Event ID: 1040448
Event Started: 7/7/2008 11:43:53 AM ET
Please stand by for real-time relay captioning.
hi, everyone, if you will find your way to a seat we will get started in just a minute.
Good afternoon. On behalf of Secretary Leavitt's healthcare initiative, we welcome you here to the Ronald Regan building and International Trade Center. Thank you for joining us on the consumer genomic information services, before we start the conversation I want to encourage you to en engage, use the microphone. This workshop is being broadcast via the Web and a good number of those joining remotely, submitting questions as well. Those will be picked up, if you are listening, visit the registration website you will be able to access the e-mail address ins necessary to submit questions.
I would like to turn now to Mr. Richard Campanelli, office of the Secretary, liaison to the Secretary's advisory committee here to offer the welcome -- policy adviser representing CDIC, research, quality, prior to service served nearly five years as director in the office of civil right, oversaw implementation of the HIPAA privacy rule and -- Rick has anniversary coming up this month, I recall reading last night. We are pleased he's had such a leading role helping facilitate many of the initiatives. He's been an important supporter and advocate, in setting the stage for this afternoon's workshop. Rick, I will hand it to you at this point.
Thank you, Greg, it's good to be with all of you, Rick has anniversary coming up, he said and I had this fearful thought I had forgotten a wedding anniversary. That's March, but -- add Mike cowan, I have never seen a group come together better, come to order, when he said -- quite impressive.
On behalf of Secretary Mike Leavitt a -- participating in, I know it will be a valuable time. All of us are enthusiastic about -- we are at HHS. The secretary is personally committed, priorities for coming here to be secretary, created the personalized healthcare initiative led by Dr. Greg Downing, to make sure the wheels at the federal level are moving forward at the department and elsewhere. Also, they are moving forward together, sometimes a great challenge. Along that mine, my thanks to Greg, who I had the good privileges of working with since taking on this portfolio, to see the good work he's done pulling together the various part and putting private partnerships together, moving toward a goal.
Dr. Scott Boyle did a lot of work putting this together. The secretary's charged this initiative with laying the groundwork at the federal level and in partnership with the private sector for a new kind of healthcare, truly individualized, personalized. We can all see the prospects, more effective medical therapies, earlier detention of disease, new powers of prediction and prevention of disease. We all want those things to happen, rightly, and are quite anxious, a bit impatient for them to come across. Each of us in this room from where we sit know we are blazing a new trail, partly why it's so exciting and we want to bring on that future as effectively as possible.
We are here to talk about an essential aspect, the needs and interests of consumers as this new realm of knowledge comes online. This intersection is fundamental for performance of personalized healthcare, consumer engagement and prevention it presents. We have seen traffic at this intersection has become quite accelerated and a lot of public awareness about it. That's going to continue, as it should. It's great that we are meeting today, the Secretary's advisory committee on -- SACGHS is meeting tomorrow to focus on many of these related issues. I am glad to see the members here.
As we stand here today at this intersection of consumer and genomic information, we are looking at several different highways, roads converging to this space where we are. The first one is genomic science. The beginning, starting point. We are all hearing about new genetic findings every week. New discoveries raise new questions, even as they provide new answers. Nothing about this field is standing still, no reason to think things are going to slow down anytime soon. That's a good thing. As we should expect in any new field, how we communicate about the developments, what people hear is going to make a huge difference in whether consumers, providers, payers, quickly, with confidence embrace the potential of genomics and personalized healthcare.
Is the second thing converging on us, highway converging are the new and rapidly evolving technologies being brought to bear in this area. That includes technologies nurtured by the human Jen om project itself, and modern information technologies, including both the rapid movement and exchange of information we now take for granted on the web, as well as new information sharing and new powers of inform attics. Unlike many advances in the past they are not just putting information in the hands of researchers, not just specialists, it's all of us, that makes us ask new questions that are changing all the time to better understand how the end users will be able to use that information to its highest benefit in improving their benefit and public 24E8G9 healthcare.
This brings us to the third converging highway, increased engagement of consumers themselves. In almost every field web savvy consumers are not being shown how to wait, they are leading the change that could only be imagined a decade ago.
This weekend I was seeing my mom in New Jersey, she's one, don't tell her I told you, she thinks that's what the HIPAA privacy rule is about. She's 81, her mom, my grandmother was a classic Italian lady from the old country. When you said to her, what's the recipe for any given dish, she would say, well, how much of the particular ingredient, how much bred crumbs should I put in, the answer to every question was this much. Would cup her hand, the question to everything. She knew, you would have to be around her to get the information.
This weekend an interesting thing happened. I asked my mom for one of her recipes and my mom said, well, you know, it's easier, go on the web, a lot of great recipes available. I thought this is a sea change. Of course, we talked this weekend about looking to the web, making choices about healthcare, drug benefit, so many things are changing and my 81 year old mom, not a great fan of technology, but knows about it and excited about it. She's read up on possibilities for genomic health and asks questions, wonders where it's going, what it means. It's interesting we are having that conversation. That's a really good thing.
In healthcare we are encouraging consumers to take a more active role in their care, based in large part on the information they can access to make better healthcare choices. As that happens, all of us in this space owe them the ability to make the best choices they can there before them.
We all stand together at this busy intersection of genomics and healthcare today where the roads converge. Genomic health, new technologies being brought to bear in applying science, new opportunities and access to consumers who can take an active role in their own healthcare. A busy intersection. We need to find ways to move the traffic effectively and safely. We should expect these challenges. I was the director of the office of civil rights when the HIPAA privacy rule rolled out. There were two goals we talked about in that contax, striking me as similar here, competing goals smdz we talked about. The goal of protecting health information, essential goal, at the same time a goal of making sure the information could still be both accessed and shared by individuals so that the information would be helpful to them. We didn't want to -- wanted to protect privacy, do it in a way that wouldn't impede says impede access to healthcare. We recognize, you do, we needed to accomplish both of those goals. It's similar in some ways to the issues we are thinking about now, where we have much more information and will have more information available to all of us, especially consumers.
In the personalized healthcare environment we want to provide access, help people be able to be good consumers of healthcare, understand how they can improve their lives in so many different ways, and do it in a way that's accurate, rightly communicated and understood. These are challenges, but there is great potential in the improvement in individualized and public health that can occur if we accomplish both of those purposes.
We are work nothing ing in different areas, but -- a few words about the -- catchy title, understanding the needs of consumers in the use of genome-based healthcare information. Our purpose is to look at the ways the information will help consumers and ask the question of what the opportunities are for consumers, what are the cautions that need to be exercised, the tools, the different role and how can we work together.
I want to keep our sights set on the future. We are only a few years out from completion of the human genome project, science is and technology developed as a result of that project is being made available, but we are just at the beginning of the beginning. Among those represented today are some already providing those services directly to consumers. Thank you for coming. We want to learn what we can to learn from your experience thus far. We want to learn from everyone in this room today to be better at thinking, forward-thinking in this arena. Science and technology in this space continue to evolve rapidly. We can ask ourselves what will be available to consumers, what ways, conditions to achieve better health and what can we do to achieve the best possible outcomes as new capability and opportunities come online. That's the basic question for us today.
In this area, where cog consumers need information, what can we do now to make a better future. We have a half day, that's a tall order. Mike is an add mirral and -- Eric Topol, will lead with a few of what's happening now, what to expect in the fight you are. Steve Bodhaine from the Yankelovich -- three panels, Q&A opportunities after each and will wind up with a discussion moderated by Mike Cowan. Let me thank you all again for coming today, secretary, and the department share with you a strong interest, entire to see the day when consumers can conphi defnt dentally relay on technological advances for preventive there therapies and so much more.
Thank you very much.
APPLAUSE.
This is an exciting afternoon. Again, thank you for being here. My role today will be kind of the traffic cop. Those of you who, everybody looked at the schedule. We have exciting speakers, panels, credentials of people who have come here represent the entire professional spectrum of people interested in this topic and 20 or more people have joined us virtually. Lots of ramifications, lots of people with passionate interest. Greg Downey, Dr. Downey is the director of the personalized healthcare initiative, the leader of the effort, working to put this together.
I will try to keep us on track. We have all been to conferences and know there are riffs on the theme we can take, and we will. I will talk more about the ground rules in a moment. I would like us to get started in the meat of things after a couple of quick announcements. There are bathrooms close to us, but they are not for us. They are under restoration, so restrooms are down the hall, down the elevators, bottom of the elevators, take a left and they are tucked up under the elevators.
If you have cell phones, have not turned them off or put them on -- would you do so? And I think that's all of the housekeeping we feed right now. Two exciting keynote talks to get our thinking juices flowing, then a first panel, break, then two following panels. I introduce Eric Topol, Scripps Institute, he asked me to shorten it up. He's the dean of the Scripps School of Medicine, anybody know a graduate? Nobody graduated there yet, new medical school, putting together with the future of genomics being an integral part of medicine, a very exciting project. Eric, please.
APPLAUSE.
Thank you very much, Mike, I am so glad to be here, along with Rick, Greg, the other organizers, Scott Boyle. It's an exciting time in medicine, I don't know if there's ever been a point like this we can say, where so much is happening so quickly. I will first get into blain what's happening in this space, to get us on the same page, how truly, as Rick mentioned, on a weekly basis this field is changing.
It wasn't but eight years ago, not far from here, at the White House, when the big announcement about the code of human life is cracked. It's been really eight years, June 26 of 2000 before we finally have seen what is termed by science the break through of the year, for 2007, and the break through for the next few years because so much is happening so quickly in this space.
The two major reasons for this, most people here know, ultra high throughput geno typing became possible. In 1997 we could only -- one pair at a time, 256, at a million or more SNPs that can be assessed. The other major thing is that the genome, relatively -- the base pairs in the diploid dip genome, international HapMap, being able to tag, having only 250 are,000 to 500,000 being able to represent a window to the genome. These two things, convergence of technology and breaking down of genome into information bins allowed a remarkable state in advancement of human genomic knowledge. Unlike any other field in science, biomedical research, where there's a hypothesis, the result has been a genomics golds rush, hasn't stopped since a year ago. I want to briefly give you a table showing on a weekly basis since April 2007, almost 40 disease z have been approached, the high throughput SNP typing and haplotype mapping information. All different discipline ins medicine, cancer, metabolic diseases, obesity, Crohn's, cardiovascular, this list goes on. Even restless leg syndrome until the gene markers showed up. Gallstone disease, macular degeneration, virtually all the major cancers. To take us up to date as of today, Nature had a third gene for obesity. This avalanche of new knowledge sets a template never replicated in the last several decades in just a year and a half time because of the breakthroughs.
An example to hopefully demonstrate there's actionable -- macular degeneration, effecting 9 million Americans, the leading cause of blindness in our society. We had no idea of the path owe jefn sis of this disease, we knew on the Mac U la there was a material led to eventual blindness. Knew there was a series of environmental factors, like smoking, high-fat diet, sedent tear life sile, obesity, correlated to macular degeneration. Now we know the principle genes, complement factors that are the underpinning of the disease, the pathway to be the root cause of macular degeneration. Why is this important? Now we can take a baby, say that individual has zero percent of ever developing macular degeneration or find they have a 400 fold, if that individual with a high risk smokes, that risk could go to 10,000 fold. Indeed the environmental gene interactions have been accessed in this condition, the first study back in 2005, the most knowledge about those important interactions. Today we can give people with risk variance a choice. If they smoke, for example, they have a much higher risk of going to blindness, where the cessation of smoking is an important actionable item.
The chromosome 9 P 21 marker is particularly important in the cardiovascular arena, these are all events very hard to predict. When do arteries crack or rupture, such as occurred in the case of Tim Russ eater just weeks ago. This is a -- 70%, 35, 40% increase, to a doubling of risk, many conditions difficult to diagnose. What about diabetes, over 20 million Americans having diagnosed diabetes, many more not yet diagnosed. We have over 20 genomic markers, bins in the genome that correlate, 20 to 30 to 40% risk increase. In many cases the additive, work done to integrate the risk of different markers, from two-told to 20-fold on the basis of additive phenomenon 26 different genomic markers.
Breast cancer, the guideline all women over the age of 40 need a mammogram, is that really necessary when -- we can assess, partition the risk, whether women will have breast cancer, in the journal modeled on this, talked about the population at risk when we look at the rudimentary markers.
Same for prostate cancer, five different markers in prostate cancer, in an additive way, published earlier this year, one can find a population of men with a 10-fold risk of pros prostate cancer. We have 20 different markers in the genome for prostate, our knowledge base greatly expanded.
Basically what is so remarkable about this time in medicine, understanding has been enhanced like know others, new genes, pathways that are the underpinnings of disease. The human disease -- the fact we know certain pathways are responsible for multiple diseases, which we would never have forecasted, none of these pathways were the ones theorized before genome-wide studies were performed. This is remarkable in itself. As reviewed in the Science Times, the text books of medicine are being rewritten. The problem is they can't be re-written fast enough, our whole appreciation of disease z and health is being turned over because of this vast avalanche of information. I don't want to submit we know so much, a lot of invent truths, haven't focused on insertion, deletion, copy numbers, many regulatory elements, the case for E pi genomics, but we are in the consumer E ra, consumer empowerment. In an interest Forbes list -- you are going to end up searching for genes on Google. I thought he was ahead of his time. Wasn't long, I started think being this whole SNP variance, [indiscernible], so many different articles focused on this, the feature article in Wired, and those in the New York Times that were associated with a Pulitzer Prize, offering genome-wide -- cheek swabs, up to a -- browser set up at cost for some consumers that is affordable. DNA direct is involved, special tests like the TCL -- 921 marker for heart attack, interpreting genome-wide stand.
There's been a reaction in the medical community that we're not ready for this. There have been several articles, Risky Business, residence or not in Nature, letting the genome out of the bottle. Representative of the naysayers, I tend to disagree some of these editorialists. I have had my genome scanned through two of these entities and I learned a lot. I present to you, for example, I had no risk factors in my family of heart attack, an area I worked on. I knew I had a risk of cancer. When I got the scan I found I had two copies of 9 TT 1, an important knowledge for me, to know I was protected from other diseases like obesity and immune d iseases. The ability to interpret the data by these companies is quite remarkable. They offer a terrific information for those not savvy to understand what this means, it's probablyistic, not deterministic and many things are wanting in the knowledge basis. To help me interpret, what is having two copies of 9 P2 1, really mean, very graphic and simple and all of the companies in this space are remarkably consumer oriented. When I put this together at the end of last year, what you can learn from a gene scan, I thought this is a great movement, will help the physician community, so reluctant to any change. The concern is patients now are coming to their doctors office to get help in interpreting the genomic data and the doctor says "whootsz a " what's a SNP?" who do you trust with are genomic data, you don't trust your employer, health insurer. They trust the most their doctor, who has very little, if not any knowledge of this fields. Trusting their doctor more than their spouse and even researchers studying genetics.
In California, where I am from, the recent cease and desist -- oriented and advocating the rights of consumers this sense of Department of Public Health in California, we are no longer tolerating direct to consumer genetic test nothing California, is so amazing to me. As I close I want to leave you with examples of actionable information. Why so important today for those interested. The risk of diabetes ear heart attack, to know that, awareness of symptoms that being be representing heart attack or heart disease is quite important. No less the change in life sile style. The use of MRI in women with significant increase in genomic markers for breast cancer. Like Crohn's, A trial fibrillation, all of these come out of -- the benefit to consumers is quite extraordinary, it's research grade data, the same platform, the same ways data was obtained published in leading peer review journals. It's optional, a right to know, and potential benefits in those individuals who use the information in a guided way. The sad part is physicians are uninformed, resistant to change, but hopefully can be prodded with respect to learning more; motivated to learn about genomic medicine.
I leave you with this representation of where I think the field has been and where it's going. You can see the hockey stick [indiscernible], alluded to by Rick, there was the human sequence in 2000, many people, including the public, disenchanted that it's taken eight years for the studys to effect the practice of medicine, prevention, preempt, the ability to sequence the human genome, whole sequencing, in 15 minutes will be possible, soon enough over the next eight-year span we will have a million people fully sequenced and some aspects of medicine will be routine. We set up a new medical school, scrips school of medicine, five year curriculum, deep exposure to sequencing, geno typing, and hopefully will be a group of physician leaders in the future to advance this field that needs leadership in the years ahead. I wanted to thank my colleagues at our program who have worked together to try to have a unique program using the information of genomics today to advance the field of medicine and hopefully this conference will achieve that laudable goal as well. Thank you very much for your attention.
APPLAUSE.
