.
I believe that would be considered negligent medical practice --
This leads to the question. It's a remarkably intricate and important regulatory network you set up there. From New York's point of view, what is working well, what needs reformed?
From New York's of point of view, to the extent that laboratories apply for permits, have assays reviewed, get mer mission to offer the assay, validity, we look be to national organization, what criteria should be used, approved labs, approved tests, that works well. We also do have a mechanism by which a physician can make a request to use a lab that's not permitted for a particular patient for a particular clinical need, and we have never said no, so long as it's unique to ma patient, justifiable, and a medical need. You can use labs without a permit, or approved for a particular test if the clinician feels that's necessary.
What doesn't work from our perspective is that I can go to Connecticut, get the test. Unfortunately, true, argues that we're providing overkill, charging -- program cost is $20 million to run. We regulate 1600 labs, regulate 75% of the genetic testing going on in the country because all of the major labs are New York state licensed and the courts look with great disfavor when it turns out the lab didn't meet New York standards, they are more rigorous rig than CLIA. For residents who choose to avoid the problems, and I believe there's a problem for the rest of the country. Relevant to the retention of specimens, the genome profiles, New York civil rights law requires the specimen be destroyed at 60 days, unless the tested individual explicitly requests retention, and it be identified for unspecified research. If retained in identified format or used for genetics research it must be an explicit genetics research. The issue regarding genome scans came up, what about the data? It's more efficient to run the full SNP profile, you can get all the data now, you don't need to keep spes man. That data, don't know what it means, can we keep the data, mine the data later? We have said yes, if the new analytical purpose of mining the data has been validated, and if the patient's physician explicitly orders the new test. Complicated.
Dr. Dale, Kevin, Mike, and then we need to move on.
Kevin?
Where were you before?
Question: To do a quick follow-up, of course the questions are always too brief, but to get back to this person or utility issue, I don't want it to become too confused. Obviously, one would hope anything involved in healthcare would have personal utility. The question is how are we going to try and put parameters around what we are doing, to what end? Where does clinical utility come in as a bottom line, or is it? If it isn't, what kind of utility will be. There's personal utility, and public utility. If we are collecting this data, putting it in public databases, obviously government institutions can come in, claim the utility to [indiscernible] [audio tone on line]
[Laughing] that's nothing new.
Depends on what the desired end product is. If you are a payer for health experience, clinical utility would be largely what you are thinking about. Regulatory authority, wondering whether to offer the tests period, you would need aggregate measure of worth. Say some state decided no, you can't over genome-wide scans. To make decision they would have to look at clinical utility, some other more nebulous measure whether for a consumer this has value beyond what the doc or nurse will use the information in the clinical setting. I think it very much matters in what window. To me it would make sense to explore, moving to a broader definition, narrow view of clinical utility for the majority of these discussions when talking about a societal perspective.
Some individuals would argue they can themselves decide if it bears utility, people without a family history may find a personal utility that may otherwise not be --
That gets back to what we see as the ultimate utility of this information. Is this just another commodity for people to buy, like a car, or is this in some way different because it has to do with healthcare. It's an intersection of things. I am curious to see where you see things going, the emphasis laying.
Look around at other healthcare applications, what you can access, and can't, don't use a genetic [indiscernible] list on this. You can go out and buy a lot of things that don't make a lot of sense in our healthcare system right now. You should have is genetics so different that we should hold it to a different standard. We entertain that because the --
I was wondering if, I know as far as process, the next part of the agenda is to get into next steps, action items, but considering the fact that we, our panelists have thought about this a lot before they go and sit down, we lose them; would it be appropriate to ask you guys what you think we should recommend to the Secretary? What the next step should be with regards to direct-to-consumer testing. Given the balance we may be learning something from the research done by these companies, maybe not, still unclear, but is there potential for things to be learned, and would we be throwing the baby out with the bath water?
You can advise us on things we might want to take up by way of things, rather than specific recommendations, what are the areas we should be looking at, that would add to the utility for the Secretary.
When PMC was having our work, we had the same conversation over and over, this is kind of early, soon, five years from now at the most, the technology will be completely different, and there is a baby/bath water issue, horse out of the barn issue, and I could think of more. I suggest this committee look forward, no matter what you do.
Okay, Jim
I want to put in perspective this issue of utility. One of the things we have to recognize, robust -- will exist, outside the traditional medical model, outside of the Academy. Therefore, when we get to issues of utility, somewhat dubious or -- the comment about perhaps personal utility having some merit is well taken. But what we are have to do then in that context is have to reconcile claims that are made with utilities. In other words, if laboratories are going to really either de facto or explicitly make medical claims, they have to be held to traditional models of clinical utility. If they choose to market their product as entertainment, hobbies, fine. Then people are free to interpret their own personal utility, but they then cannot make medical claims.
What's really important, that we have some reconciliation between the claims made and what is actually being offered.
Greg could probably answer this better than I can, but I will take a stab. At the CDC/NIH event one of the participants said [indiscernible] Navigenics, 23 and Me, they are talking to federal regulators, researchers, and there are companies who are not. These companies are cautious about making medical claims.
Actually, they are making medical claims, obvious in the website, advertising. That's where we need reconciliation.
That's the real challenge. The explicit versus the implicit claim of clinical usefulness. I don't have a solid sense as to how you can deal with that, in the current environment, beyond being fairly draconian about what SNPs you are using.
This is brief, I think the answer is ultimately, how we define the policy side of clinical utility, keep a close eye on the -- month and a half, the dark matter of the genome, we are trying to figure out where is all the inheritance, all this SNP stuff being done, we are not seeing the amount of inheritance expected. There's a lot of unanswered questions, for companies to be making claims about anything, makes the people I see around me say ' what the --'s
What are some of the next steps? One thing this committee could help do, focus HHS's attention on the need for a very considered and thoughtful approach to the issue of translational research in this area. I think that it's clear the prime mission of most of the research is in the early discovery phase, probably very justified, exceedingly justified, but just as we had a focus on [indiscernible] early on in this topic area, we are moving to a stage where maybe there should be an increased emphasis, similar to Elsie, making sure the move to clinical application is done in a careful and considered way.
We get five seconds each, a pause and --
I wanted to point out to Jim's comment, blood groups have been measured, have an important clinical utility in transfusion and -- yet cultures use blood for all sorts of things.
Doesn't mean they are correct.
They are what they are.
We should not be in the business of prom up prom promulgating myths.
In the information from PMC, if I am not mistan, seems there's an attempt to create an island of sorts by using terms like informational, in other words recreational testing, medical testing, and then there's informational testing, which seems to relate to some of this issue about personal utility. Some of this reflects, the rugged individual limp of the American people, but the reality is I would be reluctant to let the company define where it wants to sit. Then we would be in the same situation currently with neutraceuticals, you claim I am nutritional, not a drug, I am exempted from a tremendous amount of regulation, yet we know, have very good examples that the harm may be quite more substantial than what we have in the pharmaceutical industry. We have to be cautious creating safe harbors, using imprecisely.
Let me thank the panelists, you obviously sparked an interesting discussion we need to grapple with, many thanks. Eventually we will get back to you.
Thank you.
[Applause]
Having heard all of this, you have some suggestions for how to proceed.
Okay, the next section is going to be proposal for short-action for the committedee, and I think I am going to start before the slides get up so we can save time. The proposal for the short-term action is that we develop a brief document that reviews the concerns about direct-to-consumer testing, such as the meta data, clinical utility of test, consumer understanding, private as, oversight regulations. The reason we picked those, because we have recommendations from SACGHS on them. So instead of making few recommendations, this would be taking recommendations we already have to address the issues and then recommending other action steps for a more in-depth report or other actions. Keep in your mind this is a short-term action step.
When we went through the recommendations, which all committee members should have memorized, tattooed on your body, new members should have that done as soon as possible, we found there were two recommendations that would deal with the clinical utility, validity recommendations; dealing with consumer education, privacy protection, false and misleading claims. If you remember, I won't read through them all, as I read them I realize we are a very wordy bunch. This first recommendation, Cathy and I think have to do with consumer issues are the FDA violation of lab tests, sure the FDA colleague is glad to hear we are bringing that up again.
Continuing on, clinical validity recommendation, creating that public/private work group, develop criteria for risk stratification, how to apply the criteria, and the love love Lee Mandon lovely [indiscernible] very long recommendation that goes on for three slides. Lynn biological utility on funding clinical utility research and how to disseminate that information to the public so they can use it. Educational recommendations are public and private entities should address knowledge deficiencies. And also the need to train and educate healthcare providers with appropriate funding, resources, et cetera.
That recommendation continues with appropriate funding for -- education resources made available on websites to help consumers make informed decisions about their healthcare.
We have that regulation that CMS logged about CLIA oversight, privacy protection, the regulation that we had put up to address those false and misleading claims to regulate marketing of the direct-to-consumer genetic testing.
