Event ID: 1949839
Event Started: 5/21/2012 5:54:02 AM ET
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Good morning everyone. I will hit the gavel and bring to order this is that the meeting for the national advisory Council for human genome research. In a couple minutes you will see why things are a little bit different how we're opening up that morning but before we get to this I will turn it over to Mark. Have to deal with routine business.

So the first thing I'd like to do and I'm not sure I'd characterize it as introduced new councilmember. Tony Monaco who is the president at Tufts University and we are grateful he is willing to share some of his time as we are grateful for all the rest of you. So welcome Tony.

Be liaisons -- to the council. Who many of whom are familiar to you because they've been here before but not everyone. Joe Bockman from the American Society of human genetics. Lane to rally national Society of nurses and genetics is joining us via webcast. James O'Leary from the Jenna added -- genetic alliance. Rhonda Schonberg from national Society of genetic counselors is by webcast. And Mike Watson from the American College of medical genetics.

There are two new staff members in our -- I'd like to introduce. One is did Mac -- [ Indiscernible ] who joined us as a program analysts. Can you stand up? And Gina has the money to has joined us as an advisor genomic medicine. A couple of the gas I'd like to introduce. From the American society -- molecular pathology Barry Williams. And Melvin [ Indiscernible ]. And from life technologies company Jamie Rupert and Heather Byrd on. And Francis [ Indiscernible ] -- I can't really read your Association. International medical news group. And there are also several additional gas who we're going to let Eric introduce. In just a moment.

Two other things I need to do. One is to get the minutes for the February meeting presented. Where they distributed? Okay. I didn't do them this time so I'm lost track of them. Are there any comments or corrections or additions to the minutes? If not, can I have a motion for approval. A second. All in favor. Anybody opposed? And then last thing I will call your attention to the future meeting dates on the agenda we have listed the meeting dates for the next six Council -- next two years of meetings. If anybody down the council has anything to tell us about that please let either me or [ Indiscernible ] no. And with that I will turn it over to Eric.

So good morning everyone and I would like to start off this ocean session of the NATO NATO meeting of the national advisory Council for human genome research with something different. I specifically announcement that I believe you will find quite interesting and exciting. I've been at the national human general research Institute and the National Institutes of Health for almost 18 years. I modestly overwhelmingly proud of NHGRI and the NIH more broadly. And being a DC local, many times marvels at the Smithsonian institution and its impressive collection of museums and research centers. At the same time on many occasions I've wondered -- wondered why there is such in a ratchet between these two local Mac is both of which have incredible international reputation. A particular relevance and NIH the Smithsonian national Museum of Natural History showcases much of the science that is irrelevant to our biomedical research pursuit. And that Museum and NIH Main the best campus are separated by less than 10 miles. Why are examples of the substantive collaborations between NIH institutes and the Smithsonian so few and far between? Especially in light of our close proximity and there is significant intellectual overlap and their shared interest in scientific outreach and education. While NHGRI has is that -- decided to address this question in a serious way to make an important move to reverse that historic trend. To set the stage for what we're about to announce I would like to introduce several special guest to join us this morning. First is that Ms. Elizabeth de Gaulle who is the associate director for public engagement at the Society and national Museum of Natural History. She oversees all the exhibition development as well as education outreach and other programs at the museum. Just had an impressive professional career that you can review and we've set up a link off of the website for this Council's meeting that should've just gone live that has various information. Our second guest we just arrived as Dr. Jonathan [ Indiscernible ] who is associate director for research and collections and also a senior curator at this facility and national Museum of Natural History. He represents the news and scientific interests and today's announcement and began you can read about his distinguished background at the same website I just mentioned.

Arbogast is another Virgo who is head of corporate giving for life technologies. Corporation and also manages the light technology foundation a nonprofit arm of life technologies Corporation. The life technologies foundation is dedicated to advancing science education and changing perspectives on how the application of biology and address societal need. Into to go the foundation supports or brands that accelerate the adoption and understanding of genomics and healthcare. She is more than 20 years of experience working for nonprofits and community relations. While welcome to a preview and things are coming and it's a pleasure to have you joining us at this amount -- announcement this morning. With great enthusiasm that say we're formally announcing a major you -- major new partnership with the national Institute of health and at -- NHGRI and this is funny and -- Smithsonian to create an exhibition on genomics and the human genome. Early in the summer 2013 the national Museum of Natural History will open at approximately 2500 square-foot exhibition showcasing the field of genomics. By particular emphasis on the human genome. The exhibition will be located in the museums all Number 23. That's easy to remember so that the number of pairs of human chromosomes. Now in development the exhibition is expected to include a number of organizing teams including the genome menu, the natural world, and helping humanity. They're also be elements that touch on all of those -- evolution and the expansion and exploration of the ethical legal and social obligations of our burgeoning genomic lot knowledge. The timing for the opening of this exhibition is not accidental. April of 2013 will mark the 10th anniversary of the completion of the human genome project which gave us our first detailed view of the human instruction book ergo that month will also reflect the 60th anniversary of the Watkins description of the double helical struggle -- structure of the neighbor of this new exhibition and affiliated activities will come around or eight -- commemorate those two incredible achievements.

The goal of the exhibition is not just to so celebrate but to look ahead and acknowledgment we are the early stages of a very exciting and genomic era per, what we have learned a remarkable amount about how the genome works and how it contributes to health and disease the pace of research is only accelerating and becoming increasingly relevant to people. We have much to learn and much to understand about how to apply our new knowledge and much to capitalize on as we used to know makes to improve our understanding of and interactions with the world around us. It's not enough just to researchers like me and others at a HDI and to be excited about the human genome and the opportunities before us. The knowledge we are gaining to genomics is transformative and philosophically about our place in nature and biologically about what can go wrong with their genome. Because genomic knowledge will become increasingly relevant to as it is all the more urgent for the public to understand and to appreciate the applications and has for society and for individuals on medical care.

I am confident that this new exhibition at the Smithsonian will help us to do just that. The new exhibition will be viewed by more than 7 million visitors annually enter the museum and people of all ages and from all around the world. Importantly the exhibition will provide the foundation for a larger array of educational programs and outreach activities from special websites to the development of new educational materials for students and teachers in the public. Moreover after some time in Washington the exhibition is planned to travel to communities across the nation and international destinations as well. Now neither NHGRI or the national Museum of Natural History has available funds for an exhibition an initiative of the scale. As a result of this would be possible without the support of our generous donors who have stepped up to make our collaborative vision a reality. Life technologies a genomics company has pledged $3 million to the design and construction of the exhibition. Additional funding has been provided with the assistance of the foundation for the National Institutes of Health a nonprofit corporation authorized by Congress to raise private-sector funds that catalyze public private partnerships that support the NIH mission. I will ask Elizabeth de Gaulle to talk in a few minutes about the additional donors to date. These additional monies will support the development of many of the average educational programs for which both institutions are extremely grateful. In summary the summer of 2013 will bring the opening of one of the largest and most extensive collaborations between these two great institutions, the Smithsonian and the NIH. At the on months of initial intense planning between the staff at each institution I can to you that this genomics exhibit will be way cool and truly fitting of a feel that is transforming so many aspects of biomedicine. I'd now like to ask Elizabeth de Gaulle to say a few words about our new partnership. Elizabeth has been in a tizzy as exporter of this exhibition from day one and we are truly enjoying our interactions with her and her staff.