We did not rehearse Eric and Rick's comments, they said many comparable things. We will get the visual images, clarifying picture of the complexifying field that's very early within its development. Our next key-noter is Steve Bodhaine. He's the group president for research and product development at Yankelovich. This is an organization around since 1958, specializing in collecting and understanding consumer beliefs, aspirations. He will share insights on consumer interest in health and genomic information. Steve?
Steve Bodhaine: I would like to find out what kind of enthusiasm gene Dr. Topole has for this topic. My purpose is to help you understand the voices of the consumer and the plurality of that statement. There is no such thing as "the consumer" when it comes to health. As exciting it is for the science of health, I think this is a new day in consumer health, and we hope to share in a few minuteses a brief snapshot of who the consumer is, and the -- I have the ability to deliver a one-hour presentation 25 minutes, meaning I will speak faster and faster, as Tina -- this will be fast.
Let's break into this. At Yankelovich we have been engaged in health, understanding consumer health for some time. I put this up to give you a sense that this is not just coming from our back pocket, we really spent a lot of time and energy to understand where the consumer's heart and mind is relative to health. We are careful about the terminology we use, words like healthcare and health mean different things to the consumer. Wellness and well-being. We have to be careful, the consumer will react in a different way. Please note I refer to consumer, not patient. The day of patient is gone. It's the day of the health collaborator. We are tracking this on a continuous basis, want to make sure you leave her today with a better insight of who the people are, what's driving their behavior. I will touch on a few key things. Several different voices that exist in the marketplace, when it comes to consumer health we will dive into a little bit of research we did around personalized medicine, consumer level of interest, understanding, engagement with genomic medicine and then get down to where the role of physician might be in the future.
The key thing to emphasize is that relevance is critical. We live in a day when we are way beyond clutter in the marketplace. Clutter, I will speak loud, more frequently. Essentially just adds more clutter to the marketplace. The consumer is actively involved in -- shelght noter yows for filling the airwaves with lousy information from a consumer point of view. I spoke at a conference where one of my esteemed colleagues got up pointing the finner... Software freeze ...
Seeing that happen in a very real way. Relevance today, voice of the consumer, study in 2007, in 17 countries with tens of thousands of consumers, looking for a way to take a heterogenous population, in a bucket to understand how to engage the consumer in health and healthcare. Let me share six segments of the population.
Segment one is a group called leading the way. This is a group of people who get it. They organize their whole life around health. They may have chronic conditions, but they have a normal BMI, exercise on a regular basis, information seekers, get screenings as they should, these people organize their life around health. Maybe you know one of these people. There are not very many of them in our country. In fact, they comprise about 10% of the population. They tend to be a little older. The key thing is they have an internal locust of control, and a future orientation. The reason you would want genomic testing would be to help you avoid the future risk of disease. That would work for this group.
Group two is what we call "in it for fun." , healthy, not because health matters, but because they enjoy the competition, have good healthy behaviors, but not a strong health mindset and orientation. Delivering a messaging of health risk isn't terribly important, talk to them in terms of what it means to social life, compete, be in the marketplace. This group is good, we like them, but they are not going to resonate with health messages per say.
The third group is value independence, fun group, the do-it-yourselfers, they are so tired of science, medicine creating confusion in their life, they decided they could do it on their own. Create a diet club, mix and match, but continue to gain weight, not successful with the do-it-yourself technology, challenges for them and family. They don't trust the voice of physician. They think medicine and science are overrated. This is a group turning more and more to alternative medicine, looking across the pond for other remedies, more positive for them than traditional medicine. Interesting group, hard to reach, don't hear your voice, will pay attention to alternative information, bloggers .
The next group, the heart and mind knows what to do, but body will not obey. Start a diet, stop a diet, begin to exercise, stop exercising. They need structure. They have a very extra locust of control. They need the healthcare professional to intervene, help me get with the plan, stick with it for success. They spend a lot of money on health, well-informed, but are looking for partners to help them start and finish something successfully over time. We like these people a lot, because they are willing to engage, but they don't needs one more piece of information, they needs help in applying information in their life.
The next group is "not right now." we reper to re refer to them as disinterested, disease happens to somebody else, invincible, not interested in health information at all. In the food world we get all excited about healthy food, we get in line for the 900-calorie burger. Aunt Sally, 97 years old, started smoking when 3, drinks like crazy, but still orniery, full of vigor. Simply not listening to health information. Potentially a train wreck in the future, gaining weight, involved in unhealthy ventures.
The next group, get through the day, afflicted with poor health the majority of their life, nothing they tried produced a meaningful result, frustrated, basically resigned to poor health for the rest of their life. Unfortunately, can be a very expensive consumer, many chronic conditions, present themselves in the most expensive venues. We understand this group will never get anywhere on their own. Self-help tools will be unsuccessful, very dependent on professionals to experience any kind of benefit.
I throw the six out quickly. We have a ton of data behind each of them. 40 chronic conditions, weight management, stress management, as we look at people to understand how, where, why, they engage or disengage in the health debate. I want you to take away that one message will not fit all, nor will one solution.
We have been measuring the last four or five years the evolving health mindset. What you need to be aware of, probably already very aware, health today is a holistic view, mental, emotional spiritual and fizzical 23EUZical. We ask people to tell us how many chronic disease z they suffer from. People with more than three chronic diseases are listing overall health -- they have a positive outlook on life, sense of purpose, because they have people who love them.
You need to -- get more sleep, when we ask the most important thing to maintain health and wellness in the year to come, number one on the list, make sure I have good insurance. Behind that, good hygiene, personal cleanliness, washing hands for. Exercise doesn't make the top 10. The diet barely cracked the top 10 this year. Number 12 in 2005.
The physical reality is not nearly as important as the mental, E moshingsal and spiritual -- we have to get to the context of that or we will not cut through the clutter or resist else in the marketplace. Keep that in mind. I am not a patient, by the way, I am not a disease. Refuse to be defined that way. I am Steve, and by the way, I have thing that's interfere with what I am trying to accomplish in my life. If you can help with that, great. It is a holistic view, we know that even those individuals who are mentally, E moshingsally and spiritually engaged, the physical factor, will disrupt, trump the other measures.
Home is becoming the center of health. We are living in the world of the baby boomer, maybe you know one, they may be seated next to you. They are kind, nice, be gentle with them. We know about boomers that we will never grow old. We refuse. We are redefining retirement, redefining age, and we are absolutely confident we will never need to go into long-term care. In had fact we don't want to, we have been there and don't like how it smells, don't envision ourselves in that environment. We are seeing more and more the home is becoming the -- I started a hospice company. Before World War II people would pass away in their own home, and since that, medicine changed. I think it's going to reevolve. The home is going to become where much of health is actually delivered. We are watching that carefully. One reason is we live in a world of multi-generational caregiver. Perhaps you know them too, they tend to be female, caring for an aging parent, may have ailing spouse, children, they have their hands full. The market is reckize recognizing that, coming to her aid and, good cost custodians, keep in mind the home is going to be the center, more healthcare delivered in the home. The whole rise in in-home diagnostics is very impressive and will continue because one, it caters to the fundamental need of convenience, important in the mind of the consumer. The idea of diagnose me, in a very cynical world, which we trained the consumer to live in, we can trust ourselves as much as anybody else. I want to get a first-hand glimpse of my own [indiscernible] showing where the consumer is going for health information and why they are going there. There's a mass of generational differential of the mature generation, still as a Marcus Wellby generation, given how well some of the younger generation takes care of themselves, we should --
If I could submit one thing, we don't needs another website with health information, we can find cancer information on 200 million websites, it's enormous, the consumer wants a drink of water, we turn on the fire hydrant, makes it virtually impossible what is truth, what is fiction. The consumer needs accurate information delivered through a credible source. I need the tools that help me interpret the information in a personally relevant fashion, give me the power to do something with it. Not a BMI calculator. Ever play with that? Two honest people in the group. You find out you are not in the normal range. You grow, you were 63, now you are 6-4, the consumer needs tools that empower them to take action and monitor. The competent healthcare professional to help us monitor and we get the progress we are seeking, personal health accountability, a term not introduced, but coming quickly. We are tired of waiting for the federal government to create change, the employers are engaged to engage consumers to change imaifer and holding them accountable. The N stage is the individual themselves, the employers will look for ways to lessen the liability of healthcare. New ways to invent who we are, what we are about, interesting medical information, I have had my 10-minute warning.
We are going online to research specific diseases. We want to diagnose the symptoms I have. A scary thing, but we are finding disease z we never had before. Specifically some of the research we did around consumer and genomic medicine, we did qualitative information, we find when we talk about genomics the consumer has some degree of familiarity, but very limited understanding. Familiarity with genetic testing is pretty limited. We find that we know a little about what it is, but we don't necessarily know how it will be used and how we can apply it to our own health and wellness. We are not aware there are companies actually doing this. We think it's being done by other people, other institutions, don't have a clue about the cost. Again, early indication, those of you living in the space, more sense of research, we know this is the beginning days for genetic testing, consumers are interested, curiosity piqued, but they don't -- give a lot of answers, procedures to find out the make-up of I person. To determine various things, health concerns. They can articulate the surface, but don't know how to use it.
Who is it for? Well, everyone, some say. Children, parents, grand parents, people overweight, a whole range of potential users of this information. Why do they get it? Some think it's a preventive measure, some want to know how much time you have. A morbid thought, but would they use time differently. We ask where they go to have it done, some will go to doctor's office, hospital, university hospital, specialists, overseas. And some to an approved facility. Not too many people are going to a DNA lab or thinking about a remote fashion. Interested, but admit to being a bit skeptical. I don't know, if I got a negative result back, probably still go talk to a physician anyway, to be sure. We are saying that I would be interested in considering this, if I have an increased element of risk they want to know more about the information. The big biggest concern is about accuracy. How do I know it's me you are talking about, if I don't agree with the results. Not concerned about privacy, they assume that's a given and expect to you take good care of that information. They are skeptical about getting something that doesn't come directly from a physician. Again, we talked earlier, the physician is my most trusted source of -- may be a misplaced sense of trust, but the law of proximity is very much alive, will trust the individual close evaluate e st closest to them.
We hope it will give us a better understanding of my risk for disease and provide a blueprint for preventive action for the future avoidance of -- I am worried that I won't be able to understand what comes back to me. I don't know that I will be free from any kind of discrimination if others find out I may be predisposed to a certain kind of condition. The hopes are there, challenges are there, but they don't weigh heavy in the mind of the consumer. As much as my doctors say, the doctor's voice is important, but the generation is turning more and more to the web. Consumers today are looking more and more to the blog for a sympathetic ear, trusting people in the social network as much if not more than physician. They are looking for affirmation around a new type of medical device or drug, or intervention, based on what other people in the market who are like them have to say, even if they have never met them before. We are finding there's a market, consumers are very interested, excited about the project, but there's a great unknown, a lot of learning to be had to take advantage of genetic testing. The key is give me the tools to interpret the information, take appropriate action. Not everyone is going to jump on this, take advantage. We have to recognize that, make sure we are targeting our efforts to communicate in the process going forward. We have a lot more to say about the consumer, but we will turn it back.
APPLAUSE.
I did not know you could talk that fast, your mouth is on fire. Thank you very much.
Those are our three presentations, I think you noticed the same thing, a great deal of convergence between the three. Sometimes when speakers get up, say much or so much of the same thing from their different perspectives, it can seem redundant, but I would counter some things are worth redid you dunding. That -- would the panels come up, and --
I hope we have set a perception, I would be surprised if many of you would not give the same points of view, you are all professionals in the field. There's going to be a different role of the consumer going forward in this particular aspect of medicine, others too, but certainly this one. There's going to have to be a different professional approach to genomics-based medicine than in our traditional past.
I hope you have a feeling that we are early in the game, and that we are going to try to spend the rest of our time looking through the eyes of the consumer.
We will consider this success, Greg and his team planning this, consider the degree of success the richness of the conversation we have. This is not just occupational therapy for us to while away an afternoon. The history books of the Manhattan project has just come out, enough time gone by, historians asked the scientists, you invented a whole new field of science, then practical applications, built those, made them work. You did all that in about 18 months, how in the world did you do that? They universally came back to the historians, said it was the discussion, dialogue, conversation. This I don't think is too much of a stretch to make an analogy to the Manhattan Project. It's a huge sea change in medicine we are at the verge of, and you are the ones who will create it. You are the ones who will have the discussions, dialogues. The scientists who say we have a problem, didn't know what it meant, have discussions, and there would be a solution. It was all in the dialogue, nobody knew where it came from. We will go on to the panels now, so I want to set the rules.
That's the expectation, that you are engaged and we have a conversation. The rules are, one, no hitting, pesky rule. No more than ins. Second, please participate. When you have a question, we have microphones that I don't see, but we will. Raise your hand, we will get a microphone to you, it's being recorded. We want to keep this, save it. Get a microphone, tell us who you are, who you work for, then ask the question. I will help moderate the questions, or feel free to ask a particular panelist or the panel head.
Please be consize for the sake of time, we are doing okay, but try to keep it -- here's my job. That's a parking lot. This room is fum of passionate people with strong feels, everything is important, we want to capture everything, but we cannot take the discussions down every lane. I will be very arbitrary, cay capricious, if we are going off on a tangent, whatever reason, we will put things in parking lots, so we don't lose it, we are early in the process. We are early in the development of this branch of science and medicine, and so nothing will be lost. Any questions about the rules of engagement? What we are trying to do? Are we good?
I see no dissent. This panel, I heard something -- [indiscernible] not yet, soon.
The first panel is looking at consumer interest. Esther Dyson has been reporting on -- I started to say -- she knows her genome was sequenced, published as one of 10 volunteers, both a personal and professional interest in this, ease ease there ease there will r will introduce others, it's all yours.
Esther Dyson: Good afternoon. I am not going to give a long talk, but I am going to stand up here so I can keep orders. I want to keep orders not just for the panel, but for everybody. I would like this to be -- I knew you were not representative, but how many of you have had your genome sequenced in some form or another. How many of you would do it if it were free?
How many would never do it?
Okay. If anybody changes their mind during the course of the panel, let us know, that would be interesting. What we are doing here today is having three panels. Ours is pretty much what the consumers want. The second panel is what the consumers are getting and the third is what the consumers are going to get. We are trying not to step on each other's toes too much. Any panel can talk about any of these things. I will have the panelists introduce themselves, you can read the bios. You can spend three or four minutes, I will ask follow-up questions, talk among ourselves, then ask for audience questions. You can ask at any time if you can't restrain yourself, as Michael said, the value comes from the dialogue. We will start with Rebecca Fisher, what has been missing in many discussions, the voice of the consumer. And Matthew Holt, and Lindh Linda Avey, and I will be especially vicious.
Rebecca?
I don't remember what I gave to you for the bio, I will say I am a 47 year old breast cancer survivor, BRCA 1 positive, diagnosed at age 31 in the early 90s. My two points today are meant to temper the rhetoric about the excitement about all we are learning, which is not to say I think it's a bad thing. I think it's a wonderful thing, but I see the naysayers, one present or spoke about, as being more ' proceed with caution sayers. '. I think I agree with them. Most consumers are not familiar with the method or vernacular with genetic testing. The methods and clinical utility, validity, even the reagents are words that belong to something very foreign to most people. I am a medical librarian by training, most of the terms come with difficulty, but I can figure out what they mean, and can figure out where to find out more about what they mean. In this emerging world of genomic information there's a real gap between the information someone can download and the information someone actually needs to use to make valid decisions about his or her health. When my family became involved, there was no BACR won, that was discovered in 94. My family entered a research program at University of Michigan, later University of both sisters were involved in the research and couldn't wait for the research to be returned. As a result of their impatience, seeing me go through bilateral mastectomies, radiation -- they went ahead and had prophylactic mastectomies, both of them. The information came back, our BRCA one was on an intron, very odd, not found in the research setting, so not all research methods are the same, which was news to us, but they were testing our mRNA, not genomic DNA. Most consumers don't get that difference. Sisters are still a tiny bit upset they don't have breasts, and I don't blame them. The second issue I will talk about, I know Esther wants to move us on, a friend who is a banker. She's a very bright, Able woman, 49 years old, recently diagnosed with breast cancer, stage one, didn't get margins, what do you want to do, more surgery? Another lump ekt eke the omy, we had a conversation at which I was able to tell her about the RCA 1, hadn't heard about it, didn't realize it might be a risk factor, what's your family history I asked? Well, my sister had a gli owe blast only A when 18, my brother lymphoma when 22. Did you tell your doctor?