So those are were seven recommendations, there could be others. The progress report included in your briefing book, if you want to start memorizing them now. So, next steps are to, if the committee decides we want to take this next short-term action step, is to form a small, short-term task force, means less than three years long, get out a fast report to get recommendations back up for the area that seems to be in the news a lot, into the new administration so we can highlight some of these existing recommendations we have had for so long. Then also have the short-term task force look at what issues have not been addressed by prior recommendations and what further work might need to be done.
Great. Did you want to comment?
The idea is we will develop a brief report, specifically addressing direct-to-consumer issues, and pull from the previous report issues that will be highlighted, that we are concerned --
Then we can also put what issues we need further study on, because we are not going to do this in-depth four-year report we do all the time.
I like the idea. Needs to be separately addressed, even though we have the other report, just specific --
In considering this, I know Jim's presence in the Women's magazine -- data points, but I would be curious about whether we are monitoring the relative success of these enterprises. The fact they are present, get a lot of coverage in the media, doesn't necessarily indicate they are falling off the shelf in terms of popularity. I wonder if that data might frame some of the issues, the amount of money being spent. We saw in the panels, here in Washington, a lot of money is spent on BGC, genetic testing, not sure it deserves --
One of the issues the small, short-term task force needs to look at, whether it's actually happening. I don't know what we can do to evaluate that unless they give us their financials, interesting.
We had some information today, 1000 people in [indiscernible], close to it, used the testing. It bounds the lower level.
[indiscernible] start showing up in magazines, [indiscernible]
Yeah, exactly.
I think Amy's recommendation for thinking, looking forward is really critical, because the GWA studies, we made a decision not to worry about standards because we don't think the technology will last that long. With the government it takes us a while to do anything. In four or five years, what we see as the technology, not just us, but what we understand the technology will be, sequencing. I think it's critical that yeah, maybe the kits are not flying off the shelf right now, but when it's possible for $1000 to get your entire genome sequenced, a lot of people will go after that.
I agree with Mike. Relative financial performance, relevant, talked about, is not a key issue. We could spend a lot of time saying what is successful, not, deal in the future panel tomorrow, it needs to be something from a policy point of view. This has the potential of being relevant, and therefore high priority, not literally what is happening today.
I think, actually, [indiscernible] economic situation, if anything is going to -- make the product cheaper, look at 23 and Me, went to -- the cost of doing this decreases, and the financial pressure, they will lower the cost, may increase the outreach. We have to continue to do this.
I heard it earlier, wanted to echo this, lost in the morass, it's going to be critical for some kind of strong recommendation, monitoring, assessment, whatever we come up with, that we consider that, particularly around this, put forth the policy issue, need to consider what type of -- what is going to be the mechanism to do that, it will be critical term.
The technology will being rapid lie, by the time we fully understand, we will look at sequencing rather than a scan, the amount of people signing up to do a 23 and Me or Navigenics -- if we consider the implications of DTC for scan and -- it's a broader issue of people buying or getting information for which the validity and utility are unknown and rapidly changing, makes it an important point to look at.
Barbara, then mark.
The price is going down, but still, even $400, a certain segment of the population, health of the nation, be cognizant of who we are looking at. The larger issue, specific people, principles, then it makes good sense.
Mark? David?
So, this also relates to the issue of sequencing and cost. The point that's going to be different, the price point is not going to effect the consumer uptake, the price is going to effect the purchasers of services, like the government and payers. If payers can get the whole genome in $1000, they won't pay $4000 to get one gene. Could completely change the paradigm. There will be way more information than what was specifically asked for, be a changing paradigm. A lot of the same issues relating to validity and utility.
The small point I wanted to make, to emphasize something I heard in the Cogent presentation, actually they were al cogent presentations, but -- the physicians want a good housekeeping seal of A approval, a strong external enforcement for what this committee felt, I would like to move that up the prioritization.
David, then Robin.
I was going to comment I appreciate Jim being willing to speak up about unsubstantiated claims. On the other hand, the technology has a real promise in terms of medical application. We need to push the research agenda to define where that application is most appropriate.
Two things. One piece, I very much agree with Phyllis' comment, have to be technology agnostic, we cannot anticipate what technologies are, deal with the information. Sylvia, I go back to the comment about the time frame, whether it's one year or three or four years. My concern on putting a priority on this is when will the regulations likely be prom promulgated, there's going to be a lot of activity, what I sense now, on putting regulations on this more or less, that happens in the next year, us having a report that's three years will not become relevant. I think the prioritization in terms of timing is our key issue, and coordinating with other bodies that may be taking action during this period of time is the most important piece to ensure what we do is actually relevant, helps the argument.
You are talking about something fairly short-term here.
I would like to pull some of this together.
I would like to add a brief technical point, to the extent this document is going to be reviewing main concerns, and on slide two, one concern is privacy protections, I think it's going to be very important to ensure we are distinguishing between, is this an inadequaciy with current privacy protections, or is it, as I heard the reports coming in, a lack of awareness and perhaps misunderstanding of protections that already exist. I want to make that point because you will see in the next session when we get to research and the HIPAA privacy rule, another issue we will be raising.
Let me pull this together a little bit.
[Captioner transition]
Probably in the June meeting, I heard issues being raised, particularly utilities --
Which of the constellation of other things will rise to the level that we should address and in what time frame and in what way.
I just had one the other suggestion in writing and thinking of this, it should be fluid. Maybe you could put in acceptance, as far as the future, to the point where you need not make great deal of restriction or the ability is understood. Then, maybe you need additional restriction so the standards are in place for the technology.
Looking at the overall process.
I would agree with your recommendation with o ne addition, which is, to understand what the hell out other relevant bodies might be doing my the a key piece to include in genome so we are not overlapping with what other groups are doing.
Does that seem like a reasonable proposal? If so, if there someone that does not agree and wants us to do something? If not, could I get some volunteers that will work with our Dear colleague, Sylvia Au?
[ Audio/Speaker not clear].
[ LAUGHING ].
I have Jim, David, Katie with a proxy vote and Andre. Others that want to, you can let the staff no.
I would think that's if Sarah is not on the list-that that is not terrific suggestion. Can we draft you, Sarah?
[ Audio/Speaker not clear].
I do think these are really critical issues out there that go beyond our traditional FDA thinking about these issueses. All right. Having reached this point and gotten to a decision, we have earned a short break for the thank you, Sarah. We will return at a quarter past to continue. Thank you.
[Break until 3:15p ET].
If everyone can join us again up here that, we can get going and began with Dr. Hou.
All right, folks. We are going to move onto the next session. Welcome back. This session is going to be on also a very topical issue about discrimination issues related to genomic data sharing. It is very timely as we were all of the discussions regarding HIPAA. We are going to take advantage of Kevin--
What else is no?
He always talks about these issues. Kevin, let me turn it over to you to introduce the speakers.
Actually, Mark wants to go next.
[ LAUGHING ].
Thank you, Steve. Action, it is great when you could to go a little later in the DE. There is many references to the topic and the spectrum that you wish to address. I have a lot of people to thank. I want to thank Greg leading us into this asking for next steps and Robin who disappeared on me for talking about the need to focus in on privacy. Is it a problem with the law? Isa problem with public understanding? Is it more than all of that? If so, how do we describe that terrain? Also, we heard from Christy about the lack of public awareness of legislation like GINA. Finally, I would like to point out what Phyllis was talking about, briefly. If you go to those talents grants and look in the bioethics, every topic listed has some connection to this area that we are going to discuss now. You have informed consent and data access policies, unique ethical issues--ethical issues associated with electronic sharing of health information, ethical information with knowledge to clinical practice, ethical issues raised by blurring of treatment and research and we contact issues--All of these things are going to impinge upon informed consent, privacy, confidentiality, potential discrimination of team that the sharing of data. Will do it like to do, today, to dive into the deep end since we do not have enough time to come from the shallow, is take a look at the two area plans that have already have some work done on them by some other organizations that work in parallel to SACGHS. Our first presentation will be by another person who is well known by this committee, Rod Howell, representing, I would think the one group in government that has a worse acronym then we do for trying to pronounced as a word. I will not even try purgative the advisory committee for heritable disorders in newborns and children. He is at the University of Miami and is the professor of pediatrics and chairs the best the Leonard Miller School of Medicine. He will enlighten us as to the efforts of our sister group. Thanks, Rod.