Thank you Dr. Green. I have to say on behalf of the national Museum of Natural History I wish to thank the prize recounts will and the staff at NHGRI for joining us in the Smithsonian at the historic partnership. We are indeed truly honored to have this opportunity to collaborate with the nations of preeminent medical research and -- and Stephen National Institutes of Health on such a vital and critical project. Since my first meeting with Dr. Green and his colleagues I have to confess this has been an incredible journey for me personally and I know for my colleagues. We've been so inspired by the importance and possibility of this initiative. And the passionate enthusiasm and the everyone at NHGRI is frankly quite infectious and compelling and I know Eric is trying to turn me into a geek as we go along and I've enjoyed every single moment we've had on this project so far. But more seriously as the months have passed and the more we have worked together I have come to realize that there is a really truth synergy in convergence between our institutional missions and their strategic plans going forward. More specifically the mission of the Sicilians national Museum of Natural History is to understand the natural world and our place in it. But one of the key pillars of the museums current strategic plan focuses on global genomics while the macro trends for the natural history and science museums highlight the crucial need to rapidly bring in lines in front of the house of our exhibit to try more in with the behind-the-scenes research. I genomics. So what could be more fitting than the largest natural history museum in the world to engage and educate our tens of millions of visitors both on site and online about the transformative role of genomics the life sciences in the 21st century. As the pace of research is only accelerating and becoming increasingly relevant, to everyone's daily aspects of our lives, it is urgent for our visitors to identify what you all might think as pretty obvious but the G&A is universal code that connects all life on earth past and present. It is our role as a museum to educate society about the revolutionary implications for how and for an individual opportunity for more personalized approach to medical care. Additionally, with this exhibit we can highlight how genomics helps us better understand the natural world around us and my colleague Dr. Jonathan Conning 10 we'll talk more about comparative genomics research we do at the Museum and how it relates to the work of NHGRI.

Also to amplify on Dr. Green's remarks, this high-tech, forward-looking exhibit is what I would want to say is just the beginning or just the starting point. It will be on view in the museum for a minimum of one year and then it will travel but equally important exhibit will be complicated by a rich and deep and dynamic array of public programs, educational and outreach activities, including a large digital and social media's presence, and possibly a documentary film. I know this exhibit will be extremely popular and relevant with our visiting public over the years to come and again I wish to thank NHGRI for reaching out to the Smithsonian to be your partner. Now one of the other key things I wanted to the bank -- the dream of this project and the initiative could not be realized without the support and vision of a life technologies as our lead sponsor on this project. As many of you are aware the life technologies a foundation has made a remarkable gift of $3 million to support this exhibition. We are truly grateful and cannot thank you enough and I wish to do a little round of applause if I may.

Applause --

In addition more than $500,000 has been raised through the foundation for the National Institutes of Health including support from the redwood foundation, this Elgin Corporation, New England Bio Lab, Gino Tak, specific biosciences and Mike Ampaipitakwong [ Indiscernible ]. Thank you all very much and we're working on more to come so any suggestions please let me know because we have a lot more ideas we want to bring forward to enhance the initiative. So it's been my pleasure to be with you this morning and I -- extend the invitation for the June 13 opening. And thank you very much. [ Applause ].

Thank you Elizabeth. Are not like as Jonathan to talk about the importance of the exhibition to the museum scientific programs.

Thanks. I too would like to thank the advisory Council and NHGRI for joining with us the Sony and end this historic partnership. The exhibit of course is a one aspect of this but there other aspects that have to do with research. My colleague Elizabeth -- Jay Smitherman said in his will in 1827 increase in the fusion of knowledge at those four words that stood out to the Smithsonian in good stead for the last 175 years. Elizabeth is in charge of the diffuse part and I am my colleagues are in charge of the increased part. It's a great partnership. The national Museum of Natural History probably all of you know mainly is the place for you take your kids to show them the wonders of science but actually it's also a very large and powerful research institution. We were basically on three things, the Earth and planetary systems, any aspect of the natural world, inhuman and cultural diversity . host over 300 resident scientist a year and we collaborate with about a 500 others are around the Earth. Every year we have about 10,000 scientific visitors visiting the backside of the collection and that's not the right way -- right way to put that. The backend of the collection. They stay for about 40,000 visitor days. So you might wonder why this collaboration between NHGRI and the Smithsonian and took so long to realize itself. I think it's because of the revolutionary aspect that genomics on the one hand and information technology on the other has had for the study of the natural world. The museum houses about 127 million specimens and that's about 95% of everything the Smithsonian owns. And I think nobody actually knows the real figure but I think somewhere between 500 and 800,000 species. All of those have Gino's. It's interesting to watch the development of the technology and happen as maybe not at her generation sequencing but next-generation sequencing Smiths and G&A into little strings and then runs those through machines that are amazing [ Indiscernible ] and produce a Gino. As we sit here at room temperature about 80 million specimens downtown are having to G&A sniffed into little strings iDNA phases as the collection ages. At some point grabs those two trends will converge at that building will be the largest and dense collection of genomes on earth are available because it belongs to the American people for any scientist who want to use it. But we also think genomics and informatics is going to drive most of the research on the biological world in the 21st century and to that end we've also constructed what we think is the largest natural history Bio repository so far on earth. About 24 Liquid Nitrogen Container and 54 freezers and approximately 3 to 4,000,000 3 to 4,000,002 mm flocks of capacity big in the world only has at the moment about 2 million described species, we think the Smithsonian is well-positioned to basically become a museum a genomics. In order for museums to continue to play their critical role in badgering and concentrating biodiversity for these research communities we need to start building a museum a genomics which means DNAs and teacher quality samples voucher by specimens from around the world. That's part of our five-year plan. The other initiative that we've taken to move into the new century is a 15,000 to move into the new century is a 15,000 ft.&²; genomics lab down on the Mall which we invite all of you to come down and look at. We are very proud of it and we will be filling it up with stuff and researchers as time goes by. And that regard I would also really like to thank life technologies for their support. Is not only the support for the exhibit but also we are talking with them about supporting our research behind the scene and getting us up to speed on some of these new technologies and if that all works out, we will have even more to thank them for. So with that, I guess back to Dr. Green.

And I want to take the opportunity to echo my own personal thanks to Heather and representing life technologies the lead donor. We are grateful to the nobody support their gratified to see how the ideas and technological advances generated through human genome project have helped to fuel such a large and diverse company as life technologies. Is illustrative of how [ Indiscernible ] generate new knowledge and innovation can maturity beneficial contributions to the American economy and then in turn now like technologies has given some of that back to this new collaborative endeavor. Finally I also want to point out that NHGRI in the Smithsonian have established a joint advisory group to give guidance and input about this exhibition as it becomes a reality over the next year. The full list of that membership is also available on the next webpage if you find that. One member of that advisory group is NHGRI councilmember Jim Evans. We want to represent on our counsel and we think Jim for his willingness to help us. So with that as a background I want to open the floor for questions from Council members or others here at the meeting and you can direct your questions either to me or to any of our guests. I should also point out you can direct questions and I may divert them over to Ben's and Carl Eastern of the staff were really -- really believe for this project and are working along with others at the Institute very hard in recent weeks.