Yes, he just move odded moved on. There's a gap between what someone can download, finds on gene reviews or the new collaborations coming up, there's no person standing at the point of decision for that patient. The only person is going to be their genetic counselor, maybe a medical librarian, or God love them, a physician who took the time to learn this is a subtle and nuanced world, and we should proceed with caution. We have no deadline. Those are my comments for you.
Thanks.
APPLAUSE.
Those are compelling stories, but the message I actually get from them has very little to do with direct to consumer genetic testing, probably more with the overall level of knowledge, not just among consumers, but doctors and other people. So what would your constructive advice to the room be about how to solve some of these problems.
I disagree it doesn't have to do with it, no matter how you get the information, direct to consumer or through a research setting like we did, or your physician, you are going to have information. What concerns me is the commodityization of human life, concerns we greatly. When a kit comes in the mail for you to turn in a -- there's no human beings there, we have people on call whatever, that person is not going to be equipped, if your own doctor is not equipped. I have major concerns. I side with the "proceed with caution" sayers.
How do you get the doctor equipped?
A lot of them get information -- [indiscernible] knows as well as I, at Georgetown Universe School of Medicine, in the cafeteria, that's where they get information, something a medical librarian will rip her hair out over, but that is the reality.
We will definitely come back to that.
Matthew?
Matthew Holt. I run the healthcare blog, [indiscernible] consumer genomics in California, not a blond female, major requirement. People are going online to the web to get information because they want action and results out of what -- information to get them to do something. My major concern about direct to consumer genetic testing is it doesn't give you something you can do out of it, it's a question that will evolve. We have talked about what's coming, but why the point, doctors to adopt the new information technologies and deliver in ho human humane fashion -- [indiscernible] two other things worth saying quickly. A lot of fuss about privacy, genomics in particular, the impact of disclosure of information, unfortunately we live in a society where information, involuntary disclosing, forced to disclose can dramatically impact your life. If you say -- you will pay more for insurance or not be able to get it, out in the open, irrelevant to the current discussion. We either fix that first and worry about genomics and privacy second.
There's a lot of talk in California, New York about the impact of should consumers be able to go out, order tests directly. Talking out of both sides of my mouth, a good trained markettist, socialism, social insurance, I believe in what's cost-effective and what's not. I don't think there should be a blank check, but what's briewf proved effective -- I believe in insurance, I don't believe whether it's clear -- I hope the work Eric and others do will figure that out. Having said that, I don't believe in -- protection. If you are using the state regulation as attempt to protect a profession or your economic interest, you shouldn't be able to do that if there's a better cheaper way of getting things done. Restricting by state licensure, other regulations to restrict this activity and other activity in healthcare falls in that bucket.
In the end, if consumers are adopting genetic testing, large-scale format, it will be done in conjunction with the healthcare system and their -- all the correct to consumer testing will either adopt or -- nonetheless, doesn't have to be that way. With that, I will shut up.
How would you solve Rebecca's situation with undereducated doctors?
You have to introduce a level of competition, doctors will get educated, medical groups, organization, I will solve her problem a different way. There's a huge need for medical advocates, in my mind a perfectly fair commercial organization. There are enough Americans who have the money. If you have the money to pay $1000 for a genetic test you can pay 50 or 100 a month to handle advocacy issues for you. This is an area it can be developed for.
As a good Marx iftd, what do you think about the people who don't have the money.
If it's effective, the government should pay for it.
If we can prove it's cost effective.
At the moment we pay for a lot of stuff that isn't cost effective, everybody knows that, Medicare writes the check every month, but that's not what we are here to discuss.
You are right, let's move to Linda Avey.
Thanks everyone. This is a great group. I come at this from a completely different direction, from Rebecca, having worked in the research community over 20 years, working with people like Eric, really trying to discover the genetic markers that hopefully some day could lead to personalized medicine and care. I was with technology companies, Pearljen, and -- finding people to be part of large-scale studies to make discoveries quickly, utilize great tools. Because of that frustration, I was setting with colleagues, how do we change the paradigm, move beyond our current infrastructure of typically NIH grants funded to a very few PhDs who put in applications, budgets might get cut back, cut back the number of people enrolled in studies. It's all about statistical power, you don't get to the end points you need. I am sympathetic to Rebecca's situation, we are arming people with the information of their genome, but not focusing so much on the specific tests. We are giving our customers information about what's coming out of the research community. There's a flood of data coming out, research results, not clinically validated. Where we see what we are doing with 23 and We, a mechanism for taking results, giving to customers, letting them be paste participants in a big part of the -- what do you have, what problems taking drugs, did you have a severe reaction, compile the information, get to the end points where people can understand better and at the same time work with the medical community. It will take a very holistic effort. We need to work together as a community. No one player in this space will make this happen. We are very hopeful, I myself, not diagnosed with WPW until I was 31, I had drug-induced will you please us. I inwill induced LUPUS.
Thanks, that was an answer to the third panel. What do people get eventually. Let me ask you, what is it that -- because you are the one on the panel who offers such a service. What do people want when they sign up for 23 and Me?
We are starting to get information back, the early things were more information. We started out with the section of our website called the gene journal, where we take research results, translate to customers what it means, the SNPs found, increased or decreased risk for the geno type. When they saw this, they wanted more information. We broadened the categories for what information we are reporting back with a lot of caveats around that. Some studies are well-designed, large cohorts of people enrolled, replicated in other populations, what we call established research. Still a lot of information comes out in preliminary research. We put caveats around it, have a start rating system to make it easy to understand for consumers, how they should be looking, reviewing information. We are now up to over 78 -- [indiscernible] seems to be satisfying people, overheard people taking about it's a one-star study, starting to take this information in, discriminate it based on how we have been able to categorize it for them.
Did you have any sense of how much people use it for the medical side, how much for the fun part? Your ancestry, how you are related to your siblings may change over time as people sign up more family members --
We just had an interesting story come up, a woman also had breast cancer in her 40s, a very well-educated articulate woman, took information back from 23 and Me to her her she thought thee was English, Irish, Methodist, her happen lo group indicated she might have Jewish ancestry, wanted to take that information back, interested to know, should I have the BRAC attest, because this is in my ancestry, it's a very holistic way to look, you can't separate out the two.
Pleats come back to that. I think gnar narcissism is underrated, your genome is just another phase piece -- piece of information about how fascinating you are. I would like to see if Rebecca has any comment on that --
The narcissism thing?
No, the --
I am for it.
I wanted to say I think I am 23 and Me's information support is really good, I have looked at it. It's a beautiful, beautiful effort. I also wanted to say I think the convergence thing going on is really a great thing, and I am very excited about it. My daughter has BRCA 1 also, it means a lot to us to have this information, but I guess I just am still stuck on the fact that when I look out there I don't see what -- Matt referred to as advocate, OM buds man --
Let me ask a question. If nobody is educated, does having more of this information out there, especially information in the context of individuals help people get educated so there will be more advocates in the future. How otherwise can we foster this --
--
Excellent question, occurred to me over the weekend, it's something akin to Africa having 50 countries, 34 have more cell phones than land lines, you don't have a phone book, anymore, but you have all this connectivity. I think what ends up happening, you have to come at it from both angles, and make sure that the information has an understanding understand it. It's not just lots of this, but it's a deep understanding, and I keep coming back to the term legitimate complexity. People don't like that, but it's real. If we could somehow help people understand. We have a star system, an -- system, a rating system, but it's harder than that. We just need to somehow get people to understand that.
Let me try an audience question again. How many of you enjoyed studying statistics?
This is not a representative audience.
How many of you found statistics easier to understand in the context of sports, baseball averages, whatever?
How many in the context of your own genome? Leading question, but it was a try.
There's actually a really interesting group called the information therapy center in DC whose job it is to try to help the promotion of information as a therapy given at the end of each clinical encounter, same as a prescription is given. They had a conference last year, had a group of marketing people explaining how you would make information about healthcare fun and interesting. I asked the question, if you have to do this at a fourth grade reading level, how is it you can, the sports pages can have incredibly complex information, this stuff is written like post-graduate reading level, yet people get it. Part of it is interest. Interest in healthcare correlates very much to it matters to me because I have this condition now. What's going on in healthcare, evolution of the social networking and elsewhere. We are seeing people helping each other do that explanation when something happens. They have to make a decision. I have just gone through this trying to find a surgeon, very little good information out there. It's a two-step process. We have to put out more, better information and more and better raw data, meaning that data has to be collected, forced out of the healthcare system by regulation or consumer and payer demand, slow in coming. And second, once it's out there will we see these advocates emerge? They are doing ad hoc online unpaid, the A Corps, Rebecca you have been involved, the online, American cancer online resources, a million and a half e-mails each month sent out with people informing each other about all different kinds of cancer treatment. What we haven't had is the financial services that charge for -- people you can talk to, to help make the mumbo jumbo of the stock market make sense to you. If the healthcare profession doesn't get involved in that in a big way, [indiscernible] somebody else will do it for you.
I just read a piece in the New York Times about some minors somewhere suing somebody from Morgan Stanley for giving bad financial advice.
Nobody is going to say all the advocates are going to get it right, or be self-interested, but it's already happening now. There's four-fold variation in most medical -- now. Self interest going on there.
If you can go online, get a second opinion, that might help.
Linda?
This is one of the things we are excited about, using the web to present very complex information. You can do it in layers, start out with a ranking system, gives people the first pass at the way they should take the information. What we tried to do, just at the beginning, hopefully improving product, new release, to build in layers where if somebody wants to get to the SNP level, references to all the papers, it's there, just we don't necessarily want to confront everybody with it right up front. Having the layering system is proving to be a good model. If you put out the cookie crumbs, Mary would say the same thing, this is highly complex information. Like the baseball statistics, once people are familiar we think they will be more comfortable with it and start diving deeper and deeper. We are actually very excited and think it's a huge opportunity to educate everyone, bring up the whole playing field to be ready for the day we hopefully have access to the genome, whether five or 20 years from now and can take it to our doctor and they will know what to do for it, but we can't wait for that to happen. If we wait for the physicians to the educated, the scrips medical school is a great idea. 23 and Me is completely optional, people signing up who are really interested. It is about you, you and your genome, and it is narcissistic, but we talk to people that initially, we start the company, are you interested, no way. One had a son diagnosed with autism, he changed his mind. When people have a change in their health, they want more information. Look at Michael j. fox, his life turned around, the foundation, doing amazing work.
You start off as a benefactor, become a beneficiary. I have one thing to ask and then I encourage you to raise your hands. This question is an essay question to a "yes" or "no" response. A person slightly overweight, don't exercise enough, get enough sleep, drink too much, typical person who knows --
You're looking at me.
Who knows they should be behaving better. Now they go online, get the results back of, maybe a higher risk or lower risk, do they -- how do they react? Make it easier to "behave" better? I'm at risk, behave, or I'm at risk, stop trying, if the riff success low? How do people respond? Anybody? I am sure you don't have total data, but I would like to hfer hear how you think the dynamics are.
For us it's still early, we are having a user gathering Tuesday night, which I will miss. But we want to start gathering that data, ask what are you doing with this information, start learning that. That will help us shape our tools going forward of how can we make sure people are using this information properly, not overusing it, but it's informative in ways to positively impact their life. We heard of a guy in 30s, had highest risk we can see with our SNPs for Type II diabetes, healthy, fit, found out through his wife going in, pregnant, found his blood sugar levels were higher than hers. A huge wake-up call, no idea. Now is watching, works at Google, has to watch the free food, be careful about intake. It's something we are hoping we can stress the preventive measures that are positive things people can do, talking to their doctor about that. Like everyone says, we know what we are supposed to be doing, but you see you have an increased genetic risk, but with empowerment --
When I had my genome tested, yes, go to the gym more, drink less, eat less, the problem is I have the wife I have, make changes, the situation most people are in. The category from yank Yankelovich, can try harder. For most people part of a wider issue to do with general wellness, lifestyle, all kinds of things that take behavior change, we are very bad at doing, no support to help us with that, all the economic and cultural incentives are going in the wrong direction in this country.
To my mind, for most people that's how the genomic testing is going to be, kind of helping, but I did actually have, in conjunction with other tests, found I had a high blood sugar, in the normal range in most things, but a bit of a genomic risk. Hard to say I should change my life, it's not absolutely urgent. Another category of people for whom it really does matter. This stuff is crucial information about decisions they are making today or now. You have to look at those categories of people different, assume that a fat 44 year old guy who doesn't get up and exercise, a more general problem --
The specificity of the information didn't change your behavior?
No, because I knew I should be exercising more and drinking less anyway.
I feel less embarrassed about avoiding foods and taking the --
The reason you are eating fried food is because you were embarrassed?
I am less embarrassed, dope the don't do it, I spend so much time with healthcare people.
Rebecca: When my family gets sick, we really get sick, I don't know what I would think if a casual finding came back, but speaks to the Africa thing, the patient is going to be curious, for lack of a better word. They willage agitate for more information, and the doctors can learn, that's a good thing.
Do we have questions?
Can the mic people, if you will raise your hand, Eric? Remember to follow Michael's instructions.
Thank you very much. Few comments, I agree with Matt about the vacuum of people helping with patient advocacy. A couple of points, the diabetes story you ran through, Linda mentioned, note only do we know about markers, but about different pathways of diabetes, sensitive to medicines that exist to prevent diabetes, vn the haven't done those studies, opened up a new area, defining a specific type of pathway that enJenedders a specific type of diabetes.
Mara was an early -- the test of 3500, fess up, say it's not a classic -- perhaps private mutations in your family --
You mean did they communicate it was on an i ntron, not --
I probably didn't communicate well, but what happened, the university setting testing the mRNA, when it went to Myriad, everybody got fed up with waiting, got it back, having paid the money, they disclosed that, told us this occurred. What's interesting, I will make this brief, Dr. Barbara Weber, her lab was testing mRNA, not the -- she felt it was such an important aspect of testing that had a patient outcome, brought me back to her med students four years running into tell them that story. Embrowning I I don't think she would mind my sharing that with you today.
I am George, chairman of industry at University of -- and molecular industry, I started 13 years ago, published 1500 papers in the 13 years, and I go over each of them, and -- the ones not accepted, probably 5000 papers, mostly psychiatric genetics -- [indiscernible] the field goes, that's how we proceed, other reports proving or disproving, confirming or non-confirming something. My question is, even though the idea is very attractive, the issue of -- validation, I find it very troublesome. If you have a mono genetic -- breast cancer, something like that, but for complex diseases, what does come out in the research doesn't necessarily apply to real-life clinic. Linda, I went to 23 and Me, I am the most technologically addicted person. I live in the Internet, do everything virtual, go for everything new, I [indiscernible] everything, all the -- very last moment, confirmed this, I didn't confirm. I quit. Which is the very first time in my life I quit something technologically based. My thinking is this, my family riff being is fame risk is heart disease, everybody -- heart attack, die like flies, anyway. My thinking, correct me if I am wrong, is this. If I have a genetic predisposition, I will be more neurotic, I should lose weight, have a better life. If I nonet -- the risk, am I just delaying -- I don't think I should, didn't take the test, dropped 14-pounds, I thank you for -- the benefit without being tested. Then my other concern is, are you 100% certain, mathematically, absolutely convinced that the data will not be hacked, stolen, passed on to somebody else, inadvertently gotten by some third-party? That's what is another factor for me. Not going to change my life. For me specifically, I don't have any -- family -- [indiscernible], for those I have to do what I have to do anyway, whether I have the risk or not. Then I have a potential problem, the private --
So 100%?
The question?
First of all, interesting to hear you went through the whole process and ended up not signing up. Something we like to hear, people go through, think about it, decide at the end it's not for you, you absolutely some not do it. It's good to hear people come to that conclusion. We say this is not for everyone. One thing interesting watching my father, the male side of my family, the men die like flies, and my dad is turning 79 the end of this year, frankly shocked he's still alive, thinks he's going to try of a heart attack every day. It's an option people have who are curious, want the information. We make this available to them. I can't argue with your decision. If it was helpful, I am glad you went through the process.
I think you should send the $900 bucks --
Or donate to a charitable cause. On the security of the data, we put so many measures into place, I think the banking industry has done a phenomenal job of developing online tools people have gotten comfortable with. We came out with websites to buy things online, people were very afraid, put my credit card on line? People noticed new things, but you look back at the old ways, you let somebody walk away with your credit card in a restaurant, who knows what they could buy. People are concerned, we look to industries developed in the space, the technologies. First and foremost for us is maintaining privacy and security of customer's data. We are finding because we allow people to share certain portions of genome, the two levels, modest and basic versus more extended sharing, it seems like a lot of people are opting into that. It does seem like the minute people get their genetic information, with 23 and Me, the minute the paper comes out, what do you have, here's what I have, what are your risks? It will become more the common vernacular. People will start talking about this.