Kevin, thank you, very much. I am delighted to be here. Our name has improved. With the revision of our new charter that was signed this February, our needs to be secretary Advisory Committee on genetic and diseases-test newborns and children. Apparently, the folks thought that [ indiscernible ] and genetics were redundant. I am delighted to be here this afternoon and will spend a fair amount of time, not that much amount of time, talking about this committee and taught a little bit about what we are trying to do. I will spend quite a lot of time talking about the discussions to the committee about how conditions are actually recommended for the newborn screening panel, which is one of the things that you have been talking today, the value and utility of genetic testing. Let me to comment at the beginning of this. To our committee, although it has done fairly broad charter, we have spent much of our time on newborn screening. There are several very interesting things about newborn screening that I think this committee is very aware of it but would like to remind you of again. Each year that we test 4.1 million babies in this country. At the current time, the average number of tests on an average baby is about 30. We are doing about 120 million tests that aren't straight forward and genetic tests using genetic technology. The other interesting thing is that all of this testing is done under the state health department. These are public health Programs. Although we polkas and try to recommend national standards and national policies, the ultimate decisions about how they are implemented and what the takeoff is, reside with the state. Let me just comment briefly comment the committee was authorized under the children health Act of 2000, that is the same act, as a matter of interest, that also require the establishment of the children's health study that is going under [ indiscernible ]. The committee first met in June of 2004 and has, basically, been functioning for about five years. At the time the committee was co-founded, one of the driving forces that was going on and the problem with the fact that I mentioned that newborn screening is a State program. There has been extraordinary variability and becoming a tremendous problem for screening for a handful of conditions and as people moved around, it created very real problems as far as you have a child that was born in Connecticut and identified with a condition and move to Virginia which is now one of the slow States to move along and they were not screening for it. You have a new baby and what did you do? It was not very big issue. Let me show you what has happened since we started work in the summer of 2004. This is just a snapshot showing that at that time, about 28 of the states in the country were screening for under 10 to 20 conditions. As you can see, since December of 2008, those fewer than 10 and fewer than 20 have fundamentally disappeared and it virtually all of the states in the country are currently screening for what has been recommended as the court set of conditionses. Fundamentally, this statute has said that we are supposed to come up with ideas and recommendations for the state screening program that would meet the federal guidelines. The committee, also, was required to establish a grant program that has never had any money in it until last week, you will be glad to know. That will be an interesting thing. One of the interesting things is when we first arted working on this committee, one of the discussions that came up--we are going to make all of these recommendations and so forth and since newborn screening is a State program, you can make all of the recommendations you want and nothing will ever happen. The first fight I should you have shown that not to be true. Basically, what has happened is once national standards and so forth are recommended by a group that thinks them through carefully and so forth, the state sends to pick them up with their review committees and also, I will not get into it but parental work at the state level has been very important in moving this along. The bill that has recently been passed in 2008 has reauthorize the committee and is reauthorize under a the regards Bill called the newborn screening--Act of 2008, which was passed, unanimously by both the House and Senate and signed by President Bush in late 2008. It has requirements for the state, the Secretary of HHS is to ensure the quality of laboratories and golf went speeding, the development of national contingency plans for newborn screening. This became a very big issue during Katrina when the state laboratory of Louisiana was completely wiped out in the hurricane. You have all of the operations of the state, etc., and so forth. It also have specific discussions about the National institutes of health during out newborn screenings. NIH has already been doing that but has a lot of language and also names of programs at the NIH, the hunter killing of newborn screening research program after the big advocates of this Bill. We have spent a great deal of time considering the committee has, how conditions should be added, now. The nomination process that has been worked on and approved by the committee, it was felt that there should be broad access to the process that anybody should be able to nominate a condition. The process should be very transparent. There should be consistent criteria and there should be a structured evidence review group. This is one of the more exciting things that the committee has done. That is that there has never been traditional evidence reviews of reconditions, because they are rare and the traditional patterns of review do not work terribly well. The committee has contacted with Dr. [ indiscernible ] at Harvard to have a contract to organize and to evidence reviews in a systematic way of anything that comes to the committee. The three areas of consideration are the condition itself, the test and treatment. This is the nomination form and is your thing, here. I will not spend them lot of time going into it, but it has a section discussing the incident of condition, timing of Ansett, severity. It has not been lot of information about the test itself the you have been discussing today about how the test will be used, the validity, the laboratory performance and risk and so forth and the treatment that includes modality, it urgency, efficiency, and availability, etc.. It has a core set of references and is very similar to the nomination form used by the American Council of--It has been polished and so forth perk of the very big thing to come is the evidence review committee. The condition is nominated, the advisor committee looked at a nomination form just like you saw perk of the committee and a subgroup of the committee will look at that and decide, based on the information there, that it looks like a reasonable nomination and sufficiently meritorious that it will be sent for evidence review part of the evidence review is a big deal. It is expensive and everything that comes along is not deemed worthy of a evidence review because of the money and time involved. Fundamentally, we have approved that and reviewed that this is a very simple thing. The nomination form comes in. It goes to the--The executive secretary of the committee, she recites at HIRSA. Her staff looks at the at nomination, just to be shared it is complete. They do not make decisions. All of the stuff has to be there and so forth perk of the advisory looks at it and looks and transcended for a evidence review. And then comes back to the committee and they send a recommendation to the Secretary. These are the questions that are in the evidence review. They, basically, are taken heavily off the nomination form. I will not go into that, the benefits, harms, risks, cost, evidence rebuke, the decision model and evidence questions, the search methods that are to be used or defined, the study, data collection and review that are used by the doctor and his crew, they review peer review literature only, English only. They do look at great literature from the pharmaceutical companies and so forth. They exclude case reports, which is a problem with rare diseases but to exclude those, and so forth. They review consensus statements as guides but do not abstract those. They do standard quality assessment methods. I might point out, traditional evidence-based systems. They analyze any raw data that they can acquire from unpublished sources, etc.. They also, routinely, have focus groups. They have investigators and families. They synthesized the data and provide it to the committee. They look at any recent rationale with treatments and, fundamentally, provide timely innovation, timely information for the committee so that the committee can make a specific recommendation to. The results that come back to the committee, and we have had a chance to have several of these reviews come back to the committee, they follow this and summarize the key findings and indicate, which is extremely helpful, for evidence that is absent or what evidence would be most critical. What we do not know, the level of certainty, and new information. The expert review group is independent and does not make decisions. It provides detailed information. The decision capped by the advisory committee, I might point out, it will be published. They are all on the website. They will be published in journals as they come along. Here are the recommendations that the committee might make. One is once it goes to the evidence review group, it comes back to the advisory committee. The committee can review all of that and make the following recommendations. Recommending adding to the court panel. That means that all of the information is there. It is convincing. It works, etc., and we should recommend that it be added. We have not yet had a condition come to the committee that has meant that level, I might point out. The second is recommended not adding to the panel, but recommending additional studies. The kind of information you would get back, this is a important condition. The treatment really looks good. The test looks like it works, but there has not been on the test done in the public health laboratory or large group, etc.. We do not have sufficient information to recommend going to a core panel. The third recommendation is recommending not adding to the panel, but additional evidence is needed. That is very different. The thing is that there does not seem to be enough permission there to make a decision. If we did not know enough about the condition common enough about anything, but basically, I need to get this together and come back. Finally, recommending that adding to the panel. That last recommendation is a level of certainty. In other words, the data is there but has not justified be added to the panel. That is not level of certainty.