I didn't get that information.

That's why I through all the way here from San Diego. I get like and everything. I feel very fortunate to be here today so as many people have bank that's a want to thank you from the bottom of my heart for this wonderful opportunity to collaborate with two amazing institutions so thank you on behalf of life technologies. I would like to read a statement as well to our Chairman and CEO reg [ Indiscernible ] sends regrets what he is unable to be here today but as they to convey how honored we are to have life technologies that addition support this educational opportunity and this partnership with the Smithsonian national Museum of Natural History and the national human genome research Institute.

The completion of the human genome project as you well know was a monumental achievement for science and humanity. By unlocking code of life past due areas of science opened and threw innovation and discovery we learn more everyday about ourselves and the world that we live in. We are at an inflection point in the history of human biology. With scientists -- with science and taught us about genomics in the last 10 years most likely will be dwarfed by the revolutionary advance the agenda mix, not only in medicine but to solve for the challenges that our world basis. The threats we know our global. Pandemics, bioterrorism, fossil fuel dependence, chronic disease, water and food security, economic sustainability, their scientific solutions will require the effort and knowledge and motivation of scientists and citizens alike. There's ever been a better time to reignite -- reunite the call for ingenuity and discovery on an international scale. As we collectively endeavor to face 21st-century challenges. We are hopeful that this exhibit will not only educate visitors on the powerful information that we can now unlock with inside our G&A but also serve as a catalyst to improve and inspire the world about the critical work and important work that scientists are doing to make our lives even better. Thank you.

[ Applause ].

I'll now open this up for questions. Either from -- Rick

I love this. I think this is one of the most exciting things. I can't wait to see it and I really hope I mentioned to some of you I hope you can participate in it as well. I'm curious about how you're going to go about building the exhibit. I don't know we've done separate museums. Are not sure what that takes. Have you already have the content down? Is it something that is going to be what you will seek advice from other scientists or people who participate in it? Is that already plant?

I have learned a tremendous amount in the past couple months. Vince? And you want to give an overview?

Dance, we want you up here.

-- Advance.

So let me talk about it a little bit at but I want to give it over to the expert and I will give it from the frame of the genome Institute and we've been working closely with the exhibition team at the Smithsonian on developing ideals and stories. One of the messages and themes and we want to make sure we share with the public. Coming up with the stories that are both going to help to communicate information but are also accessible to the public. So this is the process we've been going through in helping identify those areas. I'm pleased to introduce to you [ Indiscernible ] who is the lead exhibition developer from the Smithsonian on the project and is actually guiding us through this process of developing this exhibit and so she can share from her perspective.

We use an iterative process that we are still right at the beginning of. Where we develop a conceptual framework for these exhibits and start to imagine what kind of activities they will do in this space and what kind of visual look and feel the exhibit will have. And that three phases of design like a third of the way through or two thirds of the way through and most of the way they are we get by in from the larger community. We will go out to advisory group at the stages of design and check in with the scientists who been generous both from the Museum and per NHGRI. On content. So we're still in that very first conceptual phase of design and move quickly over the next six months or so to complete the design and then we move into the fabrication and construction piece which takes the next six months or so before we installed the exhibit.

Eric and I spoke on Friday and would love to be able to present some of these plans to you while perhaps in the fall and upcoming meetings or you can have a sense of where we're going with the project. And as we move forward if you have any particular thoughts on that Italy public programs that we can do we are thinking about so many conferences and symposiums and all types of things. If you want to give that to dance that would be great. We want to engage the expert and bring you all out to the public and show you off a little bit.

I want to stress the iterative and partnership aspect of this. You have a group of about six people within the Institute. Stick staff and they go to the Institute and their weekly meetings and will be for the next year. This is constant ongoing input along the way.

We do a lot of of focus groups with our key audiences to make sure that the message are being hit home and be doing testing of the name of the exhibit etc. So there is also sort of scientific process behind it to ensure it is successful.

When you have seven minimal -- million people coming in your dorm year you could do a focus group into a survey.


Question. Any comment. The comment I was delighted to hear Eric's comment that evolution would be part of this. It's such a stunning showcase of genomics and a desperate need in this country for education about it. So glad to hear that. My question is what kind of -- what other media will there be a presence to really publicize those besides just exhibit and a -- are you going to roll out -- publicity in other ways?

There will be a symposium and you alluded to the possibility of other TV programming.

Good question. We believe the whole footprint of digital media is critically important nowadays to engage everyone. So we're working on a number of different opportunities and collaboration and looking at apps at other things that working with the Sony and networks. It's not for sure but we are working with them on a possible documentary that would complement the exhibit. We are also in talks with PBS about some particular activities for children. So that's on that piece. As we move closer we will be working -- PR and communication strategy plan. We're not going to -- we want to have something that is a proper communications plan to ensure we can get the voice out there as much as we can.


So I'll pretend this question is for my children. And that is either going to be hands-on activities. For the children of course.

[ Laughter ].

For sure. We know that's one of the most engaging ways for visitors to interact with content as sort of a introductory level and so yes, we know we want that to be part of the exhibit experience.

I do hope you all will come down to the museum. We can give you a tour of our current exhibits but one of the new initiatives we have is a new education center that will be opening around the same time as the exhibit next your. It's a gorgeous space is a 2000 ft.&²; is being reclaimed for the museum. This is a place where children and families can anorak -- can interact. This is an opportunity for us to have a lot more hands-on activities and be able to do more targeted type of things. So come on down and we can give you a taste of what's to come.


I've been already consulted. They had a focus group with three of the scientists so Charmaine Royal and Jeff Long and I were on the phone for an hour a while ago talking with people that didn't -- Vince it brought together. It was an interesting conversation and I have great hope. I have one question and that is what is the plan for where the travel?

We're working with an organization called science at North up in Canada on the traveling portion and our intention is to have a travel for four years. I think that for three venues per year and we are still doing some market research to figure out where it will go and we've been in conversations with the different museums around the country and around the world to see where it can travel. We are still in the beginning stages.

There has been interest expressed overseas that obviously ideas at this point so again we expect travel internationally.

First of all back over my Triton about this. It's fantastic. The natural history Museum has always one of the highlights of my families visits to DC. And the displays their always good to the dinosaur Hall and you were exposed to things and you learn from what is there. On display. But the genome is getting way deeper and this idea came up to me and I thought I would get it out of my head. People will be asking questions themselves. They want to know more. Is there a way to adapt to a series kind of technology is so you could go in and ask a question. What is my risk for type II diabetes and get some type of informative response. I know you can do no type everybody that comes in but there is some couple information. People have all these questions. Am I really dissented from the chip? Can I get clarification about that?