The privacy thing, that's really important to realize, there's a big divide with consumers about this. Another company not in the genetic space, patient like me, you may be aware, the southeasterly network, chronic conditions, Parkinsons, ALS, you sign up, up will be giving other people in the community incredibly detailed information about incredibly personal parts of your life, yet people found it so valuable they are sharing all kinds of information about themselves. Back to the question, what if the information got out, banks do get robbed, what's the possible consequence of data getting out. Most people are concerned about impact of future ability to get access to healthcare, insurance, and a separate issue anyway.
I was really disappointed, my -- ran out last month, I went through the process of getting individual insurance. I asked, would you like a copy of my genome? None of them wanted it.
Didn't know what to do with it.
On the flip side, the government, NIH, the answer to full disclosure, being transparent, putting genetic profiles on the web, collecting these bits of information on many many people. To me what gets lost is who are the people whose genomes are being put on the web. You talk to Neal -- other geneticists, with two -- I can identify the person, have their genome, you can't de-identify genetic information. It's more important the consumer maintains the control of their information, if they want to share, completely up to them, to have this answer you signed up for a study, signed away your life, genome on the web, we don't know if that's a viable option.
[indiscernible] consumer Report; Linda, if you found your customers want genetic counseling, do you offer one-on-one genetic counseling?
It's really early in the process, we haven't had direct requests for genetic counseling per say. Most have come along the lines of Jen Jen genealogy side, people got their assignment, surprised, find it very interesting, compelling. May have done another service with not quite the same information, for mi to might owe coned rial, we want to do education on a broad level, compiling, aggregating information, we might as well leverage to produce tools, have discussions with physicians, whoever we can in a big way. We had webcasts, anyone can sign up. We have a demo account, people can sign up without paying anything. Through the genomes of the Mendle family, interesting comments on that, part of your demo account when you set it up. One woman wrote up, saying I am related to the Mepdles, we had to explain they are their for demo purposes, probably not related to them.
The tool is available, sign up, get access to tools and see all the information we share with our customers, how it's formatted, how you are able to look across different generations, so many tools for families people are very interested in. It's a good question and we are anticipating how to work with all the different groups in the genetic counseling field.
In a 23 and Me field it would be nice to ask people they talked to a doctor before --
We have gotten a few researchers who are ready to write grants, get funding to do work with us, develop surveys.
I am Jim Evans, geneticist, I am a a naysayer. Mass marketing the appeal of genomics takes the real appeal from this type of endeavor. I think -- studies, understanding our SNPs, association with disease has incredible potential for illuminating disease, for medicine from the public health perspective, for drug targets, et cetera, but I would submit that the -- of Dr. Tope ole's risk, telling him he's gone from 42% to 54% risk of coronary artery disease is essentially meaningless information. If everyone embraces that information with the same enthusiasm, that I hear being advocated, and those individuals who embrace with the same enthusiasm a reduction in their risk, from 54 to 42%, we will a lot of people using that as reasons to not exercise, et cetera. I think this type of effort takes the eye off the ball of where the real benefit of where genome-wide association studies are. I think before we start marketing perhaps we should find out. We put the cart before the horse. Find out if people will respond in the ways that are so magically suggested they will exercise more, find out [indiscernible].
But let me ask you about myself. Why don't you pg I should be able to do this without --
What I think you deserve, a clear explanation and not a marketing ploy that this is useful medical information, because it really has not been shown to be useful information. It's fine from a recreational standpoint if you want to spend your money that way. Finding out you went from 42 to 54% risk of heart disease, is meaningless for you.
I don't want see anyone telling me that 8-point differential is important.
It's a huge part of the appeal the companies are banging on to get people to send them $1000. It's a real appeal to this will be useful medical information. It's disinJen yows to say -- of course you are trying to maintain you are giving people medical information. I debate there's substantial meaningful medical information.
Have you head the content of the sites carefully.
Oh, very carefully.
I do agree with everything Jim just said. If you read the sites carefully, not -- if you read -- [indiscernible] Deputy record, the NIH, you read the sites carefully, it's extremely well-worded. If you walk away with a general impression it may not match what the wording is. What I asked for the mic for is a comment on something Linda said about Dr.'S access to -- it's a limited access database, he would have to show valid use research before forwarded the information and a user agreement, other requirements require he said he would not use it to try to identify individuals. If he did, the federal government were aware of his doing that, we would take a number of steps to follow-up on his misuse of such information, just to give some -- can't be doing a -- would violate research ethics, just as others, would be followed up to [indiscernible]
I am curious if when people signed up to the part of studies, if they knew their information will be --
If the informed consent process was not appropriate for use in this way in fact it is not placed on DB gap. We look at all the studies which apply -- DB gap, rejected another because the consent was not appropriate.
Great.
The word naysayer is more what Rebecca was talking about, being a careful proceeding with caution type person, and once, a little bit what Jim Evans said, I don't have a problem with people spending 1000 or 1500, in this case genomics can really make the next 10 to 20 years very exciting if we do it the right way. There's a lot of discovery happening. The value of the information that's currently out there is not there yet. I have to echo Jim, and Allen, and others. The reason I say that is because from -- summarizing briefly what I said in the New England journal of medicine, we don't know the know if the information we get from one company is the same as another company, don't have a good handle on oversight, olympic performance of assays. You tell me this heart disease goes from 41 to 52%, tomorrow you might say the reverse. More importantly, we have no clue as to whether this information provides additional value to risk factors for that disease. As a matter of fact, all we know, the Type II diabetes literature, heart disease, pres Tate, all these mentioned earlier, if you do a good analysis of the area under the curve, there is no more prediction to be had for these diseases on top of what you already know, which is family history, age, sometimes race, ethnicity, sometimes traditional risk factors, from the Framingham profile for -- disease. I have no problem with people spending money, but people have to exercise, eat well, do the right thing from a public health perspective work. Whether or not your additional 1 and a half or 2% will make or break that, it has to be researched. I applaud the effort to do more research to figure out the impact of this information, but whether consumers should pay for that while research is being done, I have a problem with that. Research, by definition means -- [indiscernible], that's all.
Captioner transition.
Please stand by for realtime transcript.
Captioner trying to access audio number but it is busy. Could you please reset the number? Thank you.
I think that basically, it's the, I can't really see the difference between not-for-profit Marketing or not-for-profit Marketing and research --
It's not-for-profit.
Yeah, whatever. You can answer it whichever way you want, so, Rebecca?
{LAUGHTER}.
Don't look at me! I mean --
I think that there's a question whether it's profit will bring profits into it.
I mean, great. Welcome to America! I mean, what part of the healthcare system does not have profit Marketing in it and that includes by the way almost everyone in the non-of profit healthcare sector. I mean, great idea. I mean, that's not how this country works. I mean, we have debate, we have people shining bright lights at this, as they should the rest of the healthcare system which is exactly what's going on and where the money flows, exactly. And it's ridiculous, given everything else that happens on healthcare.
Thank you. That was clear. Rebecca, any thoughts?
I'm not sure I understand the question but in general I agree, I think free enterprise has made us a really great country and we should continue with that paradigm. We just need to do it carefully.
Thank you. Linda?
Yeah, I'll voice the same thing. We really think at the end of the day that will make these successful companies is having a really great user interface where we make this really clear, for people, we hope the costs will continue to drop which we think they will. If you look at the cost of geno Otyping and it's dropped tremendously so we really think the value of this is having a lot of people engaged and willing to share information and as long as they're willing to do that, if you try to do it in a not-for-profit way, which we talked about, can we either split out a not-for-profit side or do something a little differently and the problem is that when you're running a not-for-profit, it's really hard to hire really good engineers, really hard to build a really strong team to build what you need to get people to want to participate in the first place so you're kind of between a rock and hard place, so we felt like we could be a temperature that does good and does well and that's really our mission, and we're going to be voicing that more and more and wanting to be our doing our own studies and hopefully we'll be doing funding and hopefully we're successful so we're sensitive to that problem but we think it's free enterprise, it's America.
Let me thank the panel for being a great panel. I think we need to more fovr ward with free enterprise, free consumers all in the context of having more panels like this so people understand what they're doing and what the implications are. Thank you very much and thanks to the audience.
nraws mraws.
Well, thanks to the panel. We have a break now, we have a 15 minute break that will bring us back at 5 to 3:00, please? If you can do that, I know 15 minutes is short.
If you could head to your seats, please, so we could get started again. If anybody can see colleagues out in the hallway, if you'd like to let them know that we're going to start again.
Our second panel is going to concentrate on quality standards and genetic principles. Dr. Reed Tuckson is going to Chair the panel and this panel will be addressing, where did they go? I lost my -- addressing issues on genetics, health, and society. Dr. Tuckson Chaireded the Secretary's advisory committee on genetics health and society so without expanding anymore, I'll let him take over, introduce his panel and we'll get started.
Thank you. Good, good! Good afternoon! Good afternoon!
{LAUGHTER}.
Good afternoon.
Now you all going to wake up one way or the other. So and if we could get the people in the back to come on in, because I'm not going to have my first panelist talk to confusion.
Now, we're going to change the order a little bit, because we decided that we wanted to, so we could do that. There are two issues really before us in this section, and again, just to orient you, is the testing process reliable and is the information privacy maintained? And so I'm going to break those into two distinct sections and we're going to start with this question of: Is the testing process reliable? Well, this has been as all of you as observers know, a fundamental issue in this field for many years. I think most of you you are familiar with the work of somethinging called the Secretary's advisory committee for Genetic Testing which was formed several years ago and that advisory committee's whole function was to try to get to this question of the adequacy of the oversite of genetic tests, and that is work that continues forward to this day.
The question then becomes is is is it in fact true that genetic tests are reliable? And one of the good things that is is occurring in this area to give us a better sense of it and to give us greater assurances is the new Secretary of Advisory Committee on genetics health and society, the audience being extremely populated by many of those good people and former colleagues of mine I see. They have put forward an important report to the Secretary, which is now being analyzed by the Secretary's Office. I will tell you that that report does raise some important issues about the adequacy and the reliability of the over sight of genetic tests. In fact, I see government holding up a copy of it right now. The government is in the room.
Laugh of laugh.
And so, the real issue is that there are issues here, and so without going further into it, we have some perspective. Question related to Number 2 is: Do consumers really care if it's reliable? Do consumers really have a position on this? Don't most people just say, well, of course the government has taken care of all of this. Don't most people say: I don't know any different between genetic tests and all of the other tests. I just assume it's a a holistic big hole and somebody is taking care of it so the question becomes: Do consumers really care if it's reliable or do they just expect it and finally, do consumers actually perceive that there is a problem? Whether they care about it or not, do they think there is a problem, and if they think that there is a problem, do they perceive it in a way that is determinant? Does their perception of reliability cause them or their perception of non- reliability or uncertainty cause them to act or not act act in a certain way. So those are some of the questions that would be derived from our organizer our organizers. Is the testing process reliable.
Let me then switch to the second half of their challenge to us: Is the information privacy maintained? Well, a big contextual issue here is of course whether or not you will be discriminated about because of the information. We are all, I think, celebratory of the GENA Bill and that was a long effort by a lot of people, many of whom are in this room today and so at least that starts to give us some sense as we frame this conversation around protection of misheard use of the information. Still, is privacy maintained, in fact, and is it maintained in a way that is more or less stringent than in other areas of medicine. We come back to this question of genetic exceptionalism. Is the privacy of information in genetics more or less maintained than in other areas of medicine? And secondly, is this an issue of concern or consumers? And is their concern determinant? Do people worry about this privacy of information? Do we have any sense that the GENA Bill has taken away the concern around misuse and now it's a question of essential just privacy for its own sake and is that concern determinant? Does it result or will it result, for example, in an unavailability of this information for coordination of care and disease Management resources?
I think most of you in the audience are aware that today s healthcare system with chronically ill people, the healthcare system is organizing itself to be able to use data and information to help navigate people through a fragmented care delivery system, helping to get people to the full array of the services that may be associated with their clinical condition. Will concern for privacy cause the inavailability of that information to be used for these critical purposes and have an interesting, inadvertent result, and that being that people with chronic disease, people with complex illnesss who need lots of care coordination won't be able to get it because of peoples concern around privacy, thereby not making the information available and then compromising health status.
Will peoples concern about privacy result in the un availability of this information to share with family? And so what will it do to family dynamics at Thanksgiving dinner and will it mean that there will be some people at dinner who will hope that certain people at dinner like the moderator will be quiet? And just not talk about things? Will there be some family members who will notice that other family members have gotten pro far lactic surgery and there by will have information that they wish they had not had and what does that do to the dynamics of family life.
And finally, will this concern cause a chilling effect on public health surveillance and population based prevention and research, and so the question is ultimately, do anxiety its have determinant outcomes in this field? Well, with that as a table setting, let me turn to our speakers. Do not be distracted by the agenda on your program, because it's wrong.
Our first speaker is going to be Jeffrey Gulcher who is the khiv Scientific Officer for De CODE Genetics. Not only is he here because he's one of the Founders but he's also here because his colleague is stuck in switser land.
Iceland.
Same thing!
{LAUGHTER}.
Not if you have been to Iceland, sir!
{LAUGHTER}.
A long way away is the point.
{LAUGHTER}.
So, we're very pleased though that Jeffrey is here and Jeff is going to focus in a bit on this issue of reliability of clinical tests and we're very happy that you're here.
Thank you. I just want to point out that we've spent a lot of time thinking about genetic risk tests because we're also a diagnostics Company and we make available to our reference laboratory, laboratory derived tests for genetic risk for individuals in addition to De CODE which adds some additional diseases that we have not yet developeded tests for and offered it as an individual set of tests but when it comes to reliability, it's really important to emphasize that the genetic risk tests that we're all putting together are Risk Factors, the risk markers. They are not really a true diagnostic from that point of view. They certainly are a determinant test either, from a genetics point of view because this is not like the Huntingt's Disease, so that if you are positive, you will get it no matter what you you do. Conversely, if you do not have the gene, you will not get Huntingtons no matter what you do so it's an interplay between genetics and the environment and no single gene will determine whether or not you develop a heart attack or a stroke.
So really these tests when we put these tests together and in some case these things are single or two marker tests and in other cases they're eight marker tests, for example, in some cancer tests, eight markers together define risks compared to the general population of developing prostate cancer anywhere from .4 fold up to seven fold. So, for patient who has a high risk for prostate cancer, they aren't going to be told that you're definitely going to develop prostate cancer and for somebody who has a lower risk-based on a genetic profile the patient won't be told that you're immune from prostate cancer and there for you should not get PSA testing for example, as a screen.
Just as physicians, will tell their patients who have the upper quartile, he won't tell a patient, you'll definitely develop a stroke or an MI, right? So we need to manage that risk factor for you and the patients in the lowe quintile, they won't tell them, let's not pursue any other Risk Factors or manage other Risk Factors because the number one cause of death inpatients is LDL cholesterol is still MI and stroke. Right? So as physicians we know how to deal with Risk Factors, we know how to manage them low risk or high risk. The key is to be able to put those together in the context of other Risk Factors and use them to prioritize patients to those who deserve maybe more attention when it comes to earlier diagnosis of cancer or to motivate them to change their lifestyles and manage the other Risk Factors. If indeed the information does add new information that's not already being assessed, and some of this maybe information is what we've done with what we're already capturing today with either family history or the other Risk Factors and I could content the important thing to realize is these common genetic Risk Factors are adding something much beyond family history. These are not rare variants of high effect, and if you look at paper after paper, our own discoveries and others, it does not capture family history so family history alone will not substitute for this genetic profiling. Conversely, 95% of prostate cancer patients do not have a family history of prostate cancer, diagnosed prostate cancer so you can't rely just on that, that these tests are useful for those who don't have family history, by definition it's adding additional risk information beyond family history, so it's not substitute although it can be interchanged.
So when it comes to reliability, it's important to communicate to the patient and physician that these are not determinants, so if somebody says is this a reliable test that will predict if I have a stroke? No, you can't say that. You can only say this is a risk ratio compared to the general population risk and there are other Risk Factors that need to be measured, and there are many genetic Risk Factors we do not know yet but still this information may in certain cases be useful to act upon for your physician.