Now, at our meeting, just very recently, we had two major discussions that I would like to describe to you and is very much what you are dealing with here and so forth. The first was the translation research policy and the introduction and discussions, the institution review boards, informed decisions and an extraordinarily important area that we had and discussion with was the residual blood spot--the institutional review board discussion was moderated by Jeff [ indiscernible ]. We had presentations and discussions by it Bartlett from the Office of Human Research protection and from Alan Fleischman who serves as the be [ indiscernible ] on the national Tilden's study and medical director of the March of Dimes. The material that we heard about and was discussed is that Jeff provided an overview of the regulation, oversight and research with children. Dr.Bartlett described the regulatory options for multi-center Research, meetings on alternative IRB models, etc. and to hold [ indiscernible ] directly accountable. Alan discuss the translation research team at the context of how we can make it work and provided an overview of the California and Massachusetts model for obtaining informed consent. Let me comment desperately about the California and Massachusetts model of obtaining informed consent. When California was introduced--it was deemed, since this was an experimental technology that they would need to acquire a large pilot project, informed consent. That turned out to be extremely complicated. They got only a very small portion of the people that they asked to participate, to participate. That has been discussed a great deal, but about 25% participated. On the other hand, Massachusetts had a similar type program and they had what I would call their usual pattern of screening tests that they were doing. As they decided to expand the panel, they did that with permission. Interestingly enough, they did this for a number of years and it turned out that nobody was turning them down. D other words, they were getting permission from almost every body part of the method of getting the permission is different, but that is a very interesting area. One of the questions that it is important for this group to understand is that one of the reasons that we are particularly interested in the institutional review boards and certifications is that at the current time, as we move into new conditions that might be used in newborn screening nationally, we might do multi-that our committee will not be, but the group will work with will be. Obviously, these become very, very important issues to discuss. Our final discussion was residual blood [ indiscernible ] and uses. Many of you know that Kerrey has been responsible for the operation, the quality assurance program at the CDC for newborn screening for DEC eights. He reviewed, with the committee the current patterns of storage retention and use the residual dry blood spots in the country. I think that this group is aware of the tremendous interest in be dried blood spot. Obviously, it is used in newborn screening for looking for [ indiscernible ] metabolite enzymes. It is obviously used for certain conditions. Some states do not retain the spots at all. In other words, they will discard them promptly part of the major reason they do that is they do not want to deal with the question of how to store them and how do you use them? The safest way to get around that is to throw them away. At the other end of the spectrum, there are staple of the reserve them in perpetuity in very careful conditions. California is not good example of that. With 500,000 deliveries a year, they have millions of spots on hand. How they are used in the state there is almost-I might point out, if you look at the Spectrum, states will keep them for you to variations for months, weeks, years, etc.. How the state's use them and so forth was addressed a lot by just about how one might address how they are used. They have commonly been used by state laboratories in establishing [ indiscernible ]. If you want to set up as best it has been traditional with those spots being an itemized and brought into the laboratory and see if your tests are working and getting the kind of results--they have been used by many, many states and so forth. Obviously, for them to be used with their name attached has, historically, always required parental permission, etc.. In talking about dry blood spot, it would be a travesty to not mention Denmark who has been returning their samples for over 25 years. They have one of the most well organized and well monitored repositories in the world at the [ indiscernible ] Institute there operated by Dr. Peterson. They have federal legislation dealing with those spots. Those spots have proved invaluable in Denmark four a variety of studies. Number one, they can find all of their people. People tend to stay in Denmark. They can find people for a longtime. They have been able to go back if they have a given condition in someone who is 20 years old, they can retrieve that spot and identify things. It has been a valuable repository. For example, one of the things they are considering doing at the current time, which is the kind of thing we have great problems doing, one of the vehicles of discussions in newborn screening we do not do in this country is deciding [ indiscernible ] and how important is for the hearing difficulties. Denmark has a incredibly organized hearing Program. They know everyone in the country who has hard of hearing situations and how hard of hearing they are. They are preparing to go back now and look at their dry blood spot to see how many of those might be related to [ indiscernible ]. They use those in a very efficient way. They have very discreet and well-defined federal regulations about what they can do. I have a feeling as our committee in the coming months and weeks, we are going to, obviously, the drafting of a white paper that will discuss some of the issues about the institutional review board. We will, obviously, make some recommendations to the Secretary after considerable discussions about policies for retaining blood spots and informing consent for stored samples. I think these will be very key issues as we move forward in the coming weeks and years. Thank you, very much.
Thank you. Thank you, again, for a marvelous presentation, which I am sure will raise a lot of questions. We will hold the questions for now. Will go to our second group, which is being led by Larry Goston was the chair of the best-and the privacy of health, which then led to a report, which is beyond the HIPAA role, enhancing privacy, improving health three Research. Larry is also an omen of the Editors of that report to. Also, I have to tell you that Larry is the a faculty member of a appear less academic institution here in Washington D.C., often known as Georgetown University circle you did not think I am trying to make sure I have a safety next when I am proud of this island?
[ LAUGHING ].
Are there others with you?
Is not, there are part of the others with you, if I am not mistaken, are Stanley, Stanley is a attorney and privacy officer. Dr.Thomas [ indiscernible ] is not senior fellow at mathematics Policy Research here in Washington D.C. and Andrew Nelson who is the executive director of health Partners Research Foundation. Did I get it? All right. It is all yours, Larry.
We decided since we have a relatively short amount of time, we would dispense with all of us giving the remarks. My colleagues, hopefully they will come up and not stand at the back, will be able to answer any of your questions. I will take about 10 minutes or so to familiarize you with the report. Then, we will take questions. I have to ask your forgiveness and before I began. I do have to leave a little bit early. I have another appointment. The Institute of Medicine has the following charge: We were asked to make an assessment as to whether the HIPAA privacy Rules undermined or interfered with health Research. If so, what recommendations we might make it for the reform of the HIPAA privacy Rules. Clearly, this role is of very great importance at the moment. The stimulus package gave a good deal of money for health Information Technology and, also, tried to firm up some of the provisions in the HIPAA role and similarly, the rule back to HHS asking for some Reformations. So, we believe that our report is timely and important. In answer to our charge, we found that the HIPAA rule, did, team that fact, undermine important and valuable health research. Therefore, we made a number of recommendations about privacy, relating both to the HIPAA rule and the common role. We took the view that there were two exceedingly and equally compelling values the in Society. One of the views is privacy and security so that patients must have strong expectations is that their personal information will be kept in a private and secure way. Add the same time, we thought there was an equally compelling individual and societal values in Research. Without good quality research, the public is less safe, less healthy. It stops an important scientific discoveries. We, as a society, have equally powerful interests in both. The IOM committee made recommendations that we thought will do both, which is to do both, for privacy and also to maintain and facilitate important and valuable research team at our society. We took the view that under the current model of authorization or consent, under the HIPAA privacy Rules and also under the common rule, those rules were, actually, intended to protect privacy, but, in fact, do not protect privacy well at all. At the same time, had the adverse effect of really competing important research that we need to do it in the country. We, therefore, made two sets of recommendations. One is a bold, innovative approach to changing the entire framework or paradigm of how we think about privacy, consent and Research in the United States Today. It is something that does not follow the same model of autonomy, control and ownership of information, which has been very much a part of bioethics and lot for a long time and, frankly, what the public expects, it is clear we face an expectation of the public that does not conform with our views of how this should be protected. At the same time, as we have delivered our report and as we have talked to policy-makers and lawyers, in the country, not everyone agrees with everything that we need to have a new, fresh, careful approach to privacy and Research. The second part of our report was under the recognition that not everyone will agree with our innovative strategy. Even if they do agree, which we believe many will agree, the political obstacles of doing that are extremely difficult. We, therefore, may a lot of the careful, detailed and thoughtful recommendations for reform under the HIPAA privacy Rules and common rule, which would have the effect both of improving privacy and facilitating Research. Let me, very briefly, give you an account of these two approaches. First, the bold approach. Why do we say that the current model of authorization and control, each individual's control of information is not protected privacy? There are several reasons. One is the fact that the privacy will and common rules are what lawyers call under inclusive. That is, they only apply to a certain number of patients and transactions, leading many other day to pass, Research participants and other transactions that are not covered under the rule, virtually unprotected. You have a ruled that protects some, does not protect others. The second reason is that we found that the privacy rules and the common rule are highly inconsistent and had extreme lack of uniformity. So, in any given situation, depending on which will applies or how the rule is interpreted by a privacy board or IRB, what will happen is you will have opposite or inconsistent results. The under inclusiveness, that is, who should be protected and who should not, and the inconsistency, that is two different people or two different circumstances of light circumstances be treated differently, we found had no ethically or legally or other principle that justified them. It was, simply, a question of happenstance and how these rules evolved over time. There was no, it even colorable ethical reason why you would treat these things so differently. Finally, why the current model does not protect privacy is that we find is mostly formalistic and not meaningful. When a data goes to a doctor's office, for example and is given a privacy notice, most of us do not read it. I am a law professor and I do not barely understand it. It would not really matter if I understand it. If I did not sign it, I would not be treated, anyway. That is no the formalistic way, the accounting for disclosure, privacy notice, it is substituting form for substance. So, we wanted to go to a model that was not something that was formed but substance. We made a lot of proposals for, essentially, two thanks. One is to have very strong privacy safeguards. That is to make sure that institutions that hold data for research purposes are certified and are trustworthy. Secondly, they have privacy practices. That is, who they would authorize getting that information, which are consistent and strict. Third, that there are very detailed and careful, will spell out in the report, security provisions. So, if you think about what research subjects should be worried about, it is to relieve those things, but not about having absolute command and control over every bit of their information. At the same time, we've found that having this idea of consent doing all of the whort in this area, thwarts research team that very significant ways. We discussed many of them in the report. One that I want to point out is the problem of selection by is. If each and every individual controlled all of their information and some of them would be more likely to opt in and some to opt out, it means that the results might be wrong. They might be skewed in the wrong direction. There are other reasons, for example, researchers, they might not need to have names and so forth, but they will need to follow individual recent participants overtime. To do that, they have to have a means of linking. We suggest that in our report in a way that we believe that would be very helpful. It only from a common-sense point of view, and if you have any individual patients or 10 patients or 100 patients or 1,000 or tens of thousands, if every single one of them could say that I agree to this piece of information but not that, or you can use it for prostate cancer but not for breast cancer or for heart disease but not AIDS and Aristides, to me, that does not make common sense and is not protective of what we are trying to protect, which is to make sure that employs, family, friends, do not get this information in any way that harm or embarrass. We make a number of very bold proposals but also recognize the political problems and recognize that not everyone will agree that we should change the model. We understand there are genuine differences of perception. Therefore, we make very detailed proposals about how we can change the common rule and the privacy rules, either by more clarification in interpretation and guidance, by HHS and OCR, or by changes in the HIPAA rule. Notice in the stimulus package as I notice that HHS is being asked to open. It is timely. Finally, only if necessary, asking Congress to make some changes. We try to have a gradual approach, making it as easy as possible for policymakers, if they agree with our approach to be able to adopt it in ways that make sense probably thank you very much for allowing us the opportunity to present our report to you. We will have a paper in JAMA summarizing our conclusions and having additional observations sometime the first week of April and will invite our staff and committee members to come up and answer any of your questions. Thank you, very much, for having us.