Great questions and great ideas.


I want to echo my excitement about this. I was an intern at the Smithsonian and that's where I got my start in science so it is awesome to see this. Along those lines hopefully this is the beginning of a beautiful friendship. Going down we could imagine more programs that can happen Tivoli on the research and training side where the interest of genome and those with this motive -- Smithsonian can go hand-in-hand and expanded biology.

We are already sharing some interns back and forth. Frankly we need to catch up at the Smithsonian with a level of genomics that that's done around here . eyes are I believe the cutting edge. We're behind. But like technologies will help us do that. To give us one idea of the kind of things we bring -- we're thinking about an expedition to an idea which will be two days in Land Rovers out beyond all matter of civilization and in order to increase the world's basically coverage with genome quality tissues and important aspects of biodiversity there. The question is what the genome quality tissue mean when you're that far out into the woods. Have you know what you do will actually produce the kind of quality genome we need. There are lots of questions that will be collaborating on.

Maybe we'll take one or two more.

I wanted to add to that. I think this is going to create a great opportunity to link various extra [ Indiscernible ] grantees and our intramural program with the Smithsonian to make this communications for those opportunities and training opportunities expand. For the quality of training at the Smithsonian and the experience and exposure of trainees better engage with their program.

Just trading into something you guys have got to be great experts that which is raising the funds to do this but I would comment I bet you could get every genome scientist who has participated in any part of this to donate because -- and even prouder because I think so many of us -- so many of the community in this field are very much interested in disseminating education outreach and the people understanding is.

I'm going to ask someone from the national Institute of health addition to stand up. That is Andrea [ Indiscernible ].

Kate Gilmore. Katie Gilmore. What you come up to the mic because people need to know more about the foundational [ Indiscernible ].

So the foundation for NIH we been around for about 15 years supporting the work of the NIH both in research and training efforts. We've raised over $610 million over that period of time and we're very excited to be working with NIH to Uriah the Smithsonian on this particular effort and we will be doing very large fund-raising push and it you will all be hearing about it pretty soon.

I spent a lot of time with the foundation giving them ideas of people they should contact but if you have other -- you've heard some of the ones that have done and others that are in discussion with but if you have ideas please let us know and we will put you in touch with the foundation. As Vince alluded to in Elizabeth the more reappraised tomorrow multidimensional and multi-expansive we can get.

I wanted to close this by thanking everyone including these gas they came for today's. This concludes the announcement of this initiative between aged year I and the Smithsonian. The next year I can tell you is going to be associated with a frenzied pace of work as the exhibition and related materials are designed and assembled. I may profoundly confident it's going to turn out to be extraordinary and I think symbolically sitting for these two great institutions and also the exciting field of genomics. So thank you all for coming and thank you all for listening to this announcement.

[ Applause ].

[ Please stand by ]

If people will take their seats. And let our Smithsonian gas leave.

Thank you all for your intelligence -- indulgence for letting us do that announcement. We will now proceed to my director's reports and I guess I am standing between you and much. I want to remind you that the open session at this meeting of the national advisory Council for human genome research is being webcast live and as we now do routinely the resulting video archive and various associated documents will be made available on the archive that can be accessed through NHR I website G. no.gov. Let me start off my director's report by personally thanking the outstanding members of our advisory Council. Besides being a great-looking group as documented in this photograph they kick in February, you continue to be immensely helpful to me and my staff both during the actual Council meetings but also in various ways that we call on you for your service both individually and collectively. As I look at this picture I will tell you I'm reminded. I personally had important conversations with almost every one of you since the last meeting in February and meanwhile I know that many of you have attended key workshops and various critical comments calls. In the past few months. So in short you have been and continue to be generous with your time and your input is incredibly valuable and I can assure you much appreciated. The other thing I noticed about this photograph is under no that wasn't the angle was taken but some artifact of genome was going on. I think it standing next to Howard is something. I can barely see you. I thought maybe something weird happen.

You are shrinking. I think the next time we take your picture we will put your next to Howard. That was not nice.

For new Council members which is mainly Tony in this case but also the visitors and Web viewers of our Council meeting I want to make you aware that there's an electronic resource associated with my director's report available at the URL of the bottom of the slide and the resorts of supplemental materials associated with the paper. The slides I'm showing during my director's report are available electronically at this website both as PDF and the PowerPoint. For slides associated with specific documents or relevant websites visit document number on the bottom right which references material that you can access to the website as shown on the slide.

In addition to the video archive the entire site all linked documents will be archived at NHR I website as a historic archive. Specifically talking about the open session of this Council meeting multiple other presentations. My report is tailored around these presentations and by that I mean I won't discuss in detail the topics of others will be covering in greater depth, several general topics to discuss in the open session which these presentations will begin after lunch. First we will have an update on the NHGRI at training portfolio by Bettie Graham and that he will also give a presentation on a new NIH policy on applicants with more than $1.5 million in grant support. And then there will be an update on the X. chromosome pram -- program announcement by NSA. In addition we will have presentations and discussions about two consequences one on Genomic Sequencing and newborn screening disorders. And one on clinically relevant variance resource by Erin Ramos. And finally will have one program update that on the 1000 genomes Project and that will be given by Lisa Brooks.

For the rest of my director's report I will talk about the seven areas and they should look familiar because this is the framework I now use for each of my director support because it seems to work. And so I will start off by giving you some general NHGRI at dates.

As we discussed at the last council meeting I have proposed to reorganize NHGRI in a fashion that mostly affects the extramural research program into a lesser extent the director. As a reminder, this is a relatively formal process that involves multiple steps as stipulated by the NIH Reform Act. That process is proceeding albeit not at lightning speed but I can report that they required approvals are now being sought at the Department of Health and Human Services and hopeful that the process might reach its end at some point this summer after which we would aim to implement the new organizational model as quickly as possible. Now as some of you may be aware [ Indiscernible ] who was the founding chief of our genomic healthcare grant has been splitting his time for the last two and half years between working as a practicing family physician and also in the daily medicine residency program at Dartmouth. And [ Indiscernible ] on topics related to genomic medicine. And partially for us beginning as a -- beginning in August Greg will be turning his full-time activities to his practice. His contributions have been many since he arrived in 2006 and have included things like leaving the charge on family history book or expansion of the US Surgeon General's a web-based family history tool and NIH conference on the topic. We also led the series of reviews in the Journal of medicine on the genomics medicine and under his leadership the genomic healthcare branch established important tools for health professional education through web-based resources such as genetics and genomics competency center would you to see to and G3 see a new resource that is generated interactive genomic case studies for use in continuing education across health professional communities.

Greg asked me to express his added -- gratitude for working with an HIA and I would like to thank him for his work and commitment to the mission of the Institute into the work needed to make genomic medicine a reality. One final note. Greg will soon become a contributing editor for JAMA a new area of genomics. We're pleased to report that very mentally ill -- it received not only but two prestigious honors since last council meeting. First she received 2011 department of health Institute secretary worker Meera Turi -- service for your leadership and coronation of the department responded developing a research plan for studying the health effects of the Gulf of Mexico oil spill. At second she was elected to the Johns Hopkins society of scholars and this honor is given to former Johns Hopkins University students are attorneys who have made outstanding contributions to science and new knowledge. Congratulations Terry.