So that's reliability in terms of interpretation but then there's suggestions by others that others maybe we can't measure the genotype, the genetic information very accurately or that we can't really tell the FDA or CMS how accurately we do measure. That's so-called analytical validation component of a diagnostic. The analytical validation for a genetic reliability of that measurement, of that information is much easier to measure yourself or to determine its accuracy yourself as a laboratory, much easier to demonstrate to the FDA or CMS that you are accurate, because genetic information, it's pretty cut and dry, at least the single based changes that Dr. Topol mentioned, very easy, sequence based, sequence that one little location, which is considered by the FDA the gold standard for genotyping and match it with your geno typing platform and what's the rate and I would guarantee for all three of our companies is very very high indeed. 99.9% plus. But it's easy to demonstrate to the regulatory bodies how accurate that is and to communicate that to our patients so we talk about reliability, we can measure reliability, much more reliable than demonstrating how reliable can we measure CRP or even LDL cholesterol or other biomarkers that fluctuate within the sample that you're measuring. A lot easier to describe that and document that.
So let's move on to the clinical validity. That's the second piece of CMS or FDA, when it regulates a diagnostic. The clinical validity if you move to my first slide, just want to summarize, the genetic risk test that we provide are very well clinically validated indeed, if the definition of clinical validity is that you discover them in one population and you replicate them in multiple population. We're not talking about clinical utility. We'll get to that later. Clinical validity. Does it replicate? Does it have the same effect in multiple populations. This is for the markers we provide, these population, these same set of markers have been replicated in multiple populations. In some cases they've only been tested in caucasion populations and other cases they've been tested in other ethnic populations and replicated but the point is they're clinically validated in the populations being claimed.
So when you sum up all of the patient populations that are behind the diabetes markers or the prostate cancer markers, you realize the number of patients and controls together are in the tens of thousands, and in many cases you have over 10,000 patients behind that, for the MI test for example, or 5,000 patients versus 30 or 40,000 control, so you have a lot of data behind them, larger data sets behind these tests than for most FDA-approved diagnostics and therapeutics. So, they are well validated from the standpoint of replication and when it comes to estimation of what that risk really is, we aren't using 200 or 300 patients to estimate what is the true relative risk O of this particular genotype in these caucasion populations. We make use of these full tens of thousands of patients to estimate the relative risk. Just as a clinical trial uses thousands of patients, define what the relative risk reduction is due to a drug, but these are tens of thousands that are estimating this particular risk across populations and we think that's a pretty good estimate, to have a higher precision than that, we have to have 500 thousand patients or so. So, we think that the clinical validity for many of these tests is already there and I should also mention that these markers, you can demonstrate with these large population sets that they are independent of each other meaning that they don't, they aren't synergistic or redundant with each other and so there for you don't have to come up with complicated models of how to put these eight different prostate cancer markers together to define the risk to that particular patient. You can first convert the odds ratios that we typically report in all of our publications to risk ratios, relative risk compared to the general population so that you have a standard population by which the risk is compared, and then because they're independent Risk Factors for prostate cancer , you can simply multiply the genotype specific risk for each of those eight markers together, to define the composite genetic risk compared to the general population. This is what physicians have been doing for a Century, multiplying independent Risk Factors together to define composite risk so we any that's a way in which it's easy for physicians to in general understand how we're doing this as long as we're trans pair ents in how we define clinical validity.
If we go to the next slide, this answers the " So what" part which is really important to have in this discussion about analytical and clinical validity because if this information is not useful in certain circumstances, then why are we even having this discussion? Shouldn't we wait until another 50 different genes or types of diabetes have been discovered? Or is this information useful today? If we had waited for the assessment of HDL or some particle sizes for L DL, should we have waited before we measured total cholesterol or even LDL cholesterol, waited for the additional nuances of cardiovascular risk? No. We use the information as we discover it, as long as it adds something new and I would contend it does indeed add something new. The heart attack variants that were mentioned, we're talking about, it's a modest risk, 1.5-1.5 depending on the age of onset of risk, but this is an independent risk factor, independent of LDL cholesterol, hypertension, smoking family history, Risk Factors routinely measured. There's a recent study that showed there wasn't much of a change in the AUC for cardiovascular risk. It only went from 62% to 64% but not significant but there was a significant reclassification of patients between the low intermediate and high risk categories based on criteria which most physicians used to. Substantially about 15% of patients got reclassified so here is an example where there is something you can do differently about it. You can change the target level of LDL cholesterol if a patient rises to a dichbt class. Prostate cancer, eight Markets, breast cancer we're about ready to launch a test for breast cancer off an individual test, 5% of the general population is twofold risk for breast cancer, this is for more late onset breast cancer, which has a much bigger public health impact than the rare form, early onset form of breast cancer, and so it provides another way of assessing risk that compliments BRECA1 & 2. Type 2 Diabetes 10% of the general populations, pre-diabetic s actually convert at a very high rate and they have a 50-70 % absolute risk within three to four years based on the DPS study, a clinical trial where the genetic markers were added and finally I want to mention before the case study, atrial fibrillation, we discovered markers for atrial fibrillation we then asked the question what's the clinical utility, tied them to a series of stroke cohorts and identified there's a large portion of patients that are not being diagnosed with having atrial fibrillation. They go in and out of atrial fibrillation. The public health impact of not making the proper diagnosis is where anti-platelets do not work very well for prevention of stroke related to AF, but it cuts down stroke risk by about 60-70%. If one were to use this test today in the healthcare system, we estimate 150 thousand patients would be diagnosed with atrial fibrillation related stroke and can save Medicare a billion dollars a year, if applied in that particular manner.
So, it can have an impact but only if you pick certain niches where there's the clinical utility that you can demonstrate. Next slide?
So finally I want to give you a case study which is my own. I have a family history of prostate cancer with late onset version. My father had it when he was over 70 years old, a benign form. The AUA guidelines would not suggest that I would be concerned about early onset prostate cancer because my father had such late onset and the guidelines suggest if you have a family history of father or brother with prostate cancer with onset of younger than 65 that you consider doing PSA testing earlier than normal. Normally it's recommended you start getting PSA test at 50, if you're at higher risk, they suggest you get it at 40, and more compulsive, I went ahead and got it tested anyway at 42 and was below normal and then I got my De CODE results back and my relative risk was now 1.88 just on the basis of my genetic profile alone, lifetime risk for a white male is 16% so I'm double that risk and by the way there are no other Risk Factors for white males when it comes to prostate cancer. it's not some other identifyer that can help my physician decide, should I test or not. Also the markers suggest I had a moderately increased risk for aggressive versus non-aggressive prostate cancer. So the high risk prompted my primary care physician to refer me to my, it prompted my PCP to measure by PSA, I'm only 48 so would normally not have had my PSA tested at this time, but it was high-normal at 230EU7B9 5, the range is from 0-4, some people use different cutoffs, but the high risk prompted my primary care physician to refer me to a urologist. The high risk prompted him to recommend an ultrasound guided biopsy, which was positive for intermediate grade prostate cancer, with about 20% of my prostate is still filled with cancer.
If I had not had this information, my primary care physician probably would not have ordered the PSA, would not have referred the high-normal range PSA to a urologist, and maybe he would not have recommended an ultrasound guided biopsy. Two weeks ago, I had a bone scan and it was a normal CT, so it doesn't look like it spread and in two weeks I'll have my prostate taken out. But here is an example where this information can indeed be useful but only in certain circumstances. We're not suggesting that everybody be screened, but in certain circumstances, this information can interact and work together with already established guidelines.
Well thank you very much and thanks for sharing such a comprehensive range, not only technical but personal, we very much appreciate that. When we get to the question period I'm going to ask you some issues regarding again from the consumers perspective, how does the consumer know? How do they know that the tests and your tests do what they say they do? You've also opened up the box of reliability and interpretation of information which we may get to but at a very fundamental level, you seem like a nice guy. De CODE seems like a pretty nice Company, but again how does the public know and is there adequate oversight that says somebody is checking on you despite the fact that you're such a lovely person?
Ryan Phelan, Founder and CEO of DNA Direct. Would you carry this forward?
I'll try. Thank you for including me today. My Company, DNA Direct does a little bit of a different service in the genome light array that you've heard about today. We offer service iss that we call medical diagnostic tests, genetic tests that help people make healthcare and medical decisions. We're not the lab. We are a genetic expert. We are comprised of medical geneticists that act as a Medical Director and guide our protocols and genetic counselors that interpret and provide information to consumers. I started this Company just over four years ago and so we actually have real on the ground experience talking with one sumers, patients and providers every day and I thought I'd share with you a little bit from what I've learned from our customers and also I'm realing with all of this, all of these things that I'm thinking about in response to still many of the thoughtful questions raised here today.
I'm going to start with actually something that Rebecca, which our Company does the RHCA testing and again we work with Myraid Genetics as our lab and we help people with whether or not testing is important and I'll talk about them a little bit because to me that's what's involved in is the testing process reliable. Dr. Gulcher has done a great job in talking about the analytical validity of these tests which run 99.9% in molecular diagnostics but it's the whole process that I think consumers need greater understanding and awareness of and in a sense, should actually drive for even a better quality and standards in this industry.
So, I started the Company because I new people were not getting access to some of the medical genetic tests that I thought were really useful that medical guidelines were established saying people within a certain protocol where testing would be relevant and our Company does the same kind of assessment for determining who is appropriate for testing , by demonstrating the pros and cons of testing and helping people really make an informeded consent and I believe that that has to be a really important part of any testing process.
So, what I have up here on this slide is just a handful of the questions that consumers raise every day. And we know this both from phone calls we're getting, from e-mails and from where people look on the side, so obviously , can I trust this test? Can I trust this Company? Will my results be kept private? What is your privacy policy? Will this test actually help me make a better healthcare decision ? Is this test going to be covered by insurance? Will these tests give me peace of mind? These are the kinds of questions that consumers have and that companies have to provide answers to, with transparency, and I believe that where our industry is going, now that there are even more reputable companies, I believe, coming into the space, is really trying to create some industry guidelines, sort of best practices so our Company provides full transparency around our policies on our site and I believe it is going to be an increasing standard that will happen.
May I have the next slide? I also think that it's important here today to talk about this field of genetic testing with way little bit greater distinction, and so I've done sort of a very crude way of categorizing testing, so on the very bottom, I've put down diagnostic testing from very targeted genetic diseases and I've included in that as an example, Huntington's disease, and as Jeff mentioned this is a highly deterministic test and it's one where people who carry the mutation will in fact at some point in their life develop Huntington's Disease and what I've put on the right hand side are examples of support services that I believe have to be provided in order to offer that testing in a responsible manner. So on the very right hand side, it says in person consultation, and I'm assuming in a physicians office with healthcare professionals doing some kind of physical and mental and emotional assessment of this particular patient in order to determine whether or not Huntington's Disease testing would be relevant and useful to them. That's standard clinical practice and that's part of the medical guidelines but as we move further up the ladder of genetic testing and where we're going today and into the consumer world, we're seeing predictive testing, up for serious healthcare conditions like BRCA, and probably many of us in this room would debate whether or not BRCA testing needs to be done in a physicians office face to face.
Well the truth is in major academic centers all over this country, even they are having to often utilize genetic counselors by phone, and some people prefer them, prefer the phone to a face to face, and in addition, it can reach a much greater audience of people. That's with very limited genetic expertise and at DNA Direct we do everything by phone but pre and post-test counseling by phone and by web. So that's an example of where we're starting to see a virtual provider actually filling a clinical need. And as we go up the ladder, I've got genetic screening, carrier risk assessment, for things like cystic fibrosis for pharmacogenetic testing, or for Tamoxifen testing, at DNA Direct we do that without a phone consult per se being required, but with physician oversight, so also with web support.
And then as we go up that ladder where you see genome wide testing, I've included genome wide arrays like some of the companies we discussed here today but also full gene sequencing. I think what's going to happen is is theres going to have to be a different level of support in order to responsibly provide that service, and at some point, today, we may say that there are, you know, a handful or a dozen tests that have clear clinical implications, but if we fast forward 18 months, five years, those tests are going to become more and more predictive and they're going to have greater and greater weight and the question is at what point does that testing require physician involvement? At what point should it require a genetic consult or medical advice as Rebecca was mentioning, or health advocate? At what point are there intermediarys that help some of these consumers 1) make a decision whether or not testing will be helpful and relevant and appropriate to them and 2) what are they going to do with the information once they get that result? Do they have any kind of safety net of people that they can actually talk to.
Let me just make sure, because you mentioned that some of these you think should have checks. Are you saying that the --
Those little funny boxes on the right.
Oh, the funny boxes?
Okay, so the stars?
The stars were meant to be stars.
Okay.
I'm saying they're condition-dependent and the little windows, they were supposed to be checkboxs.
So it's right in the handout, by the way. Good, keep going.
So, this is kind of a wild leap with really no set up but this is an idea called DNA Perspective, it's a concept that DNA Direct is working on, we're inviting industry wide collaboration with non-profit and academic institutions and others to actually help consumers identify whether or not a test is going to be useful, responsible, and relevant to them. So this is really a placeholder. We're starting this around just with gathering information from different experts on Alzheimers testing, and what you see here is an experts rating system, so this would be actually provided this information, the score would be done by a dozen or so medical experts from around the country, their discussions regarding whether or not they believe the gene has scientific validity would be completely transparent to anyone who wanted to look at this with me, and we're in the process of doing this so we did a place holder here saying that you could probably agree the scientific community that APO-E gene is correlated to the scientific validity for Alzheimers but the predictive value, just a random of 25 is probably a lot lower in predicting who will actually ultimately get Alzheimers and who will not and hence the clinical utility with there being no known therapeutic intervention would probably be viewed by the scientific and medical community very low, but I'll show you as an example, a personal utility, with a score of 75, if we ask consumers and there have been studies that show this, if consumers would actually say, knowing pry pre-disposition for Alzheimers would be highly useful to me as a consumer and what I'm trying to do here is show that there are going to be services like this, whether or not it's DNA perspective and if it grows, it could be something that the industry actually comes together with, with government and non-profit agencies actually really building an independent p rating system. This is where we have to go, because these questions about how do you know what one test, one Company, one service, one variant, what's the real usefulness of it? I think there's going to be a lot of public debate on this and I don't think we can wait and say that this all has to be done before anybody does any testing. The testing is happening. Information is happening and it's getting to the consumer but meanwhile, we need to be able to figure out how can people actually start to look at what experts are saying about this and then ultimately how can consumers get in and provide their own information, their own feedback, on the usefulness of these tests and of the actionability of these tests.
So, we're going to be launching this Fall with literally just this one gene variant with our scientific community, inviting consumers to participate in this discussion, and I'm really putting this out as a placeholder to people here in this audience who may know of other industry wide initiatives, people have talkeded a lot about the need for a rating system but I believe that we need to start to make this happen and to see what are the components that really make a difference for the end-user who is the consumer as a patient and the provider.
Thank you very much. I'm going to come back and ask you to go in a little bit more when we get to the question period around those consumers that are on the phone, what are they really saying to you about what level of ease they have about this reliability business and this privacy business so so just know that I'm going to come back.
For our last presenter, Deven McGraw is the direct of of the health privacy project, the Center for Democracy and Technology.
Thank you very much. I worked on a couple of things during the first panel that I thought were really interesting. The one was from the survey data. People assume medical privacy. I think that's really, it's an interesting point and I'll come back to it in a minute. I think the other piece that was interesting was that to the extent we put it all into privacy and security issues we went more towards the security pieces. The data is secure. It's encrypted or whatever, people can't get into it and we see a distinction between privacy and security, but both are quite important and I'll go into that in a little bit of detail too, and the other thing that I thought was so interesting about the Marketing presentation and the different types of consumers is just how valuable data that could target marketing and advertising would be which if none of us had a sense about just how valuable that identifiable data about what people might be pre-disposed to get in the future, even more particular conditions they have would be the advertisers, there's certainly good evidence for that.
So, I don't think anyone in this room would disagree with the statement that the privacy is very important as is the security and the truth is that what protections we have had a bit of a mixed bag. There's some better news today than there was in the past because of the passage of GENA, but what's so often is the case is that we are either understating Hurricane Rita Over stating the amount of protection that we do have. And the protections really are important to think about in two ways. One is what can people do with the information? This is the privacy piece. What are the permissible uses of health information, whether it's genetic information or information about health status?
The second question is if you've got that information, to what extent can it be used in ways to warm you and this is what people tend to focus on most. Can it be used to discriminate against me E? Can it be used to hurt me in terms of getting health insurance? Can it be used to hurt me in terms of employment, could my employer fire me or not get promotions, etc.