Thank you, Larry. That was excellent. We like to invite the staff members. If you would also come up, Rod. I think the presentations will probably engender a good deal of comment or question from this normally shy and retiring group. I will throw the four open at the moment. Sylvia, you get to go first.
You want to jump in front of me Kevin, or Mark? I does want to clarify something as Rod said. For the California program, actually, what happened is it was not attended by% of the participants that gave consent to go for the pilot project. What happened in their state is they needed to go through IRB of every single medical facility that was going to be in the batch as they did not have the time or manpower to do that with each medical facility. Only 25% of the newborns that were born in the state could actually participate the other 75% were born in institutions that they did not complete the IRB. It was not that it was 25% of all of the families that were asked that participated part of the honorees and I know this is we were trying to do a comparison study. We did informed consent with our pilot in Hawaii. We had our people talk to parents four it 20 to 40 minutes before they consented. We were going to compare it with the California program and handed them a brochure and had dinner say asked if they were informed and wanted to participate. We could not do that at the end because the California people realized that some of the nursing staff were sticking the yes sticker on without asking the patients if they really meant yes.
[ LAUGHING ].
I think Sylvia's comment brings up the issue if you are trying to do form consent for something that is national or state-wide and have to deal with so many IRBs, it is [ indiscernible ]. That is, obviously, a significant thing part of the other thing that Michelle reminded me of is in Massachusetts, they used a informed be sent program which is now made little difference. Many of us in the field think that the best way to look at the informed consent what newborn screening is to have a very Good information program and have people descent who do not want to do.
Before we leave the newborn screening, I have a question. It is great to see that this is getting on a much firmer evidence-based farming with going forward to strengthen things. Are you going to have a chance to go back and look at the ones that were already recommended and reassess those, how strong the evidence base is for those? I know becomes a challenge to revisit.
That has been discussed. I think at this point in time, there has not been content decision been made on that period. It has not been made.
Just following up on that issue, with the report, and I am intrigued by the body language here. Work any of you involved with working with Larry before?
[ LAUGHING ].
So, anyway, it in the report, one of the issues, I am sure will be issued a deal to us as Indian health and dental X-rays has a interesting database with newborn screening. How are you addressing that particular issue with this idea of restructuring our way of looking at the privacy?
The committee discussed the issue of linking databases, which is, really, a main part of what it does mention. It is very important to health Service researchers an important to all of us with genetic Information. Act there were at several recommendations. The one that I want to mention is to have some sort of certification of organizations that met all of the criteria that Larry mentioned, such as security, privacy practices and so on that would be then trusted to take data from various data sets, link them in sensible ways that make them Research usable and make them available in a [ indiscernible ] or limited datasets manner, depending on what was most appropriate for the Research question.
Just as a follow up to that, one of the issues that has come up before this committee is the idea of how do we define deidentified? If we start sequencing that one pass for a thousand dollars, is there a criteria that you have or a set of criteria for that particular issue? What are you going to use as a standard for deidentified?
The committee looked at a lot of different resources. Oneof them was to look outside of the U.S., as well. The European Union, the 27 member states of there, they have an organizing body around the data protection--They have written a paper that references a genetic information. Their assessment was at this point that, genetic and permission in general, cannot be identified without the preference. It does not directly answer your question. Your question is by for 10 years from now, well, in that, 50 or $0.70, how will that be created? I think that one of the recommendations from the committee and setting aside Research, apart from the rest of the privacy Rules and having it own model, enables you to be more nimble and be more flexible in your assessment without all of the other entanglements of the [ indiscernible ] Healthcare. You will have to consider as it makes changes. What is identifiable, and for what purpose? Tom was explaining that there are protective mechanisms about the identification where we will have the committee focused on versus what is truly deidentified? At the heart that we are trying to prevent in setting up the model, the harm, rather than trying to pursue an elusive concept of continually updating the deidentified criteria.
Thank you. I decided to point out to everyone, it to next our efforts to deidentify Tom--
I have a question for Larry and your colleagues. Separate from the issue of lack of coverage of the common rule, it does not cover all research involving data and separate from the inconsistencies between the common rule and privacy role, were there specific provisions of the common world that you identified as being problematic? That does not come across clearly to me in looking at the committee's recommendations.
The common rule is a HHS-wide adopted common rule. At the same time, trying to harmonize that with the privacy Rules, it sometimes confuses IRBs. Oftentimes, when confusion happens at a local level, more conservative decisions are made. You have less organizations, less individuals and less IRBs that are willing to do multi-type studies. There lies the complications.
You are really focusing on the lack of harmony between it two rules. At the privacy rules did not exist and you only have the common rules that apply to most federal agencies in addition to HHS, would there still be a problem but that is what I am getting.
There are a couple of things. One is a more comprehensive privacy regime to encompass the comment role, privacy and research are equally important to the common rule does not go far enough and in their privacy-protected regime. It is a marriage between the privacy regulations under HIPAA with the common goal. Then, there were some very specific security recommendations, regardless of what paradigm was used. That is probably the most significant. In b it [ indiscernible ], there were areas like secondary use. There was probably [ indiscernible ] on the common rule having figured out how the IRB should advise with the consent form and if there was sufficient enough to consent to secondary as. There is an understanding that expertise would exist within the IRB despite some of the issues we already have with the common rule, I think.
The other thing is that the common goal only covers what is funded by the federal government. We feel very strongly that this should apply to all research, regardless of what funding source.
I am using a very complex algorithm that we have identified, Tom. Did you have any comment, Sue?
Yes. Just in terms of full disclosure, to complete the Georgetown control of this whole conversation, it is that I did get my law degree from Georgetown. We now have all sides of the triangle there. We rule. On behalf of the Office for Civil Rights, I did want to thank at the IOM for their report and recommendations on how to improve privacy and security in the Research context. We do appreciate their efforts in struggling with the very difficult balancing act that we have dealt with in trying to design the HIPAA privacy Rules in terms of individual interest versus Mac societal interest and the needs for the data and the need of the individual for privacy and confidentiality. Really, exposing their data are being willing to share their data in the first place in order to get the treatment that they need and deserve and not wanting fear of secondary uses to interfere with their ability to get the care in the first place. I want to just say that's we have, since the beginning of the HIPAA privacy rule have endeavored to work with the research community in aligning the provisions and that we did make substantial realignment back in 2002, which did go to two of the areas that still showed up in the IOM report as needing further reconciliation. That is the accounting for disclosures as well as the simplification of how you can go about waiting the authorization requirements, largely for documents, access to information as opposed to clinical trial--plot so, I guess it in part, I would ask to what extent the report and the recommendations in those two areases really took into account the steps that were made back in 2002 and focused the practices and problems that might have continued to reside in as two areas as opposed to, simply, being a reaction to people's opinions back in 2000 when the rule was first issued?
I will start and the fur. First of all, in the interest of disclosure, I am also not faculty member of Georgetown. I was not going to disclose that--
[ LAUGHING ].
Secondly, I want to point out that we recognize the challenges of the OCR patients. The committee, they were of the strong opinion that, one, privacy and health Research are both private/public goods and neither one occurs adequately without the other. So, we really were trying to improve or enhance both in all of our recommendations. With regard to the specific comments, notice of disclosure and so on, we did hear from OCR. D fact, Christine was your helpful in our discussions. We were aware of the changes prior to the 2003 implementation. We also heard from the research community. They are still-there are barriers, not as much as there would have been had the changes not been made. They were getting in the way of achieving our goals of enhancing privacy. We did hear from organizations who, because they did not understand or correctly interpret, and they would not release records. Researchers had [ indiscernible ]. In our last meeting we also heard that the accounting for disclosure rules have a cut point of 50 records or something. There are many research projects, including eye one I recently had where we were getting two or three records from a hundred of physicians. Several physicians did not understand the rule and did not give us the records. So, I just want to-we did take those changes into account. There continue to be barriers and we think they can be improved upon.
Just following up on that, one of the issues, I understand, that will be of some importance moving ahead, especially when we look at some of these research programs that will use databases and the information that is there or can be gathered, particularly the newborn screening issue. That might be a database that is somewhat representative. Much of what we have right now as data is not truly representative of the diversity within this country perk of the groups that have been marginalized up to this point might have good reasons within their groups for suspicion of the benefits coming from any major research projects. It is still my understanding that in order to get their information into these research programses at in a way that will take into account their lack of representation, they actually need to be over represented in the research programs that go ahead. It seems that you have a potential issue there that could gridlock this system as we move ahead. Any thoughts on how to address that particular challenge?