Moving on to NIH updates. First update a good one. Terry Gibbons has been selected to be the new director of heart lung and blood Institute. He is a founder and current director of the cardiovascular research Institute at Morehouse school of medicine where he also serves as chairman of the department of physiology. We know very well at NHGRI because until recently served on NHGRI board scientific counselors for our research program and in his capacity at Intel is advice and guidance to be quite beneficial to our investigators. Dr. Gibbons expects to start at NIH this summer and we're excited to have him come here.

So personal data for personal reasons Chris Kaiser within IT we drew between the new director of National Institute of General Medical Sciences. And positioning it originally planned to begin in mid-April. As a result, Judith Greenberg will continue to act as a director of NIGMS. The search of identifying this will begin again soon. Previously answered on that search committee and I've now been asked to cochair that search committee along with [ Indiscernible ] Landis. I willing to do this and excited because there are so many important and exciting collaborative opportunities between NHGRI and NIGMS and I am motivated to identify outstanding positions. Let me know if you have any ideas of individuals we should approach or the search committee should approach about becoming a can -- candidate for this directorship.

In February NIH launch of genetic testing registry of the national Center for biotechnology information. This a public database catalogs as the availability and validity of usefulness of genetic. In operates by voluntary submissions capturing information about intended use and target populations and assay limitations and clinical validity and utility.

In March and the Obama administration launched the big data research and development initiative. Which aims to improve the nation's ability to extract knowledge and insights from large complex collections of digital data. 6US government departments and agencies including NIH have committed more than $200 million to fund new initiative. The National Science Foundation and the NIH are participating in a joint solicitation issued in March and titled up for technologies and techniques for advancing big data science and engineering. Through this NIH is particularly interested in imaging molecular cellular and physiological and behavioral an epidural e-mail joke -- to health and disease. The seven NIH centers participating with the anticipated annual funding being about $3 billion. We anticipate, dripping up to $400,000 annually to this initiative.

At the February council meeting I reported that our working group of the advisory committee to the Director. NIH Director. that is as been established to investigate the management integration and analysis of large biomedical data sets. The so-called data and informatics working group chaired by Larry [ Indiscernible ] and David demand of the University of Wisconsin will provide the reports to the NIH director in June. And preparation for asking on that report of three trans-NIH and subgroups have been established in the areas of molecular, phenotype in imaging data and NHGRI and MHD MS are colluding to burst group and one focusing on molecular data. The ultimate goal is to produce a series of ideas internal a developing them based on information coming out of the larger working group -- the external group -- that we have to propose is a new common fund initiative in fiscal 2014.

We are call that Francis Collins asked that a need assessment be a formed last summer by an ad hoc committee chaired by the David Ginsburg. The committee recommended that NCBI the given special dispensation with respect to the annual budgets because of its ever-growing responsibilities to assimilate and disseminate biological data especially genome sequence data. As a result, NCBI has it been guaranteed a budgetary increase each year for the next several years regardless of the state of the overall NIH budget. Torture appropriate stewardship of this unusual budgetary and programmatic situation Francis Collins has established a new working group called the NCBI working group of is advisory committee to the Director. This group are provided by is that NCBI services especially with respect to the relative priorities in the space of completingdemand.. David Ginsburg will also serve as the chair of this new working group and membership of which is shown here and includes complementary Jhonas Enroth. [ Indiscernible ] and I will also solve on this committee and eight unofficial capacity and we cochair an internal group called the NCBI resource board which is responsible for helping to find the appropriate resource it needs for NCBI again because of the unusual service role for the broader scientific community. It's anticipated this group only a few times a year to assess priorities so we will also be able to get a good more rapidly with any acute issues or problems arise.

Francis Collins established a basic behavioral and social science opportunity network OppNet in November 2019. In 20 of the 2009. The mission of OppNet is to pursue opportunities for the oval at NIH while innovating beyond existing investments. OppNet prioritizes activities and initiatives that are relevant to the missions of [ Indiscernible ] incentive. All NIH institutes and centers collectively funded and managed OppNet however OppNet is [ Indiscernible ] from the comment on. Brands from the OppNet RSA pathways linking the psychosocial stress in behavior may come to this a double council meeting.

In terms of NIH OppNet by -- the best for last. The situation would be fiscal 2013 and I age appropriation. The NIH budget for next fiscal year. Is you may recall the president delivered his proposal to school 2013 budget at Harvard in February calling for essentially a flat NIH budget relative to the current fiscal year. Congress is now holding various hearings including those about NIH. So on March 20 Francis Collins acting director of in Testified before the House of appropriation subcommittee responsible for drafting NIH budget each year. There was a strong focus on and And the role of NIH and translational science.

On March 28 gross money committee in the Senate held a hearing on NIH with Francis Collins and several institute directors testifying. Those 2 Hearings Took Place. and it base system highly unusual circumstances related to the fiscal 2013 and I age by the. For starters we will certainly not have an agreement about the budget until after the November election. So whether NIH ever get the president so flat budget is completely unknown. We will inevitably start the new fiscal year on October 1 under a continuing resolution meaning we will be asked to Deborah Lee operator assuming the same budget as the previous year. While meanwhile the elephant in the room relates to last summer's veiled debt deal and the inaction of the not so super committee Berkowitz now means that an automatic 8 to 9% budget cut or a sequence Christian will occur in early January 13 unless some sort of new debt deal or other compromise is reached. Said is the first question is a [ Indiscernible ]. It's hard to even imagine how NIH would be able to do with the teacher Connie and cut especially given mind it would kick in at the 25% point of the fiscal year. By would be applied retroactively to the entire fiscal year. While making this particular challenge is the November election and its uncertainties about the next president were the political balance in each chamber of Congress. The likely scenario is we will simply do not know much about the budget until at least December and more likely January. Okay. Meanwhile as -- advocates for speaking out to express concerns about potential frustration. Released on the day of the Senate hearing a united for medical research report records will either lost of 3000 jobs across the job -- a massive step backward for biomedical research in this country.

A tacit report released last month estimate such as the restoration would really doing that on a billion-dollar cut to the external body which would have a devastating effect on medical research. While various proposals solutions are being debated in Congress to potentially avoid a sequestration including a recently passed House Bill it is hard to predict any of them will truly be in court -- implemented. All we can do for now is watch and wait.

So we certainly find ourselves in a very unusual and uncomfortable circumstance with respect to next year's NIH budget. Between the election and the potential sequestration it will feel like a turbulent roller coaster ride for the next 6 to 8 months. I for one plan to buckle up to avoid getting tossed and turned too badly when it follow the political moves each day and I'm now routinely dosing up with Dramamine to avoid the inevitable nausea that will occur as things unfold. And just to be safe the NIH was kind enough to install oxygen masks in the feelings of all the institute directors offices which will drop down for use as a sequestration kicks in. A top of that we log given training to be sure that we fastened the mask on securely ourselves before placing the mask on the basis of any of our external program directors. So stay tuned to CNN and Gina web for continuing development in this insane story.