The good news about GENA is that at least with respect to health insurance and with respect to employment, you can no longer use a piece of genetic information for discrimination purposes. In health insurance and in employment, but we didn't quite finish the job, we still have some work to do because number one, if you have the manifest Asian of the condition for which you have the genetic marker, the information that you've been treated for certain condition that you have a chronic condition isn't in fact protective under GENA, and the extent to which a health insurer can use it for underwriting purposes or the extent to which an employer can use it if they're able to obtain it for employment purposes, kind of depends. We have the Americans with Disabilities Act on the employment side, there are some protections on the insurance side under HEPA, some under some State laws but it's a very incomplete picture, so while we have taken care of some things with respect to genetic information, we still have the problem that that raised which is the information once you actually is have a condition can often be used in ways to harm you.
Now, getting to the point about Hepa, the privacy is assumed. It's so interesting because the point there I think is that people often assume that when they are entering their health information on a website or even with respect to the information that their physicians or hospitals have about them that that information can only be used in certain ways and typically, people really significantly underestimate the extent to which health information can be lawful it used, and the point I'm making, more than anything, is that on the transparency point, is for consumers to have a much better understanding of what are the permissible uses of their information and not, so that when they're seeking care, when they're seeking to get a genetic test, they have an absolutely complete understanding, and I couldn't agree more with the folks who said earlier that if you've met one consumer with respect to their privacy concernings, you've met one for their privacy concerns. There are a lot of people for whom are willing to disclose a fair amount of information about themselves in the interest of whether it's research, whether it's part of a social networking site, etc. Again, if I'm a privacy advocate, I think that's nuts! But there are people who will do that, but the policies about what that information, even to the extent that it's disclosed by those folks will and won't be used is really important, and it's not just a matter of what the legal regime is. I mean, how many, in terms of even just looking at a privacy policy and understanding what it is that the folks that the Company you're entrusting your information with can and can't do with your data, there's lots of evidence out there about how people don't tend to read them and if they read them they don't understand them. I don't know when the last time was that you signed up for something and just scrolled through that privacy policy and clicked that box at the end. I've done it myself. It's not the most protective way to do this.
So getting to HEPA. That's the federal law that we have that governs the uses of information, the privacy protection, the security pieces that need to be in place for covered entities. A lot of the folks who are obtaining medical information now are not currently covereded under HEPA, and its coverage is pretty limited, its hospitals, physicians, pharmacists, labs , but it's not everyone who is now in the space to protect this information which then puts it on the consumer to be that much more aware of what are the potential uses of this information, again because it is so valuable. I think the other thing to keep in mind with HEPA, is that because genetic information by itself, without a link to some other piece of information isn't necessarily identifiable. Again, depending on its context. Identifiable information is also not protected health information under the law, so the bottom line being is that we sort of have a patch work of protections here so when the question comes up for consumers, you know, will my information be kept private, the best advice that I can give people in this context is well, that depends. Who has it? Who is holding it? Is it linked to other identifiable information? For example, is is it part of your medical record or is it part of a research study where it's in a great big data bank? So I think we have some work to do in terms of being able to assure people that when they're getting these tests their information will in fact be kept private and secure, and that to the extent that there will be uses made for it to treat them or to help pay for their care, these are the ways that the data can be used and these are the ways the data can not.
Very good. Thank you for a very interesting first round. As the audience starts to think about what it wants to ask you about, let me, as promised, Jeff, let's go back to this issue of getting beyond your competitor, who is not nearly as nice a guy or a Company as yours is. What is your view as a private sector person trying to run your business and provide an important service to the American people? What is your view of the adequacy of oversight that can give a consumer, your mother out there somewhere, confidence that the test does what it's supposed to do?
That was a good question. I think, you you know, currently, the oversight for a test sold to an American is that CMS or ft did AV to have certified or the other ones who regulate the laboratory derived tests or, um, testing kits, and those are already in place. What we've tried to do is to emphasize that we're compliant in the context of CMS and the FDA, and whether or not consumers understand all of that, you know, that's a different story but we try to emphasize that there is a regulation that covers analytical and clinical validity with laboratory derived tests, and that's the extent of it, but it's a question that then becomes is there a need for further oversight or beyond what the oversight already exists, I guess it's a different question for the consumer.
Let me just ask, necessary it Carr, remind me for my information, is the report from the Secretary's Advisory Committee, with its recommendation to the Secretary, is that up yet online or depending on waiting for the Secretary's Office?
It's online.
Okay, so I would urge, first of all, I would urge all of the private sector companies that are doing this work, to review, if you would, the Secretary of Health Advisory Committee on genetics health and society, easy to find and look at the report on the recommendations regarding the adequacy of oversight and I think that the question becomes if private sector is convinced that there may be an issue hereof a few holes that we might want to have private sector come forward and partner with public sector to hurry up and plug those hole, and try to get this thing done. I won't say anymore as the moderator because I'll start to sound like what I am, which is an advocate, {LAUGHTER}, but I am concerned and I believe that this needs to get dealt within an expeditiously way and the Secretary's office shouldn't be out here trying to figure this out. Do you have a comment to make?
I do, and I think the private sector is stepping up to the plate and to some degree trying to figure out where the regulatory environment currently has left off and where the industry can try to help create guidelines and the best code of practices and things like that so I think you'll be hearing more about that but can I take a cut at your answer on do we have enough regulation for the consumer to decide?
Yes.
So right now, the unfortunate thing in this industry is that these terminology, FDA oversight, FDA-approved laboratory test, CLEA, these don't mean anything to the consumer. So, at did into at Direct we offer tests done in CLEA labs and with medical guidelines established and we put all of that on the site, but it doesn't stop a consumer from looking at another website for a genetic test for, I'm using a random thing, like, you know, male pattern baldness. It's something that may or may not have scientific rigor and looking at it and saying well, my assumption is that it's on the web, it should be regulated by the government and I think that this is really what caused California to actually step up with the letters being issued to a number of companies over the last two weeks. A question was are they providing these with medical oversight, are they doing it in CLEA labs but also this big question that ultimately all of these companies, all of us have to demonstrate SR the tests that are being offered scientifically valid?
Well, I appreciate the point and we'll get into some very interesting issues here. You sort of have to wonder, I was very much impressed by your slide of your test case that you're going to do on Alzheimers, to me that was pretty good. I kept wondering the level of education that the consumer would have to have to be able to deal with that. I mean, you're right there. You got the words. I'm sure there's an explanation of clinical utility. I'm still trying to think back to the so-called average American, it's like, you know, you've got to work your way through it so unless you can figure it out to know whether you're in a risk or not risk, at some level, it seems to me that this is legitimate and you shouldn't have the consumer sort of be lucky enough to decide whether or not you're on shakey ground, but let me ask you, when the people call you off and I'm not sure what population of people call you, what are they saying? Is there anxiety it on their part around, and I doubt it but let me just ask, reliability, validity and/or privacy. What happens in those conversations?
Right. I think that looking at the Yankalovich study, I have to say that our population has always beerefer referred to as rightly worried and these are people that have a known or family history of a medical problem and to answer the literacy question, it cuts across all educational, social st rata, and it's because they have an underlying concern about a healthcare issue and what they do is they read up and so believe it, when somebody has a family history of breast cancer, they're going to learn about the BRCA gene. Now should they all have to go into that level of depth? No. But for those who want to, they need to and they have to provide that. When consumers are approaching testing, they do it very thoughtful it. This is not a booming business of people throwing down $ 3,000 per testing for no good reason, believe me. People think through genetic testing. They think through the pros and cons. They think through the privacy issues. They think through privacy even in their own family. They want to know if I test, what does that mean to my other family members? Do I need to provide them with the information around the results? I mean these things have a lot of implications. They think through their insurance, what's going to happen if they have not yet had cancer or known anything symptomatic, and that's part of what we do and it's called counseling is to help people really weigh that and think through it.
Well, thank you. I must say that I was very impressed with Eric's example that he went out and Dr. Topol and did his own and looked at these probabilitys and you talked about probability and you made some decisions based on probability, and I continue to wonder how does the public know that these probabilitys are right? I mean, you're making, there's so much subjectiveness here for a person and at the end of the day, okay, it's 1 in 6. Well how do I know that's right? Who are these people saying these things and is there any argument about is it really 1 in 7, 1 in 8? Did somebody's paper disagree with Bob Smith's paper on that? How do I go back and actually know that? This is fundamental but Deven, as you look alt this stuff from a macro policy point of view, if you met one consumer, you say you've met one consumer. How does one then suggest to the extent that you would advocate for any level playing field or public policy, how do you make public policy when you have this range of not only genetic variation but personal decision-making variation?
Well, one thing is to consider that there should be a baseline below which, you referred to it yourself, the sort of baseline of either oversight, a set of sort of ground rules that all of the companies in the space that healthcare providers have to follow. That's certainly the pattern that we've got in terms of our own privacy laws in this country. There's the federal based side of HEPA, and some of the states have chosen to go beyond it and some providers even voluntarily go beyond it and then the ability of folks with all of the right information and tools and hints should be able to make decisions that are sort of very individually centric and be able to say, you know, for me, I'm okay with sticking my entire genetic sequence on the web. I'm okay with that. I'm even okay with sticking my name on the end of it. You're permitted to do that. But that doesn't, even if there is some variability in terms of consumer tastes and concerns, it doesn't, um, absolve us of the responsibility for creating at least a set of rules below which no one should follow.
Well the floor is open, and, um, I can't believe it but Kevin, um, is first in line and we can only go wonderful from there! And you'll be next.
Thank you, Kevin Fitzgerald from Georgetown University and also the Secretary's advisory committee on genetic health. A question which could be for any panel but since this panel is more focused on the consumer, I thought it was more appropriate here. People are talking about doing the goods, knowing doubts that someone wants to start a Company to do something wrong, orevil O or bad. So nobody is questioning that. The question is how do you determine the good? Who is good? Who is deciding what the good is, especially in a situation where we have such problems that we see all the time with research in particular with what we call therapeutic misconception. Is that concept familiar? It's basically someone comes into a Phase I trial, you go through all of the informeded consent forms, you sit down with them, you go through the entire thing, they go through the six months of chemotherapy or whatever it is is, they come out, six months later you go back and ask them, why did you go through that and they say because I thought it would do me some good, despite of the fact there was a Phase I trial. So, what, and again you heard before, this is probable, it's statistics, true. It is statistics but it's not baseball we're talking about. If you have a debate between whether batting average is better than on base percentage, that has some significance in some part of the world. We're talking about peoples health. Their own understanding of their well being and who they are. How do you address that concern in your industry? Do you address it?
Good question.
And if not, what are you going to do?
And our industry I'm not sure what you're referring to. If you talk about the need, the unmet medical need for risk assessment, that's a medicine wide issue, right? And a demand for that. That's the basis for why all of these studies have been done. That's what we're searching for here, right? Risk assessment , so it's not somebody just creating a new industry and trying to create a need that doesn't exist. There is a need. As I mentioned with prostate cancer, you have very limited information but you can help a patient decide how vigorously do you search for cancer? And the best treatment for prostate cancer is early detection so I would contend that actually there's more of a demand from physicians in the healthcare with this information rather than the industry sort of pushing it on to consumers or patients and physicians.
Well, okay, but that's still in a sense doesn't somehow give you the responsibility.
Oh, no.
Okay.
Responsibility to make sure the information that we trade is reliable, I think we described that, is it useful? Whether or not it's useful really is between the physician and their patient, right? Or guidelines among professional societys or whatever, and this information feeds into those guidelines, right? So it's setting an additional, it's adding additional risk to other things already being assessed and that may trigger whether or not you'd use something different with your physician. We're not telling patients what to do with this information other than act on it only in the context of a physician, right? We offer genetic counseling but we don't pretend to think that our genetic counselors will tell patients what to do with the information. It may help try to frame what this means, but it's really the physician is who can work together with the patient to act on that information, just as the physicians act on other risk information. It's just another clinical risk. Nothing new about that.
And then the issue from what you said earlier is how do we educate fat siingz to know what to make sense of it and upon what database does the physician make those choices? I think it really gets down to again as we get ready for a question, it's a notion of how much oversight does there have to be with heavy handed and government looking out for vulnerable people and lord knows that there are vulnerable people, this is a case of vulnerability versus having the industry at large, and we're going to put best practices, I think you use that word, Ryan, in your, in terms of industry standards best practices so you you don't have to have the Secretary of Health come in and ride rough shot over this thing.
Captioner transition. Please stand by for real-time relay captioning.
Ending point was somebody has to pay for -- does CMS with the active budget problems, start to say if you have this kind of mathematic on your slide, something like [indiscernible], put mathematics up, come up with a number, at what point should the public reimburse that -- how do you make those decisions, society struggling with real choices. At the end of the day, how do you, somebody who is an advocate -- don't wind up with --
I certainly hope not. I like to label myself as the privacy advocate who said in the beginning, I don't believe in using the word balance. I believe you can have privacy protections and advanced medicines to increase knowledge, grab on to the most promising information out there -- you have to really focus on both. Without consumer trust -- [indiscernible]
By the way, a highly technical --
It is.
I thought I would comment on -- point --
Tell us your name.
[indiscernible] the comment about the person [indiscernible] companies, different data back. We fully admit that is the case. Mari Baker and -- along with -- ha is something we are working on [indiscernible], neutral body, can bring in some of the other stakeholders who really want to have a voice in setting up standards. We realize that's a problem right now, need to work together, have to make certain [indiscernible] look at risk over 10 years, all come together as a community, decide whether to do this, conduct it that way.
I think that should be applauded and I will say you better really start moving fast. Because it's so necessary, that's responsible behavior -- last comment?
[indiscernible] two quick question, one for Jeffrey and three about the reaction of your -- when you brought -- whether you [indiscernible] employee of; next question for Ryan, more of a comment, but I question the appropriateness of having [indiscernible] perspective sheet, the last lab question about -- utilities. I think by including that question about would this information be helpful to you with a test that has very low predictive value in low [indiscernible] validity, I think that question im implies -- the [indiscernible] value of the clinical validity --
First one --
[indiscernible] position, I guess, although when it comes to, [indiscernible] neurologist is a more interesting, how his behavior changed, but normally somebody with -- [indiscernible], when it comes to this type of -- how do we educate positions -- encapsulate -- the different -- 35,000 different genetic association -- talking about, we're talking about this is a different era, Dr. Cope la does. Markers that -- not talking about articles that end up in -- the -- now is not much higher, admittedly --
Jeff, based on your -- what would you or she have said if the biopsy had --
Or was low grade.
Changed advice?
Absolutely, if it were a low grade tumor, no tumor, then of course, wouldn't recommend mastectomy -- that by itself --
[indiscernible]
I am going to -- the answer to his question about what a physician does with this information. We do [indiscernible] ought dis
While our next panel gets warmed up, your attention, please?
I know this has been a long day, we are getting tired, but we are down to the last -- want to get everybody out of here on time, get through the program. We will wrap this up at 5:30. I know people have airplanes to catch, arrangements, so help me by taking your seats so we can get started. I really appreciate it.
There will be some overlap here. This is a panel on what's available now and what's available in the future. It will be chaired by Nancy Johnson, senior public policy adviser at -- Donaldson. Background is 24 years in Congress. I heard a Congressman say it's working like dog years, one lasts as long as seven. Congratulations on such a wonderful career, long term interest in healthcare, sponsor, supporter for mental health, parity, bill of rights and taxpayer bill of rights, many awards, the national patient advocate foundation, as with other panels, she will introduce the other panelists.
Nancy Johnson: Thank you, we are the last, wonderful, presentations have been, I have gotten a lot out of my afternoon. I want to put this last discussion, in fact the whole afternoon's discussion in a slightly different context.
If we are to continue to see breakthroughs in medical science, speed the delivery of those breakthroughs to patients, if we are to provide access to affordable healthcare to all Americans, then we must abandon our illness treatment model of healthcare. Furthermore, if we are to afford the kind of health that science and universal coverage would provide for this nation, we absolutely must abandon our illness treatment model of healthcare. Over the course of recent years, recent decades, I guess I would say, we learned to keep a lot of people alive. We have fundamentally altered the kind of care that most people need. In so doing we have created what I call the 80/20 problem, some people say not quite, 75/25, it's the public system or private system, 75 to 80% of our dollars go to 20 to 25% of the people. That's because we are trying to manage people with multiple chronic illnesses, only after they get sick enough to go to the doctor, with an illness treatment model.
The good news is that in a reformed, a health and wellness enter centered model, patients have to be more active, you cannot manage someone's chronic disease if they do not want to you manage that chronic disease, because you can't take their medicine for them. It's very simple, but it's absolutely going to be a different system from the point of view of the patient. They will have to be far more involved in their health than they are now in their healthcare. That's the good news. The bad news is being involved in your healthcare isn't always easy. Further more we have never involved patients much in their healthcare.WeWe have told them what's wrong, what to do to get better, you cannot do that in a health and wellness system. This conversation about how we talk to people about genetic issues as part of this whole larger issue of how are we going to talk to ourselves about a patient-centered healthcare system in which truly the patient is a part of the care delivery system.