I will start. We did some public surveys through the Paris public poll. The most vulnerable groups, those with AIDS, for example, those with mental health problems, those that had the most reason to be concerned about their privacy because of the potential for harm were the ones that were most likely to endorse releasing their data without prior consent to endorse participating in Research. Remember, this is not made public poll. That comes with it own problems. If you think about it, the numbers from our committee that were engaged with these, Mark, in particular, they said they had the most potential for gain. They are the people who are seeking our help the most. In fact, they were the ones that were making this important decision. I think that Andy had something to offer.
I really enjoyed your presentation and talking about the potential for the [ indiscernible ] studies with newborns. This capacity [ indiscernible ] when we look at the intervention studies versus database study plaits and being able to aggregate large sets of data without bias is an extremely important societal benefit. So, we were very cognizant of wanting to implore organizations to participate in that process. Right now there is not fear among organizations for collaborating because they worry about any disclosure that those researchers might produce, even if it is just the data-driven pieces. We are looking for some supportive guidance from HHS to help organizations that are locally based to more clearly understand and more clearly give permission to contribute for the societal good.
We did not assault the researchers, by the way, of their responsibility copper Co part of this, we also found out in our own land is that the public does not really understand researcher. In focus groups, we understood that people who often had participated in Research did not hear back probated not know what the results were. We make that recommendation that no matter which course is taken to improve on the privacy, that, in fact, researchers and others have the obligation to educate the public about the research processes and the results of the research.
I have [ indiscernible ], next.
Which the discussions of the committee, I do not know to what extent you consider different models [ indiscernible ] aggregation.--The other model which be small [ indiscernible ] databases where the database is controlled and identified locally but there can be distributed query is specific to a Research question or Project. You do not have aggregate data in one centralized place. --For these two Models and if one was better than the other.
Yes, there is an increasing ability to conduct research through these Federated data. And so, in the example of the HMO Research Network, the data never leaves the fire walls of those organizations. A query might be sent in from the outside and the analysis can be done inside with a large population and only the--Transferred to the researchers outside. That is an increasing capacity and very much encouraging in terms of protection and safety issues part of the second is that there are organizations that do not have that capacity. It takes quite a large effort to map and configure data that way. There has to be the ability to be doing both the Federated data, consolidation approach as well as working with organizations that do not have that capacity.
The only thing that I would add is one of the models that we discussed and included in our report is having a certification agent modeling fast as the Ontario privacy law that has qualified entities that can hold three identification key is. You can have that encryption key exist at the data level and also have a Federated query at party as a trusted agent or a authentication agent that can then do the same thing. I think the model certainly anticipated distributed datasets and having trusted agents through third parties who would, in some matter be certified--
Joseph?
I appreciate the presentation. I have a contingency question. This issue comes up a lot. I appreciate the position on how with more screening, the one thing that is there as an example is the question of follow-up. You talked about maintaining launching new databases but also talked about working with the public-it was was talked about--scientists reporting back to the population itself. Taken as a whole, the implications of doing that has lot to do with these long-term databases and the ability to refresh and go back and then back. For example if you have someone pick up on a newborn screening, you have to go back to them at some point. The question of is, you do a lot of work with them early on but then have to go back to them to be consent. --Were there any recommendations from a practical way on how you would do that? I have not heard a what about it for good it is a very tough problem. I was wondering with the recommendations that you have already made, that seems to be in line with what you were thinking about. I was wondering if there was anything concrete that came out of that? Do you understand what I am asking?
Let's take a little more simple case, First.
[ LAUGHING ].
That is an adult that can give consent. Here, the committee found a real discrepancy between what is in the privacy rule and what is in the common rule where people under the common rule can give consent to future research. There are some boundaries around that part of the committee did not get into the details about where to draw the line. In the privacy rule, you cannot do that. That is one area of harmonization. Now, we did not discuss, at all, the special issue of children and newborns. The model is more, I guess you can ascent children. I do not know at what age, what is the bottom rung there? That is, certainly, something that we will kick back to you all as a committee and others to have that important discussion. At some point that, I would imagine, there would be some discussion for need for consent.
Let me make a brief comment. We did not discuss it at all today but is important part of the National institutes of health has just funded a major newborn screening Research Network. The background is that when children are detected with air-conditioneds, North Dakota or South Carolina, right now, they are, basically, identified and their treatment has begun and they are out of the system. The plan with this would be to identify and follow these children in a systematic way all over the country so that you would have all of the children with some of air-conditioned and there would be plans to follow them and protocols. That one of the issues that have come up in a big way is the data system. The early thoughts would be that the data would be retained locally but there would be an infrastructure and working with CAD from the cancer institute. When we are back here and Steve is asking if we will go back, we will have the prospective data on these conditions and will know what happens and how they are treated. The translation Research Network will be an exciting new program. Again, the child will be detected. The parents will be asked. They will go back to the child. The state always go back to the infected person and says there is a program and protocol, which like to participate? They will be invited at that time to participate in follow-up.
Similar to the multi site--my other question might be even more difficult, he gave the example-I gave the example of and the whole spectrum for the young person from birth. When they are very young, their consent is given by the parents. Children at [ indiscernible ] can consent but they have to have consent by the parents. Be vulnerable adults, those that cannot sign for themselves, you can you get them sample from them and try to get a sample 20 years later and the person who signed for them is no longer there. That is a problem. That comment to me, those are real questions that are being asked. You spoke about the European model. I look a lot of what they have and I did not see that come up. I am wondering if that is something that will get kicked back to us or you would deal with?
The committee drew up a distinction, and I think is an important one between intervention and information-based research. Intervention are the kind of things that Rodney might have been referring to, which are things that the research subjects actually had something done to them, often in a randomized way but is some intervention that occurs. Our way, in America, looking at those types of research, it is consent part of the committee drew a distinction between that and information-based research. If you have a sample with a child and you know something else about them from their administrative Healthcare records over time, can a researcher access that information without ever needing to talk to or intervene with the research subjects? Even when they are an adult? We thought with the appropriate controls, as Larry outlined, that, in fact, we made the recommendation that that could occur with some boundaries.
IRB will respond?
IRB, all of the type of things we have been talking about.
David?
I really appreciate this discussion. I was interested in the HIPAA rules are national rules but the IRBs are locally controlled. Could you take a position on National IRBs, particularly related to rare diseases or you can do a study and to it in multiple places?
We did not go into that, specifically. We did want to see and did make the recommendation on the committees. We have to harmonize rules about local sites can have an easier way of interpreting things. Though this multiple sites IRB problem will not go away by the recommendations of this report, we think the better harmonization of rules so that local sides can interpret and examples, some templates, that IRBs can follow, would be very helpful. Right now, they are on their own.
We also made a recommendation that regardless of whether it was the new model of research being pulled out of the rule or changes to the rule itself, that IRBs be given some layer of identification and protection, liability protection. We saw from the research that came in there was vastly different interpretations of the privacy rule based on the constituency and the IRB and from one place to another that cause significant issues. We try to resolve that issue by getting better guidance, some best practices that might be ventilate of blessed or sanctioned that would give them freedom to operate by the HHS. The liability protection we thought was also a very important later to give them freedom and judgment and rely on their judgment with the circumstances.
Michael, Sue, any question or comment from your and? One last question then for all of you. Going ahead, this committee is going to continue to look at these issues, informed consent, privacy, discrimination and all of that. We have touched on some of the areas but you have mentioned that you did not focus on, childrens, newborns, adults do not give their own consent. Are there other areas that you would like to see this committee address From your perspective, the IOM report but also our sister committee. Just throw it open to you.
The committee's charge did not include recommendations about genetics. In fact, I am only speaking for myself. I think the issues raised here today, particularly with genetic integration, how the data is maintained and integrated with other protected health information and made available to the research community is going to be an important part of any deliberation and something we need to think about. We did not consider the genetics, because they are not part of the HIPAA privacy rule.
The thing that would be most helpful, I think, would be looking at informal mechanisms and informed consent. The whole background that surrounds that, as far as harmonization, a Central IRB, absolving the local IRBs of risk, although they might more readily do that, it will be very important. As Sylvia pointed out, even in the state of California, when you try to deal with multiple IRBs, it does not work. Absolving that will be an important way. I gather that the big issue with the central IRB is the fact that the local IRBs is still holding the bag. Basically, institutional protection, they are not willing to hear what a group of talking heads in Washington have to say. They have to deal with it back home. Solving that ending that in a legal weight is important for genetic studies in general and particular newborn screening where we are looking at 120 million genetic test a year.
Okay--
One other comment that the committee did make. It is the issue of transparency. Asa field, at genetics and the use of the data, together can be transparency of the discussion and the trust that has to come with the public. We need to engage the public and figure out a way to engage them in a way that has their support, communicate clearly about the intent of what we are doing and come up with the a community-supported approach to the privacy issue providing those discussions are extremely important in a new science area where we have tools that are dramatically different from the past that expose privacy and security issues beyond what we have had to deal with in the past.