Related to all this discussion about the fiscal 2013 NIH budget but more broadly to the turbulent ride we've seen go through every year related to budgetary uncertainties and the lack of a long-term plan to provide the life sciences research stable annual funding. Late last week the information technology and innovation foundation and United for medical research released a new report entitled leadership of decline of accepting -- affecting U.S. competitiveness in biomedical research. This report is clinical of the U.S. commitment to the life sciences and providing evidence for declining global leadership. The budgetary problems thrust onto the NIH is cited as one of the core reasons for this. Included our data illustrating how a clear picture emerges from these indicators about the competitive positions on US-led sciences industry has been eroding over the past decade.

Elsewhere they cite examples of how we are losing our competitiveness one that has close to NHGRI is the point that China has the world's largest next-generation sequencing capacity with more sequencing capacity in the United States and the one third of the global capacity. And further the report points out at least the past half-century the United States has been up for four and -- forefront of the revolution but in this intensifying global competition continued US-led sciences leadership is not assured and is a nuclear threat from several sources. These are sobering conclusion that I strongly urge council members and others to download this report and take a careful look at it.

Let's move onto other updates. Were not all tobacco -- he won the 19 -- he won the 1975 Nobel Prize for his role in drawing a link between genetic mutations and cancer. In terms of his genomic contribution and connections in 1980 that he wrote a journal of science and story on cancer research in which you propose that cataloging human genes by sequencing the human genome would provide the needed insight for understanding cancer. This article is a key point or key part of the growing support leading to the launch of this project in 1990. Janet Riley a good friend and many times advisor to NHGRI was awarded the 2012 Japan prize in the field of healthcare and medical technology progress you will share the award with Brian Drucker and Nicholas [ Indiscernible ] for their respective roles in development of the first two click targeted anticancer drug [ Indiscernible ].

Well-known to the genomics community David [ Indiscernible ] our presenter recently awarded the 2012 Dan David prize given annually for achievements having outstanding scientific our cultural or social impact on our world. Each year deals are chosen within three times dimensions and past present and future, they were given their wards for the future and for genomics research.

As someone who keeps a close eye on the various things going on my hometown of St. Louis I'm pleased to embarrass a council member but to report that Tim Ley and Elayne Martus and Britain Wilson of the Washington University recently received the George Engelman into the net disciplinary -- interdisciplinary reward of St. Louis. This recognizes outstanding achievement in science and technology that resulting collaboration among two or more individuals across the disciplinary or institutional boundaries. In 2000 days of these researchers led a team that led to the first genome of it cancer patient.

Recently a number of individuals was elected to the National Academy of Sciences. That list included Andy Clarke, Roger Peano, Evan Eichler, Greg Cannon, here is fluid and Rick Young. In addition [ Indiscernible ] was also elected as at the same time.

[ Indiscernible ] has been elected president of the American College of medical genetic and genomic medicine foundation for genetics and genomics medicine 30 days over for riding owl who served as president for nine years. Bruce is currently serving on the NHGRI board of scientific ounces for research program.

As you may remember from our February council meeting the presidential commission for the study of bioethical issues has been considering bioethical issues raised by dances in human genome sequencing. Specifically the commission is focusing on issues related to access to an individual privacy protection for a genetic information. With a focus on large-scale human genome sequence data. As part of the development of this report the Department of Health and human services published a request for information on this topic in late March with a 30 day comment period. As shown on the left. The commission is also serving federal agencies for the relevant statutes, regulations and policies and NHGRI is now part in close contact to provide input and resources to provide possible ways the commission could be helpful. Comment about this effort can be submitted to the e-mail they are. --

In April of this year the last row of researching some surgeon -- a report that forecast of the next two years of the tools market. Although they look at many different research tool areas they found the genomics is a expected to be the fastest-growing segment. According to their projections of the genomic sector is poised to grow at 6% annually over the next five years. From $6.8 billion in 2011 to 6 point From $6.8 billion in 2011 to $6.8 million in 2016. Much of that growth is expected in next-generation G&A sequencing what exactly will grow by 16% each year from one point Much of that growth is expected in next-generation G&A sequencing what exactly will grow by 16% each year from 1.0 5 billion in 11 to [ Indiscernible ] in 2016. The report predicts that overall life sciences research to market will be fueled by demand from the sale, Russia, India and China.

Genomics is also prominently featured in the recently released White House office of science and technology policies national Bio economy blueprint. This lengthy document points to various ongoing developments in the biological sciences that will likely have important economic impact for the nation. With our direct input from NHGRI their show to feature our iconic graph of the plummeting cost of genome sequencing as shown on the right is noble this report can contain very few graphics making it really flattering that the White House just to predominantly Peter NHGRI graphic. The report describes our these are foundational taken -- foundational technologies for today and the future.

In March the U.S. and Supreme Court ended a long-running case between Prometheus laboratories and medical laboratories. Over patting for turning by looking at patient's blood metabolites levels. The Federal District Court previously found that Prometheus was trying to patent a natural phenomenon which the federal circuit court overturned on appeal. The Supreme Court reached the same conclusion as the District Court finding in favor of it [ Indiscernible ] who is served by Prometheus for offering their own tests with slightly different threshold for taking doses. We're waiting to see what impact this might have on the [ Indiscernible ] a pending case between myriad genetics that Ehrlich signs at the diagnostics and software patents be if there's a lower course for taking a struggle line of patent eligibility however in the Marriott, so lower courts have already rejected the genotype phenotype association claim. This decision may not affect the area the sequence claims that it claims to purify isolated G&A with the RCA sequence although the Supreme Court does cite concern over patent protection holding back biomedical innovation. Obviously and always seems to be more to come in this area and we will continue to aim to keep council update about relative updates.

In terms of recent genomics meetings for 2012 advance the digital biology technology meeting took place this past February. Once again the demand to attend this meeting was far greater than could be accommodated. In fact we had a large waiting list. Once again companies to get to unveil their latest achievement. By technologies and alumina announces availability of new G&A sequencing machines later this year while Oxford announced the available of the USB sequencer.

I would also point out those of you who couldn't go to the meeting -- I didn't want to let you guys think the only talent I have is PowerPoint. So during breaks in meeting I did go out and take pictures on the beach and here are a few of my photos I want to share with you. Here is a [ Indiscernible ] which I learned it migrates from the north and settled in Marco Island just about the time genomics show up. Actually the larger -- this bird which is the black humor which migrate up from South America and is the largest flock that might or -- migrates in South America. My favorite is the pelicans if you catch them in the morning you get beautiful reflections. You go out to lunch break and you see them flying and if you go it is that you get images like this.

That was your halftime show. Back to the regular program.