One thing I worked most on is the development of chronic disease administration, the hardest thing is how you get this into a fee for service system. When you look at what's happened you see all of those systems, the Collin system, telephone advising system we heard something about is something we actually know about, but we also know you have to change the way you talk to patients and constantly change the way you talk to patients, because patients are experiencing different things as they manage their own diseases.
This issue of how we talk to ourselves, the implications, something extraordinarily important to us, not just in terms of integrating genetic medicine into a more holistic, health-oriented care delivery system, because in that area more than almost any other area, honesty is hard. Transparens Iy is difficult, but if your communication is both honest and transparent, we will not be able to generate the quality health system we have the science and technology to enjoy. So I consider this an extremely important discussion we are having today, and I am delighted with the people we have on this panel, as excellent people all day long. There are different characteristics to these conversations, I talk to doctors who do pharmacogenetic testing for patients with mental illness, a specific relationship between the testing and the medical treatment, you certainly get one kind of response. In the larger arena, how do we make sure that what we begin to, how we begin to talk to ourselves, begin to handle this new knowledge in that communication does indeeds, deepen not enl the only the health knowledge of those who take the test, but the health knowledge of the general population, and deepen their ability to judge value from the kinds of information they are going to get in the future, whether it's about how to manage their diabetes or in this more complex, important area in what is the relationship between genetic testing and diabetes. If it comes to where there's a pretty good relationship, how does the government noter that, how does the private sector act? I am delighted with the people doing the big talking, we will talk with Ronnie Ron Ronni Sandroff -- [indiscernible] the new health website, consumer reports, health.org.
I am happy to be here, it's been a very interesting meeting so far. Someone asked in the ladies' room why it's -- we covered health, are best known for car ratings. The last few years, trying to apply methods for ratings, recommendations of products to rate more healthcare product, even to get into rating treatments, drugs, hospitals and so on.
It's not the same thing at all, but I think what is the same is our ability to commune communicate to consumers the relative value of products, dealing with relative risk is one of the hardest concepts, but it is what we do all the time. How do we evaluate healthcare service? We look at research, look to you for good summaries of the research, we don't do it ourselves. We are also aware of something I call floppability, we do an overturned health truths, never at a lack for material. We have done estrogen, I could go on and on. I am concerned about the genetic test results today, what will they mean in five years or five months. I am concerned, as many panelists have raised, the usefulness, both medical, I think there's usefulness if there's good predictiveness, but not much you can do with that, information. The thing that really attracted me to this meeting is prediction from the organizers there would be an explosion in direct to consumer advertising for genetic testing. I am very concerned about the power of DTC adds. In the pharmaceutical area over the last 10 years, perhaps good education coming from the farm a ad pharma ads, how many times a day are you told to ask your doctor about might not be an issue for you, or [indiscernible]
The point Ryan made earlier, people will assume when they hear these adds they are on the up and up, assume the results are valid, the government has taken care of it. We have surveyed, many people have surveyed consumers about the use of dietary supplements, an amazing amount of people assume the FDA checked them for safety and efficacy, after all, they allow them on the shelves, to be advertised on TV. That's an area we will be watching. Great thing about working for consumer reports, we don't take ads, so we can criticize your ads. We will be watching that. I was asked for this panel to, as looking to the future to come up with cases. We do this in publishing, try to imagine the consumer, two consumers who in maybe two years, three years might be attracted by direct to consumer ad to get their genomes tested. My first victim here is Adam, 42, a bit of a health nut, wants the best of everything. Both his parents are overweight, have diabetes, heart problems, on multiple medications, and he's already exercising and dieting and doing everything, but he's gotten a promise he will get customized advice about how to lower his risks. My questions to the rest of the panelists is, will that promise be fulfilled? Is it worth his $1000?
Going a few years, jack and Jill are both 32, just engaged. She has a brother with autism, he has a family history of type 1 diabetes, doesn't have it himself, having their whole genome tested and scoured for risks. Will it give them useful information about whether to have children, if they decide to adopt will the adopted children be screened for genetic risks? I am not sure, but I am very interested.
Thank you very much. Our next panelist is Angela Trepanier, a certified genetic counselor, at two universities, currently the president of the national society of genetic counselors, leading the organization, chief spokes man, it's a pleasure to have you here.
I will not answer your questions, but present my own cases for consideration. I want to make the point that for personalized medicine to have promise you have to have a personalized approach based on the patient. I will start with Alice and Mary, both of whom had a father diagnosed with diabetes in their 40s. With Alice's case, father diagnosed after routine physical, elevated blood glucose, managed through exercise, diet, medication. Proactive about the way he bhannaged, the message Alice got was diabetes is bhannagable, you have to do things, very reasonable things to do to prevent complications from the disease.
Mary, on the other hand, her father diagnosed after being hospitalized with severe elevated glucose and -- acid owe sis, almost died, seven years old at the time, remembers that critical event very well. Her family is Italian, diet consisted of pasta, meat sauces, not a good diet for diabetic, her father was obese, died at the age of 65 from congestive heart failure, associated to diabetes.
Their needs are going to be very different. Alice you can classify as a lead the way people. If you have a condition, risk, you manage aggressively, and it's easy to do that, she's dieting, exercising, and might present for genetic testing, genetic counseling because she wants to know what else she can do. She's scoured the Internet, found out about genetic testing available, down the road when we know what the value of the information is, when it's coming from one of these tests, not only does she want to know risk, wants to know if there's something else she can do. Happy to diet, exercise, but wants to take it to the next level.
Mary is referred for testing and counseling, her primary care physician is frustrated, she's overweight, he's sending her to get information in hope it will trigger change in her behavior.
So the approach you need to take with these two women, men, whoever it is, is going to be completely different. Alice, very proactive, done research, coming in for information. She wants to be proactive. With Mary, if you don't deal with the anxiety she has about the diabetes in the family, figure out why it is with the assistance of other healthcare providers she won't comply with diet, exercise, what prevents her from doing that, giving genetic test may not provides any help whatever. You have to take into consideration the person presenting, and their concerns, what they are capable of doing.
For both woman you have to present the information you are provide providing in a way conducive to learning. Some are visual, some oral learners, some want face-to-face, some want telephone counseling, some want Internet, some want written materials. All need to be provided if you have want someone to benefit from genetic testing and counseling. You want to make sure, in this example, two people with a family history, a context for the disease they might be at increased risk. There will be a lot of genetic tests where there's no family history, all of a sudden someone is told, assuming it's incredible information, increased risk for something they have no experience with. They need something more than your word to make them believe that information is valid information.
We need now to get ready for genetic testing, start to educate about the broader applications of genomic testing, not just about single gene disorders other people have, it's chronic disease z any of us can get and include that in health classes and text books, and also and most important, that all healthcare providers are educated about the availability, validity, credibility of genomic tests. Meeting with a coups counselor telling what to do is meaningless if you don't get the same information from your healthcare provider.
You can see how the healthcare system has to change. Katherine
Katherine Johansen -- including the -- genetics of common disorders and translation of genetic technology, in the clinical setting.
Katherine: So, like Nancy said, our main focus at the AMA, program on genetics and molecular medicine is to provide educational resources, support to physicians as they integrate genetic technology into clinical practice. Because of this area, the genetic testing area has exploded in the last few years it is an area that has become an area of interest and concern, even, for the AMA. So recently the board of trustees of the AMA decided to study this in a bit more detail, and recently set forth policy on what the AMA feels somebody the next few steps in dealing with direct to consumer genetic testing. So in 2004, when our old policy was established, the health of the AM Addell gats, the policy setting chamber of the AMA really decided to generally oppose direct to consumer genetic testing. One can imagine there were many reasons for that and probably one of them is something we heard a bit earlier, that there's an old-fashioned view that physicians want to be the sole source of health information, don't want to give that up. That is possible that that was the case, but I think physicians understand genetic testing is here and needs to be dealt with. Our recent policy-making meeting in June, new policy was adopted which really still encourages patients or consumers to can come to their physicians with questions, but doesn't blanketly oppose testing. The AMA encourages consumers with questions to come to their physician, and addresses advertising, something we haven't really talked about yet a lot.
A lot of the information that consumers are getting about direct to consumer genetic testing is through advertising. One concern that physicians have is they are getting truthful information in that advertising, since that advertising is partially what drives consumers to decide they want to take this test. So the AMA along with other organization would like to come up with good criteria for direct to consumer advertising, to make sure the advertising is truthful, not misleading, presents a fair balance of the test capabilities, limitations, so the consumer, and all at the consumer level, so the consumer really understands what it is they are about to undertake.
The policy also advocates for education of physicians, and I think this is going to be key to making sure that consumers know what to do with the information once they have this genetic test.
The problem that we have seen, however is there are some physicians not ready to deal with these test results when their patients bring them in.
We realize we are advocating for physicians to provide education for patients that come in with these type of tests, but we need to make sure the physicians are knowledgeable, first in basic genetics, which is not the case sometimes, and need to make sure they are knowledgeable in how to interpret a genetic test. So I guess the buoyant of point of this panel, what kind of resources do consumers need? I will take a step, different tack on that, ask what is it the physician can do for the consumer, if we are indeed advocating that fwgz physicians should be a souse source of information for patients who want to take the testing.
Before that even can be answered the physician has to understand some intricacies about the test. The physician first has to understand whether a test is even indicated for this patient. That hinges on a basic knowledge of genetics in the first place The physician needs to be able to tell the patient whether a test is worth getting; is there scientific evidence this test is worth getting and will it tell the patient anything. That goes back to the physician being able to understand what the predictive value and utility of a test is. Then the physician also has to be able to use results that a patient might bring into them, to come up with a therapeutic plan. Again, that gets back to does the physician know enough about genetics to use that information in the context of other health information of that patient to come up with a therapeutic plan for that patient? In the future I think we are really going to see more and more of this direct to consumer genetic testing. That underpins the need for physicians to be educated a bit more on this topic.
We also need to make sure this is not a question of physicians just wanting a piece of the pie, not wanting to let go of that power of being able to have the control over ordering a genetic test e. this is something that really does have the potential for benefit for the patient, if done in a proper way. If we can convince physicians to accept this information, understand whether they should accept the information, when a test is actually valuable, when it might not be, we might be able to actually give physicians another tool in their arsenal in diagnosis and therapy.
Thank you. I remember the discussions, conversations that didn't have a clear to-do list, that is hard.
Mare Mari Baker is currently at -- before that she was president of the Baby Center of Johnson & Johnson company, the website for winning numerous online awards, expanding offline and internationally. Equally interesting is her work as Senior Vice-President at intuit where she was product manager for Quicken and led its growth into the number one personal finance product, expansion of quicken.dom, comes to Navigenics.
I am currently CEO and have been since early on, had the opportunity to be involved with the company before it got funding from investors. The vision of the company, our founders, Dr. David Acre and stiffen -- the line of thinking Nancy used in the introduction, that there's tremendous opportunity to use genetic information to improve health outcomes, identify people at risk for disease and begin to have them work with physicians to identify potential courses of action, if relevant that can be taken to prevent or delay on set of disease. The question of usefulness of this data today, first we look at some of the data we have back from our early participants as we developed the product, nearly half the people, 46% of the people who had gotten results participated in the study, indicated they had made a change in daily life as a result of having this information. Genetic information does in fact create a teachable moment for people that can lead to changes in diet, exercise, visits to the doctor, working with their doctor to look, see if they need follow-on tests or changes in medication. It causes people to think when there's an issue identified with cause, causes people to think. A story to share is an early customer we had who identified a high risk for colon cancer, previously had none of the known risk factors, a BMI over 30, predictive odds ratio of 1.7, to wards colon cancer, being a smoker family history, 2.24. She had no one none of these situations, yet genetic data came back showing a high risk for colon cancer. When you look at the SNPs that we're using for that condition, odds ratios of 1.47, 1.37, and 1.7 being as good as any of the classic factors, taken together provide a 2.54, as good or better than a family history. So she took this information, talked to her doctor. Her doctor, in consultation, again we find our customers will do, find something they want to do something about, they will talk to their doctor about it, which is the right next step.
They decided to do a colonoscopy, where they found a 1 and a half CM polyp, which she got removed, is now going to be on a path of being able to watch for this in the future and the important thing, if she was 39 years old. The normal standard practice of medicine would be not everyone offered a colonoscopy until she was 50 and who I knows what would have transpired in the following decade with the polyp that hasn't been identified. It's a story like that, that we believe to Katie's point helps provide an additional tool in the tool box for a physician to look at the patient in front of them, look at information they know about that patient, and the additional insights genetic information can provide to determine a course of action. We have heard about a income number of those here today. It's evident the data, given the nascent nature of the industry, many of us here today, there are real examples of real people deriving real benefit from these services, and there are absolutely real issues these companies need to grapple with. We are working together to grapple with those, come up with solutions, but there's real benefit being delivered and real usefulness being delivered today.
We will open it now to questions from the floor. We can circulate the microphone. Back in the back.
I am Jeff Luster, board certified internist, doing genetics fellow ship at University of bheam Miami. Doctors sitting down, talking to patients, with doctors, primary care doctors, pediatricians, internists seeing 10 to 15 patients a day, how they manage this information, it's important to remember, understand, doctors, internists, pediatricians care about a couple of things. What is the diagnosis for this patient? What tests do they need to order to get the diagnosis, what drug do I prescribe to the patient to make them better? And also, am I going to get paid for this service I am providing. The key issues they want to know. Then another question they have is, if I, the person comes with a print-out from a company, a 25% lifetime risk of getting breast cancer, and they get a bilateral, radical mastectomy, and years later find out the risk is only 15%, am I going to get sued? Lose my practice, medical license, because I sit down and talk with them. Is the information I am giving good information, something that can be put out in the next 10, 1520 years for them. When somebody sits down, we have to make sure the information the doctors have is a quick, easy, succinct information, almost impossible to do at this point. There are thousands of diseases out there, but having a one or two-page synopsis for that patient, that disease, is what the primary care doctor wants in order to make sure when they talk to somebody they are not spending an hour trying to figure this out, that they have something very concrete to talk about, to make sure they are effective and give good information, but do do it in an efficient and effective way.
You are right. The current system is set up that way, and that's the way doctors have to work in order to get paid and protect themselves from malpractice suits, so how do we get from here to there? You can't with today's level of knowledge. We just don't know enough. What happens is, people will, through their own free will, decide to do this. What the scientists learn in the lab, all the schools of medicine, groups all over the country doing really remarkable work, a credit to HHS they even thought of having this meeting today, and in the fall in Utah they are going to get communities together that are working on translating genetic information, genetic research into medical practice, and from all those things we as a society will begin to know different things. Then we can translate that into payment policy, and into hopefully, liability law. But, it is a process, and part of the reason electronic health information technology is so personality, it begins to build teams of communication, multiple members around this kind of issue is critical to a good outcome.
You might ask how I site goes about making major change. Knowledge and experience lead change, it's very important for us to do these conversations, and for them to have good communication with the government, for FDA, other regulators to not jump in, regulate, without a better understanding of what you are doing. But, fundamental, and this is something that really is different about todayee world than five years ago or 10 or 20, the pace of change is so rapid we have to accelerate the communicate between the private sector and what's happening in this kind of area. The regulators and solpolicy makers, because they will regulate the way they have the world of the past. If you don't want that model, then we have to move, but we can't move without constaptly keeping in mind the points you made about today's world.
I found, you look at chronic disease management, nobody reports on it, but the dynamic of the conversation that develops, both in the communities where electronic records are widespread, a team sport of caring for people, and also where chronic disease has been the focus, it is a different dialogue. It is a different team. You see this in the big system, Kaiser, Mayo, some of those. That has to spread, but this conversation is part of that and we can never forget the now A knack Ronistic barriers, treatment, and the old liability system that represented a different kind of thinking. There was another question here?
I have two questions, one more wacky, one more serious. You decide which is which. Why, first question, why have academic health centers stayed so behind the private sector in incorporating genetics into healthcare, particularly in the areas of risk early intervention, and prevention? The other question, everybody is using this nice case study, I will give another case study for 2018, Mary goes to a dinner at her boyfriend Joe's house, gets there, the brother is autistic, brother had colon surgery at early age, no symptoms, and there is a second cousin once removed who is bipolar, he's driving her back home, he asks about the family, wonderful people, like your family, but I am 37, I don't have a lot of time to waste here, and therefore before we go on dating I want to see your genetics profile.