My final comment is, not necessarily a recommendation on an area but the composition of the IOM committee that we have privacy advocates. We had patient advocates, people that suffered from chronic illness, public/private researchers. That constituency was incredibly powerful in sifting through the issues and making sure that all the voices were heard. I am sure you are taking those things into consideration when you work with this topic. Privacy and personalized medicine, it is an incredibly potent area.
Gentlemen, thank you, very much progress that has been wonderfully interesting and informative. I thank you for your participation.
[ APPLAUSE ].
Okay. So, I have my charge from the boss. He wants to know where you want to go next on these issues. As we heard, there are areas that were just mentioned, some of which we have begun to address in some of our earlier reports. Certainly, at public engagement is something that we have continued bringing up and the large population studies, the "genetic testing and screening. Also, the question of how well informed consent be read described, redefined? That does seem to be an area that is going to be rather morale did as we continue to go forward. When people feel it the best that we get more information on a particular, specific area? Do you still ready to become an a task force of focusing on something? Where are people leaving at this point that? Just so that you know, Charmaine has agreed to do everything and anything, as I mentioned to her that I would say on her behalf.
You know that you can never leave.
You never get to leave.
[ LAUGHING ].
That is what we need to hear. We have a lot of priority areas and this is one that was important and the things that we can do now, long-term and short-term.
Do we know, and maybe I missed it in the discussion, do we know what the plan the institute will do with their work? Obviously, with all of these people, with this Georgetown connection, there is not made certain institutional bias of information that we got.
[ LAUGHING ].
I suspect that the other institutions of law and ethics out there that might have slightly and then slide variances on the models.
There are others?
Yeah. I guess it before what I can say what I think should happen, I would like to know more about what is happening and how broad the range of difference of opinion is as.
Perhaps what is happening on the federal side and taking the IOM Reports.
I certainly cannot speak globally on that. I will say that it last week, the IOM didn't give the same report to the Secretary's Advisory Committee on human subjects of research for human research subjectses. I can never get that name right. So, that entity had made recommendations on privacy and the intersection of the HIPAA privacy rule and research in the past. I suspect that they will be looking at their prior recommendations in light of this new report and will be propounding additional recommendations to the Secretary based on that. Within OCR, itself, as was mentioned and you might otherwise know, we have a fairly full and ambitious regulatory agenda that has been handed to us, courtesy of the high-tech act, which will be occupying our time and resources for the next year to 18 months,ability terms of regulatory changes and studies. In many cases, there is good use and bad use at in that. No of the legislative changes, in fact, go to any of the recommendations made to research, at all. It was not really touched on in the high-tech Act. In addition to those mandated statutory changes, and I would throw GINA into that mandatory, statutory work that we are engaged in, there might be some synergy in terms of areas Light a study of deidentify, it it is one of the mandated areas that they might allow consideration, what that term might mean in a Research as well as healthcare setting. There might be other things in the way of accounting for disclosures, although, it is going and in a opposite direction from recommendations of the IOM, and that is broadening the area plaits of the accounting, rather than taking items off of the accounting. Authorizations and other things might be areas that we will have an opportunity to work on an in conjunction with our statutory it [ indiscernible ].
Thank you, Sue. David, go ahead.
Is the full report available?
Yes, it is.
It is? Okay.
Just so that the Secretary advisory committee-as they met last week and receive a similar briefing on the IOM report. They made then series of recommendations about the privacy rule, several years ago, that are still undergoing deliberation, consideration by the Department propose recommendations fairly well aligned with many of the recommendations, at least the general framework of the recommendations that the IOM made. The reenforce one another in terms of the issues and concerns raised. All of the recommendations are directed as the privacy rule and would require action by OCR--They mentioned today that they have concerns about the common rule and focus on a lack of harmony between the common rule and privacy rule. That has been obvious to many foreign a lot of years. When I pressed them on that comment it is still unclear to me if you did not have the privacy of rule and the common rule covered all research, what common and drug problems does the common rule pose to the research and Bob? I am unclear on that the purpose of the talked-about not wanting to have the department or government go forward with a prescriptive solution but new regulations regarding privacy--the current regulation, we believe they offer a lot of flexibility in this arena. There are number lot of research activities that are not covered by the regulations, it either with the way it does or does not include human subjects, is exempt or not exempt and is covered. There are procedures for waiting informed consent, which have always existed and I believe allow this research to go forward in the way proper. So, with that said, is still unclear to me-and also with regard to the provisions with privacy, there is one basic provision. That is, when the IRB reviews and approves the research, it must ensure that there are proper provisions to protect the privacy of the data collected. That is a fairly simple provision that gives the IRB and investigators great discretion--Under protection and control over stronger relieve. You can do that now over the remark of the current regulations.
[CAPTIONERS TRANSITIONING].
We wanted to defer decision, sounds like a fair bit is going on, not major ones, some specifically related to genetic issues, the electronic medical records, information sharing there. The question then becomes do we monitor this at the moment or form a little work group to sort of sort out whether there's something here we can actually begin to do that will help inform this discussion. That's what I would like to hear.
Joe?
Yes.
Thank you. I appreciate the information, because it sort of narrows the gap a little bit. My outstanding question would be in terms of direction to go, make interim contribution. I recommend looking at the question of, the last item, [indiscernible] population, and how is this working within those groups. Much of when is being discussed is general population issues. One of the things we have a charge for is also looking at whether it's discrimination, understanding, working with vulnerable populations and the permutations having to do with that. I guess I was hearing earlier, I don't know if there's a grant theory around the whole thing, seemed to me we can focus on just one area, maybe look at some of the other ones. This seems to be a reasonable one to put on the table given so much else is covered, just a recommendation.
[indiscernible] relevant --
That's a nice introduction.
So in response to your comment, Steve, it's for thank fortuitous -- I remember an article by Phil Riley, 15, 20 years ago. That seems to be a practical genetic issue which this committee, in conjunction with the act Rod is leading up, might actual an important issue, you can sequence the whole genome, what would that look like? Rules for that, if any? It's a nice non-biased population, it's broad, there's positives and negatives. Seems that's a really interesting specific issue which has been out there, doesn't seem to have been answered in policy yet. So we may actually have something useful to say.
Yeah, I guess the question there would be how much of that is going to be addressed by that NIH grant that went out for the translational work in the newborn screening, I don't know that yet. We could ask Rod or ACMG. The other would be taking that and saying in essence that too is a vulnerable population. Getting back to what Joe just said, depending on how we define, delineate vulnerability, that could be an issue that would be important to look at. That does raise, particularly, emphatic ways, some of these issues, you look more generically don't get highlighted strongly. Now for the elevator comment.
So, this goes out to what G, the secretary's advisory committee on health information technology, reporting to Secretary of HHS. To me it suggests, by my count that's four Secretary advisory committees, wherever the plurals fall in that, that have some piece of this pie. Is seems one tangible suggestion would be to create a formal liaison group between the different committees that can assess where there's overlap, then perhaps divvy up the work so we don't all do the same thing. It may be a better, might be good to have the responsibility, say we are going to charge SACGHS with this, the newborn group with this, the human subjects with this. It might be a possible way to move forward.
I agree, we [indiscernible] the issue, what we do longer term, something the committee is grappling with, naturally, in that sphere if we have something that can inform that, it would be good for us to know.
Would you have a concrete recommendation for next steps?
Why change now? No, I think the idea that could be run with now, I like what Mark said, surprisingly enough, but the idea of certainly coordinating with the other advisory committees is key. I don't know if the other committees have the same charge as we with regard to a group like vulnerable populations. That will be seemingly within our purview, depending on how that gets delineated, and maybe that's the next step, if there's going to be some information gathering, perhaps, in this area, the step between now and the next is how are you going to delineate vulnerability, what will that mean? As mentioned here, you have populations vulnerable because of particular medical conditions they have. Populations are vulnerable because of historical or socio economic situations, Native Americans or the poor. It's going to be important to figure out first how to delineate that, then see where you want to run with it.
We have vulnerable populations under -- the issue here is privacy, research, consent for those populations, the discreet sub-set. Look at that broadly in some other way -- Mark?
I was going to point out the common rule has provisions for vulnerable populations as well, it's consistent in that sense.
In terms of trying to make our work efficient, not necessarily transition into the next topic, but clearly one of the groups under education and training is a focus on educating the public. We have heard loud and clear we need to be engaged with the public, have some role there. Seems there could be overlap with what we will hear Barb in a couple minutes, regarding what that task force is up to, how we could add in, perhaps, a piece of that, and work together.
I am fine with that, I also think, I am hearing a lot of concrete suggestions, I don't think we are ready to talk about in a major way, to have, ask you, Kevin, maybe other folks, Charmaine, to come back in June with something more concrete, we can learn if there's interest in having this consortium, whether of the other agencies or committees.