You don't see beautiful things like this when you go to the coast at Juno meetings. You see other things that you don't the pelicans. Two weeks ago there was a 2012 biology of genomes meeting at cold Spring Harbor. If my memory are correct I think this is Tony fourth annual cold Spring Harbor meeting and Rick is doing exactly sure because I know he was at the very first one. Notable highlights from this meeting included several talks and single cell genomics and corrective updates on Cancer sequencing projects and an LC panel discussion on genomic literacy and then finally presentations by Debbie Nickerson and [ Indiscernible ].

A special titled cracking genetic code in March. The development of the show was funded by NHGRI and numerous faces were to show drug program. It was about technologies and research surrounding genetic-based medicine.

[ Captioners Transitioning ]

Reported population couple of weeks levels in the human Juma in a personal profile approach to personalized medicine. Speaking of regular features let me move on to my regular genomics in the news portion of a directors report also filled with notable stories and maybe a little bit of us, at least I have been with the. Will start more serious evolves a council member, David Kingsley and colleagues at Stanford University analyzed whole genome symptoms of 21 sticklebacks chose from geographical location around the world that will get an excellent paper in nature in April identify the regions of the stickleback genomes responsible for notable enough to pick adaptations. Meanwhile, nature also recently published a paper reporting the genome sequence of the guerrilla

-- Closely resembles the guerrilla then the chimpanzee. Three papers, reporting new findings about the genetics of autism were published in nature last month representing the work led by Evan Eichler, Mark Bailey -- whole genome Daschle exon 16 was performed by all three groups unveiling interesting patterns of gene mutation in autism. The results adjusted modest roles for women for hundreds of genes in autism and pinpoint the specific genes as genuine risk factors. These findings are reported in the New York Times in an article that included this photograph of Evan Eichler, Jay Shendure and Brando broke of the University of Washington. A cold their report has risen would become a place to catch up on the latest advances in genomics and science in general. I don't know if that is good or bad just what it is. David page was recently a guest on the Colbert report were used creative props to discuss the evolution of sex chromosomes, David was for the most part in control of the interview when he had the model chromosomes in his hand that all Helfrich was when Coover got his hands on the chromosome not to be outdone Francis Collins appeared on the show two weeks ago for his third appearance going toe to toe with Coover in this case he talked about obesity and a new multipart HBO series called weight of the nation the references but within -- called of God can keep his hands off the scientific prop. Finally genomics in the news. In early April NPR ran a story about a preschool Academy in New York City reporting that the school, that will now require submission of a DNA sample for each child as part of their application. DNA testing would then be performed as part of the evaluation process of that child, quote in order to weed out the kids who have no chance.

As one might imagine, the story had the potential to bring significant stress and debate in the genomics community but before ELSI researches and genomic activists around the world had a chance to self organize a protest NPR did a story, issued on April 1 was just an April fool's joke.

Moving on to the extramural program. It seems -- wasn't funny? Right to NPR.

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That's probably true.

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It is always better but uncle bear -- on Colbert moving on to the action or program it seems appropriate to start with the genomes existing program or call there for components of the recently renewed NHGRI genome sequencing program. Marginal genome sequencing centers, Mendelian disorders genome centers, clinical sequencing exploratory research projects, and informatics tools for high throughput with data analysis.

Each of the programs we discussed further in subsequent slides but I want to know for the first time all four components of our genome sequencing program will get together for a face-to-face meeting in October. In addition to the necessary housekeeping tasks we hope that the attendees will use this opportunity to pursue shared goals, discuss, obstacles and engage directly with their mutual scientific objectives. Starting up first with a large-scale genome sequencing centers undertaking numerous projects, mostly related to complex disease and cancer.

Notably in February, the Obama administration announced efforts to fight Alzheimer's disease, including making an additional $50 million of existing NAH funds available for cutting-edge Alzheimer's research. Accounting for half of those funds, the large-scale genome sequencing centers program is in the late planning stages for a significant Alzheimer's disease in on sequencing project in collaboration with the national Institute on aging and its grantees. Also worth highlighting our highlights the pointer number of publications emanating from the centers of the last Council meeting, including those related to autism, schizophrenia, cancer, comparative genomics and population genomics.

Additional highlighting is appropriate in the case of the Cancer genome Atlas, T. CGA. Which involves a large-scale genome sequencing centers. Has been hard at work in about 20 different tumor types and its papers in press or under review that report analyses for three major diseases, colorectal cancer, carcinoma, breast carcinoma in London and squamous cells are somewhat. Each of these projects will continue to T. CGA practice of releasing large-scale in terms of hundreds of tumors and most comprehensive descriptions to date in terms of the dishes, copy number changes, gene expression, and methylation and clinical data for each of these important campus. Several additional manuscripts are also anticipated this year. From T. CGA. In other T. CGA news, Fiji have been a T. CGA sequence data repository developed at UC Santa Cruz recently open. CGHub is than site where all investigators can find T. CGA primary sequence files. Brothers your CGHub anticipate that any features to make the data more useful such as enable to slice BAM, the very large files contain the sequence from an normal or tumor sample, so that an investigator can download only a particular gene or region rather than the entire genome sequenced. In a nontrivial advance on the policy front, CGHub is the first NAH trusted partner for archiving industry-leading genome sequence data outside of NCBI or EDI. Several more trusted partners are NAH projects are being developed, they will add value to this type of data to make a more useful and accessible to investigators. T. CGA continues to be on target for then this is goal of complete incompetence of analyses of greater than 20 tumor types by 2014. Anomic data on greater than 6000 cancer cases are available now, with approximately 200 added to the data portal each month.

The second component of NHI's new genomic 16 program consist of Mendelian disorders genome centers. At three centers from a daily in genomics as they are called are co-funded by NHGRI and NHLBI and into discover the genetic basis for his money's Mendelian disorders is possible. The programs single sample solicitation Web portal has gone live. And a pipeline has been implemented shown here that progresses from solicitation through sample assignment at the centers at Yale, Baylor Hopkins and the University of Washington. The pipeline is strongly run by the three centers with the University of Washington group cord knitting all joint activity. The centers for organizing educational program focused on in doing genomics that will be held at the 2012 annual meeting of the American Society of human genetics.

And disease gene discovery is ongoing at the centers of very stages from sequencing to the identification of disease genes. Other component of NHGRI's musing genomes with the program consist of clinical sequencing exploratory research projects from the steering committee for this program called CSE are held its first face-to-face meeting a few weeks ago, a gathering that occur jointly with the ELSI program new return of result consortium. The investigators are tackling important regulatory technical and cycle socials challenges to bringing genomic medicine to patients. Discussions at the meeting emphasized critical topics such as informed consent, refining definitions of action ability distinguished between radical care versus clinical research and success stories from early implementation of clinical sequencing. Several of her Council members attended this meeting, Jim Evans and Amy Maguire as investigators in the program, and Pamela Sankar representing the sequence he advisory panel. In addition to the first meeting, there are -- there was a great response originals with sedition for the CSE our programs we now reissued the RFA. It is in the NIH guide now, with an application receipt date of July 26 a company the reissue is an RFA for coordination center where the program that will support the CSER program in addition to simulation and distribution of best practices and empirical evidence for this rapidly advancing area.