What should Joe say to Mary?
Mary?
That wasn't the wacky question? I think that part of what you touch on is this notion that at some point, the point has been made today, at some point in the future this stuff is moving along, we will have these sort of insights into what's in our genes, and hopefully if a move was made on colon cancer IT would be because a physician believed that was the right thing to do, to do any sort of surgery on anything requires a physician with a thought process saying this is an appropriate step to take.
There's a wide range of issues that go on, including, back to the prior comment, about not only do we have to get people on electronic health records, which still are not uniform and universal in this country, we have to combine health records with family history, with genetic information, so the decision support systems are in place to be able to give those insights and red flags, questions for physicians to know and think about interacting with patients. These are all things to put into place. The question of what Joe answers back to Mary is more fundamental, why we meet our in-laws we still get married. Probably falls in the similar bucket.
Question: I move to tell my own personal story, which is very briefly, according to 23 Me, I have a very low risk of colon cancer. I put this in the blog, for what it's worth, yet I happen to know I have a high risk. Bhie My father has polyps, she or fore years ago, I had a polyp, remove said, for practical purposes I probably have a 98% risk if I don't continue to get checked, or die of something else first. The point of the story and me putting it on the 23 and Me blog, what needs to happen, people need to understand statistics and probability and risk. That's really tough. The way they are going to understand it is if you have the early adopters, people really interested, guys with $1000 and more, doing this now, and understanding what it means, doctor which in many cases is little. It is difference between a 52 and 42 is meaningful not for the individual, your risk is 100% or zero, you only know after the fact. For people to understand what it does and doesn't do. Will help them probably pick better drugs, better treatments, but a risk is only a risk. Nobody can tell them if they are going to get it or not. Unless it's something completely predetermined, that's what we need to teach society. The way we do this best is by having the discussions, not among people who already know of this, but the pages of New York Times, public hearings with the state of California, in not just the New York Times, but the Bloomington gazette, and people with apply, just like football scores, sounds intuitive, needs to become that way.
In other words, in another arena, what may look like danger is opportunity. California and -- are opportunity --
I want to say what would really be exciting for consumers would be to get a genetic test, find out you didn't ever have to have a colonoscopy, something you didn't have to do, didn't have to worry about, and I think people -- that's the implied promise. Everybody is shaking their heads who knows more than I do. That's never happening? Right?
Only will find out you have more things.
The issue is these tests all try to be clear there are environmental impacts and genetic impacts. That's one reason we have all tried to present information in a way that helps people to know, even if there is a lower genetic based risk, you still need to pay attention to the other risk factors, things, because there's two pieces to the equation.
They won't get the same one their mother died of, it's a big deal, it's an average risk.
I was at the U.K. human genetics, same subject, dret to consumer, in the British press the first couple to have PGD for BRCA had happened. I don't know if that made it in the American press, but that's a big deal. Fast forward on the case study, where will it go? It will go to PGD.
Here?
Mike -- American Academy of Physician Assistants. We talk about patient care, it's important to include nurses and physician assistants, we partnered with the genetics community, the national human genome research institute to -- educated in genetics we are talking about Tuesday. Physician assistants will. Talking about the other 40 to 50 million people who don't know the have healthcare, we have to balance out an every day reality of patient care. We are moving very quickly into forgetting about the challenge of every day medicine. The Navigenics, type of patients getting direct to consumer testing are typically an educated population, it's a biased population and the type of information they will get. What do we do for the patients that obviously we see, cannot afford genetic testing? What do we do? We write prescriptions and they can't afford the prescriptions we write. Bigger challenge. I realize the importance of what we are talking about, but we are forgetting about the every day population.
Don't forget that currently risk does drive payment policy. We pay for mammograms for women with history of breast cancer, other things, very embryonic, a different kind of analysis of risk. The more you begin to know about genetics, and the more the testing turns up more increasingly uniform results, that will reflect itself in payment policy.
My specialty was oncology. We evaluate patients with cancer, it was imaging, x-ray, CT scans, now everybody gets a PET scan, spending 5 to 7 to 8,000 dollars. Something wrong with the system. Nobody questions the system of raid you logical imaging, here we can't get past genetic testing. We have been spending years sitting hearing committees talk about genetic testing and the treatment of cancer has moved to the cost of what it costs, it's huge, but we can't do basic genetic testing.
In the number of years we learned about where the costs are located in the system. If we could weed them out, use modern science to move us forward. It's not hopeless, but I certainly recognize today's system doesn't differentiate between appropriate care and inappropriate care, or needed care, unneeded care.
We have to pass a law to get some type of preventive testing done.
It shouldn't be that way, but that is the way it's been. If you develop a health system it won't have to be that way anyway.
We have to make special provisions for prevention. As you change the laws in the system you can get away are from that.
Can I make a quick comment about a few of the questions I have heard?
Sure.
There have been some related questions and Rocky's question brought it up again. The question about why there is really slow upa take of genetics in some medical centers, and also a comment by a physician saying that they are very time constrained, don't have time to do this --
Questions or answering each other. There's been slow uptake, number one, because physicians don't have time to add, especially primary care physicians, so time constrained, don't have time to add a fancy new test to their limited five minutes with patients and will not until they see evidence that test actually impacts clinical utility. That evidence isn't there yet. There might be hints that evidence is there, but until that is shown I think that might be a shove in the right direction for physicians to start using that information; the genetic information. So I think rocky's point also about who is going to pay for patients that don't have healthcare, that's another question physicians have to confront when they think a genetic test might be appropriate for their patient. How will they say I think you should get this test but it will cost you $ive phoned, I don't $500.
Do our medical schools, they even training doctors how to use this information?
That's a question.
The answer is pretty much no, isn't it?
[indiscernible] there are some movements in some parts of the healthcare world, like the physician assistants, nurse practitioners have been very good about integrating genetics training into the curriculum, medical education is hard tore crack. The exams, qualifying exams, other exams that are lodge along the way set very far in advance. It's hard to change the questions on those, because of that it's hard to change the curriculum that is taught in order for the students to be able to answer those questions. That is absolutely something that needs to be addressed.
We can change that, if we choose.
I would like to make a series of statements, see if the panel would like to comment on, like a sweeping generalization of the field of personal genomics, see if you agree with my assessment or not.
I say that with passion, I don't want to see the person with genomics to suffer the same fate as total body scans had a few years ago, when there was a craze, people went in, had ins procedures, some not, we heard anecdotes about the usefulness, or not, potential harms, benefits. The way I look at the field right now, it's in a state of flux. The moment where what we need to do, in addition to discovery research, finding new genes, risk factors, do the translational research to allow that kind of information from both clinical validity and perspective to be shown, the balance of harm and benefits, through clinical trim trials that need to be done. This unfortunately will take time, and money, but we are spending billions of dollars to do the $1000 genome, if we can come together to do trajz trarchz translational genomics, the system that is already crumbling under its own weight, we may be suffering the same fate as other technologies.
I don't know if people agree with that's what assessment, but in the meantime clinical validity is low, it's probablyistic, 51 versus 47%, could be misleading, some information is not in the genome. We need to look at the benefits, the balance of harms and benefits, and we all think there could be benefits that could come out of this, but there could be real harms, especially if implemented on a population basis.
I don't know where you draw the line in determining when the technology is available for primetime, but I do think that if you offer it pro maturely when there's a lot of flux, variability in the results, you stand to lose getting consumers to buy into the technology. If you use technology prematurely, results change dramatically, people will start to think it's not goods technology and might not use it in a few years when it is. Goes with what you are saying, right now is time to build infrastructure, find out the questions. Not saying don't do it, but people need to know what they are getting into, and the limitations, presented in multiple ways. Even if you think you are presenting information in a way that suggests -- this country is horribly low, we have to be careful on how we proceed, and we needs to keep in mind if we lose consumers, when the promise is met in the future they may not want to use the information. That would be a tragedy. I think this information in the future will help us cut healthcare costs, there's tremendous promise.
A note on that too, it's a little of this discussion of how can we make this more accessible to people, yet we're not sure broad populations know how to deal with physical data. One might argue, for now, having these services, at a relatively high price allows the opportunity for learning, knowledge, education among an educated audience who is paying for this out of pocket, and for us to be able to learn these issues as we move along. One of the things pointed out earlier is an example of something having taken multiple tests from different services, getting different answers. It's not that people are calculating things differently, certainly the case, but underneath there people are using different SNPs to determine results for a condition. Those things clearly need to be standardized. The ability to be able to look at this information, and see these differences, enable us all to work together to come up with these industry best practices and be able to move forward on this. I think the question on the translational genomics, we would love to see that work done, love to see clinical studies done around all these points. But we shouldn't forget the medicine changes as well. It wasn't that long ago when in some case doctors were advertising in smoking ads for cigarettes. Look how long it took us to decide smoking was actually badz bad for you. It took a long time for mammograms to get reimbursed. Some of these things take a long time, and medical knowledge changes, science knowledge changes, it's something that is a fact today, will continue to be the case. This makes it more transparent. These services help people keep up to date, this information. There's a value in that for people to know that they will always have the latest, rather than being subject to things tested 20 or 30 years old, not updated.
The best protection against that danger, which is real, I would say, is for the private sector and the public sector to work together more aggressively than we have in the past, when new things came forward, and in a more intelligent fashion. So the industry, if they have any sense, won't indulge in an explosion of direct to consumer advertising, particularly, and will use the New York and California experiences as an opportunity. An opportunity to talk about what they are doing, opportunity to work together to get more standardized tests and talk about the need for that. Transparency and openness, and directness will save this industry. If there isn't that kind of openness, it will erode trust. We are talking about, among enlightened people, the top level of consumer users, not only can they afford the $1000, but they are interested, care about their health. Talking about the people who would be panicked if they knew they had any propensity of any disease and aren't prepared to differentiate between the levels of risk. What could be a better forum than the two biggest states in the country, at opposite ends of the country to help the public think through what you gain and the risks you take. Unless the private sector better understands this issue of public education, then in today's world, with the volatility, and the simplification of messages typical of every kind of media, we will lose the opportunity in this area and we won't have the opportunity again for five or ten years. We have time for one or two more questions.
I will be quick. It's about medical education. Data, through the end of 2005, 15% of medical schools, reported by their deans, teach no genetics. Of those who teach genetics, 17% teach less than 60 hours throughout the four years of medical school. You could argue, good, bad or indifferent, what Mary said, the key piece, it's a changing field. One of the key issues that was meant to deal with the changing field is continuing medical education, and 48 states, I believe have CME requirements. Over the last 10 years one key thing AMA and others were involved in is requiring most states have five to 10% of CME hours on risk stratification, to look for abuse, other challenges in the home. What about the idea of using, and I could have a point of view here, the idea of using the CME process as one that acknowledges the world is changes, we can't teach everything in four years or two years of medical school, and expect those physicians to be up to date, 10, 20, 30, 40 years later, but using a system that exists with potentially some requirements around a percent of that is on genetics, emerging technologies.
As I look, I guess this isn't short, but I hear something that came up on every panel today, doctors today, healthcare providers, starting with physicians, need to be able to lead the way. Whenever you get to personal genetics, you can't dot colonoscopy yourself, write a prescription, one organizing effort I thought, educate providers in a better way for any part of this industry to become fully transparent.
As so many other things, we know more than we think. [indiscernible] we could inject that into the medical fields more rapidly if we cared to.
I think that's the right point. We have attempted to make a tiny step in that direction, but that one tiny effort, the result is emblematic of the interest, gaps that exist in the space. We funded Medscape to create a CME course in personal genomics in the clinical practice. They founds somebody to develop the course, I think it's 25 CME credits, not huge, but reasonable. It's something. In the first, data through the end of May, went out in late, last couple weeks of February, three months of data, over 5000 Medscape, healthcare professionals read the course, and 25 completed for credit. It's acknowledgeably a small simple first step, but shows the amount of interest of healthcare professionals in learning about the information, and the benefits of online venue to make it easier for people, which Medscape is, for getting CME credits. To have access, and get the learning they have time available.
Last question.
Quick question, I am Paul Miller, I am a law professor, and professor of disability studies at the University of Washington in Seattle, also a member of the Secretary's advisory committee. A side conversation we had a couple of conversations ago about PGD, where all this information is going. I think one of the underlying, and put on the table an issue, the underlying underlie assumption with all this is information is good, we are talking about conditions that today or in the future somebody can do something about. These are health out comes. Another perspective from the disability point of view that people with disabilities, that parents are going to, others are going to begin to look to genetic anomalies, genetic disorders and take those out of the system, reduce preganacies of people with disabilities. That's something that both the genetics community, physicians community, others interested need to be aware of and think about the impact on people with disabilities, both as members of society, the support of social services, government services program, and the relationship between PGD and genetic anomaly identification and pregnancy and birth. It's an important issue and I wanted to put it on the table.
Thank you, and to the panel for bringing their rich experience to the table. As we conclude this day's discussion, thank you very much for your continued [indiscernible] APPLAUSE.
We have another quick round of applause for all the panels. Pretty terrific day.
We are going to wrap this up quickly. I will make a few comments, turn it over to Dr. Greg Downing who started the conference and will end it, we will be on our way. To look at the future in this field, and I think very clearly as we talked through this day, much of our future has arrived, it's just lumpy, hasn't arrived every where at the same time. Elements will effect our profession for 10, 50 years, we see them, know what they are. The day was centered around a convergence of thought, from the point of view of consumers, potential of genomics, divergence among the group over issues about regulation, oversight, what drives this is the research and science that should drive it, is is it the market, both? I heard recognition on several things, risk communication, and effective communications, not only within the profession, but with patients, will be key to whatever success comes out of our efforts. That there are very divided views on privacy, very grave concerns over both privacy and the reliability and integrity of information.
There were additional concerns about the engagement of healthcare providers, how do we bring this future across our healthcare establishment. There was a big question, what's good enough? When is something good enough to be in the market, when is it not?
I heard that laced through this conversation all day.
If I could sum this up, I would say what we have here is a clear and predictable evidence of growing pains for a science moving very fast, becoming, turning from a science into a young industry, and trying to figure out how to handle the risk, the science, the motivations, the markets, the trust, that have to be successful, come together in a system for all of this to be the benefit, to have the potential we all described at the beginning, thought we saw here. I still think we do.
Two observations. One, I am proud of my profession, proud of my fellow healthcare providers, and the scientists, and the interpreters who have come together, had a very frank, open debate with a great deal of passion, sometimes sharp differences of opinion, but all done in a manner of most admirable mutual respect. I asked for no hitting, there wasn't any, you followed orders very good. I am so proud of you.
I did not hear the word ethics mentioned once. I heard regulation. I heard governance, I heard market, science, the facts, I never heard anybody talk about the ethics. I throw this out for thought employ sometimes we have a tendency to take a sfiveg advance, make it work, and then we put it in a market, or take it to people, and then, after a while, then we start figuring out the ethics. We often don't figure out the ethics first, we figure out the ethics after the government has come along, the third thing in the -- sometimes not thinking these important things through. We are now reaching a point where the complexity and power of our science is so overwhelming it almost butts up against the level [indiscernible] human beings. As the community goes forward the idea of developing an ethical framework as you developed many other frameworks around the other issues might be something to think about.
Finally E all the thoughts here have been captured. We set out to have a conversation, we did that. I think my analogy to the Manhattan Project, importance of the dialogue was not off at all. I am more convinced of its appropriateness now than when we started. This will be of great value to everyone concerned, and let me ask you to give one more round of applause to Greg Downing who put this gig on and I will turn the floor to him for his remarks.
Thank you, Michael. I think we have a small team of vested futurists who worked with us, how to facilitate a conversation that is at times uncomfortable. Appreciation for other viewpoints is where we leave it today, exhibited here. If it we come back in a year we will know a lot more about this terrain. I just wanted to finally thank Mike for helping work with the group that came together today. Obviously a lot of thought given to your remarks, and the appreciation we have for being able to have a candid discussion about our own viewpoints is an important thing to start with. I think from the department's viewpoint there's a lot more work to be done. We have certainly been leaning on our advisory committees in a variety of ways the past several years to develop boundaries about which the conversation and actions that take place go forward. We will do that in the form of a summary for this meeting, posted on the website, certainly the materials from this will be available to those who wish to utilize them for their work going forward. I want to thank all the speakers, again, and from Rick, everyone at the department, we appreciate everyone's engagement and hope it builds on the fop daigz about openness, transparency, engage. You had to ask critical questions about whether we are doing things the right way for the people here. Thank you for your time this afternoon. We enjoyed the opportunity and hope it has been a value to all of your efforts here as well. Thank you.
APPLAUSE.
Blach