I am not sure we are ready to proceed with those at the moment.
I would certainly be happy to come back tomorrow, but June, I don't know, I think I roll --
I would be happy to work with Charmaine, start with Joe, and --
Sure.
Following up, I would like to follow-up with relevant yet irrelevant, the idea of the other three Secretary's advisory committees, the vast amount of effort it takes to put together one of the reports we do. I wonder that perhaps the other committees don't feel like this her herk lean task, come together with something that benefits, looking at or our products. I am not sure what the best way is to do it --
We can put feelers out, have discussions before we do something, to see what the receptivity is to that.
I just speak up again, say it's a really important issue, active researcher, every day this issues' in the day of the research. In my work I have a compartment, isolated computers for clinical data, for genetic data, and difficulty in linking them. Another filing cabinet full of paper records which I can't look at between the people working in the space. This is multiplied by the multiple institutions, we have trouble coop rating with Canada because of our HIPAA regulations. It's just a mess. I think it's a very constructive thing they have done. I don't know what to do yet, we don't have the report, but at next meeting should talk about this substantially.
I won't be here, you can talk about whatever you want.
[Laughing]
Kevin?
I think we need to pull some of these discussion offline, Kevin, if we can get you in some of that, Charmaine is interested in some of that, get her up to speed. People need a chance to review the report, tie it to the other committees, vulnerable populations, data sharing, issues, there's plenty on the table, it's just what we can bite off that won't add to the noise and be constructive.
Okay, so we are going to move on, then, Barbara? Who has been leading the education task force is going to give an update, and I understand we have data, some data.
Yep, we do.
Barbara Burns McGrath: Today I am going to give an update on task force, I thought we were going to -- we have a little data, a lot of meetings we have no data, only ideas. Today you have tons of data, no big deal anymore. We are have half way through on this task force, I would say. Finishing data gathering, good time to see if anybody in the room has suggestions for whether you think we are heading in the right direction. We are not going to completely change directions, but we are happy for suggestions on new emphasis.
A little bit of background for the no members particularly, the education and training set high on the priority list of SACGHS since its inception. In 2004 there was a similar task force that rather than a large report they got away with a letter and series of recommendations to the secretary of HHS. Things have changed enough, decided to re-look, the issues merited forming another task force to look at this. We have been around for a couple of years.
In the meantime we had, Cathy switched, the staff person initially, and Cathy Camp now is the staff person assigned, there's been changes.
The whole committee talked about what the scope of the task force be. Like a lot of things with SACGHS, it's a hydra, so many ways to look at genetic education and training. We talked about K-12 education, about emerging groups that haven't been addressed, needs like laboratorians, hospital, speech pathologists. There's no end to the folks who might benefit in education and training.
We had a heart felt consensus, decided to limit to three groups, guided by the principle of point of care, limiting along those lines. We looked at, decided to focus on healthcare professionals, practitioners, their needs, public health providers, consumers patients. Underlying is a hope the report is recommendations to the Secretary of HHS, our report will be measurable, actionable, trying to focus on that angle, that they are actually under the purview of HHS, trying to keep what is the role of federal government in this area, focus on that, avoid getting too broad. Then we are hoping to have a forward-look beinglooking document, not current, but what might be coming down the pike.
Those three scope areas are formed into work groups, I will report the data on behalf of them, representatives of each group in the room.
The first is healthcare professional work groups led by Greg -- a nice group of people he works with. They are approaching their goal of trying to assess the needs and training needs of health professionals by using a survey based design. They are using two surveys, first is looking at professional organization, and they have done survey on that, the next is to use the same survey that was used in 2004 and try to compare some data with that. Before I go further, all of the groups, during review of literature of the areas, with the goal of not to replicate existing efforts, trying to move forward, rather than replicating other. Some of the results from those surveys, first with professional organization, they identified 57 of them in those categories, 29 were general professional, professional organizations like AMA, American Family Physician, some genetic specialty ones, devoted to special education, eye to certification and three advisory committees. The return rate is, today, 58%, but one survey came in today, this morning, we expect there might be more coming in. So it's likely to go up. The genetic specialty group, 100% response. Professional were pretty good, educational, pretty low response because probably -- well, just because, won't go into why. Just because they didn't want to.
Preliminary data, of those groups you saw, half of them have something dedicated to genetics, meaning half don't. The question, what do you identify as your organizational barrier to providing education to your constituents, those are the ones they identified.
This slide shows in broad relief the ones standing out, competing priorities. These are priorities the organization have for providing it. You can imagine what some of those might be. One thought we have is if there was increased clinical utility demonstrated for genetics and genetics testing, the numbers might go down a little and it would seem to rise as a priority issue, other reasons to explain that one.
Second survey is the one looking at federal activities, again trying to compare if anything changed since the report of 2004. This is a smaller sample, and for many reasons, we are only able to compare five of the agencies to that. The data analysis is just under that, don't have a lot to say, trying to see if there's a way to measure change over time with this.
Their next steps are to, of course, encourage the return of samples, do that comparative analysis, complete data analysis. Other goals, reports coming out, looking at education, training from federal groups, synthesize the reports to fit together nicely rather than duplicating, being disparate, talk about synthesis. Another goal is to articulate, have their report articulate the personalized medicine initiative, things that come out with that, make sense in terms of this report.
The second group is public public health group. Their approach is to start with the notion of competencies. They have had a Herculean task, various organization, starting with something like 100 working together to whittle down to a concrete set of 12 at this point, the core one. After that, with that, set of 12 that will inform the development of the survey to be administered to the right people to see if they are achieving competencies, and if yes, where did they get the education; if no, where do they wish they would.
There's an example of the kind of competence they are talking about, this is four of the 12. There are -- I will let you read them. Behaviors, opportunities to integrate, LC issues, and research, how to implement research. Clearly covering the whole public health arena. That part is finished, next is developing the survey, an online survey to be distributed.
The survey should go out soon, and data analysis of that.
The last group is consumer and patient work group, led by -- not here, in Africa, she will be here tomorrow, filling in for him. Their group, we are proud to add a new member, -- five interviews with professionals to get the overview, landscape of identified areas of genetic needs for patients and consumers. These are the original preliminary data, being analyzed, early thoughts, not surprising, consumers get information from providers, media. Interestingly, government does have a role in terms of guidance. Those interviewed people suggested the needs they see for consumers coming up the pike is understanding of multiple risk factors, important with the role of the environment.
Some discernment about the expertise among healthcare providers, who you go to for what sort of issues. Some tools to how to evaluate this, and that relates to that.
Some of the barriers that those professionals identified, advocacy groups identified for consumers was just a general poor health literacy, notion of determinism, fatalism, why learn when there's nothing you can do about it, and discrimination fear continuing. To turn this into a survey, the process happening now, and to distribute these to larger community based organization. The open is for about 100 of these, pretty good size for this kind of project. One thing talked about this morning, our group met before you were meeting with orientation, we talked about the challenges of addressing the issues identified by the general public. So far we are focusing on consumers, patients, people with some reason to be interested in genetics. The public has a different orientation to this. The challenge of who is the general public and how do you access attitudes from that, we don't have an answer, but will talk about that further. There's a desire to integrate that in with this report. I am hearing more things about int grating things about informed consent and research. We will talk about that.
Here's a scary slide, the timeline. We are working now collecting data, writing background. That will go on until summer. Our next step will be to develop some draft initial recommendations we will present to the whole committee at the June meeting. These are recommendations based on analysis of data I just presented. In that meeting we will come to some agreement about the draft recommendations that will go into draft of the report, which will be written over the summer, sent on the end of summer for reading. We will present that in the October meeting, go out for public comment over the holiday in November, and the final report is anticipate to be ready for publication, submission to the second, June, something like that, mid-2010. We are pretty much on track, but the heavy lifting is still yet to come, with the writing. I would like to stop talking and see if people think from that review we are on the right track, things you would like to add, minimize, I will defer to people in the group, this is definitely shared committee.
Thank you, Barbara. Any comments from the group?
I just think this is great work.
[Laughing] be [
I second it, way to go, data.
Any thoughts for this committee before we turn them loose again, I know they have been working hard.
We can take written comments too.
Good to see. It's hard to think we will break up early, people won't know what to do with themselves. We have had a productive day, the DTC work, challenges of privacy, informed consent, so the work was education committee. We will adjourn to return tomorrow, hear a little more from our colleagues. Then we will spend most of the day talking about the implications of genetics and health reform, particularly from the payers' perspective.
You want to say something?
Only about dinner.
Talk about dinner.
Everyone is going to dinner, 10 of us, be shuttled over there, not going to dinner, go on the shuttle, be brought back to the hotel. Leaving at 5:30.
Where is it going to be?
Outside.
Meet in the lobby at 5:30.
Thanks, everyone.
[event concluded]