Before the final component of NHGRI's new genome sequencing program consist of grants to support the development of informatics tools for high throughput requests data analysis. Investigators are now using DNA sequencing estimates that are as powerful as an entire genome Center was just a few years ago. But only the first of the DNA sequence production can be purchased in a boxed. Investigators are not able to buy a bio informatics center in a box to make sense of the resulting data. And method references the challenge that this program is attempting to address. The network of grantees funded as part of the fourth component of NHGRI's nude genome sequencing program has chosen an intergalactic missing, I seek tools robust for researchers without specialist of additional skills for this program an effort to leverage a cheer nurse suitable vicinity with the centers as well finish it such as 1000 genomes, galaxy and others. At catalog of tools is being assembled on the iSeqTools's wiki to create a knowledge base and identify synergies. The DNA sequencing technology developer program held its eighth annual grantee meeting in early April. The meeting was attended by 130 members of grantees laboratories and ever enjoyed for an additional day by 40 others interested in developing technologies for faster, less expensive and more accurate DNA sequence generation. Participants heard updates on technology innovations that range from how to achieve higher quality and longer read using correctly -- currently available estimates to better understand how DNA molecules are captured by an interact with nano course, to purchase for better fabricating and recording from solid-state DNA sequencing devices. The highlight of the meeting, with presentations of two papers published on the second day of the meeting, papers that were featured on the cover of the April issue of nature biotechnology. Newspapers demonstrated reproducible electronic signals corresponding to the sequence of DNA molecules translocate he threw a nano for. -- Nano for. This is a 20 or Odyssey since the idea was first proposed in 1992. And was exciting that the three people who conceived of this approach for sequencing DNA were all at the meeting. Daniel Bratton, David Diemer and George Church. The actual papers are published by the laboratories of just going land and mark a good thing, several of the members of the groups were also a meeting. While the surface of the end of that Odyssey, in a very well since this is just the beginning of a journey with the first commercial device that uses nanopore's for sequencing DNA expected to be available commercially later this year and many opportunities on the horizon to turn this remarkable scientific progress and robust market faster and inexpensive DNA sequencing technologies. Moving on to encode and modern code 10 technology to build the words were funded a bundle of the word is expected to be funded in a. These projects aim to develop and improve methods for identifying optional element and for validating biological functions meanwhile three ENCODE our face released October affectations received in December, these are days into support research projects that apply high throughput cost efficient approaches to extend ENCODE resources toward its complete a catalog of possible. These applications will be discussed by counsel in the closed session. NHGRI is organizing a symposium to be held in the natural conference and on NHI conference on June 2010 21st symposium is open to the public and registration is encouraged. The meeting is planned to tie into the genetics Society of America meeting titled model organisms to human biology, cancer genetics. Which is scheduled to take place in Washington DC from June June 20 through 20.

There are various integrated analysis papers being planned, the ENCODE Consortium has a name integrated paper and many to many papers currently under review with the publication expected to occur in early fall. The ModENCODE and ENCODE consortia are currently working to integrate worm, fly andhumann ENCODE data and the mouse

When Consortium is currently planning a comparison of human and mouse data.

Moving on to the ELSI program, they issued to RFA C. connection with the centers of excellence or CER program AP 20 arcade conducted to explore tree centers and AP 50 RFA to fund up to two additional full centers. These applications are due in July for review in the fall, with again after February's next Council meeting. The ELSI program formally launched its return of results consortium which consisted of investigators on our 01 and art one projects funded through our essays focus on this topic as well as investigators involved in the ethical and psychosocial research component of the clinical sequencing exporter research program that I spoke of earlier. And, several others with investigator initiated projects studying issues related to this topic. As I mentioned already the Consortium recently held its first face-to-face meeting in conjunction with the CSER steering committee. Working groups have been established with estimates and measures, informed consent, action ability and special issues relating to returning result in the pediatric context. The April 2012 issue of genetics in medicine focused on issues relating to return of results and incidental findings. A large number of the papers and the issuer of the result of research funded by the ELSI program and many of the authors are members of the new consortium.

In terms of upcoming planning meetings there is one worth mentioning at this time. NHGRI workshop on integrating functional data for connecting genotype to denote type will be held in July in July 30 and July 31, the meeting Sixers were more deeply some ideas that came out of the planning efforts in the areas of basic genomics. Specifically, the workshop will address whether there is a practical, systematic way to copper has a leverage the gap between sequence and enough type, by producing a catalog of older level functional annotations of all genomic elements. The workshop will also discuss utility of potential data types, organization of information and integration relative to both translation and the understanding of basic elegy.

So, moving on to the NIH common fund. Or, as always any -- NHGRI has extensive involvement starting up with the human micro by a project. I will point out that funding for the human micro biome project and this fiscal year in fiscal 2012, two major publications of the HMP consortium have been accepted by nature, published in June. First describes the community resources developed by HMP from the second is a meta-genomic analysis of the 300 subject of a covert involving five body sites. The latter study focused on the structure and dynamics of the microbial communities and on analysis of the metabolic capabilities of the micro biome through and in silicone reconstruction of robotic pathways. These two papers will be accompanied by the release of over 20 companion papers in a PLS virtual HMP collection. Over last four months working group of program staff representing 12 and OAH Institute and centers developed a puzzle for follow-on program to HMP. The proposal for a so-called HMP two was admitted to the common fund in April and is currently being evaluated. April report of HMP in a possible HMP2 will be given at the September Council meeting.

The Knockout Mouse Phenotyping Project or KOMP2 is a second phase of an initiative to integrate a public resource and present my containing a null mutation in every gene in the mouse genome. In five years, KOMP2 in cynically 500 light mouse strains for knockout ES cells. KOMP2 awards are made in fiscal 2011 with overall funding for the program being $111 million over five years. Three centers proposing paired mouse production and mouse phenotype in applications were ultimately funded. Final opera and protocols for competitively genotyping the knockout mouse strains have been approved and adopted. And, in order to make data and mice available to researchers, an application was funded for a data coordination Center and database as EDI. The center is now housing a website that will be actively updated to show status and eventually displayed in a tape -- phenotypic data. KOMP2 has committed clever with other international projects to achieve a total of 5000 phenotype of strains do the international mouse phenotype in Consortium, otherwise known as I am PC. The IABC now includes the impact of programs and KOMP2 will be holding joint coordination meetings with this consortium.

Moving on to the genotype tissue expression project, the pilot days of Gtech's. Has been very successful meeting project goals in terms of the Roman and RNA quality permit or double the project has average greater than $10 a month with over 130 postmortem donors in world thus far. RNO is a measure of Arnie quality are very good with the RNA or more than one dozen organs having a RIN value of greater than six or more than 7% of the cases. Preliminary gene expression result look like that. And the -- about with great., But is now considering a scale of proposal two posted 900 -- 900 owners with a decision expected soon. The first DDG AP date of release which will reflect a march data trees for the project is expected later this month. The links program will hold its annual Consortium meeting in November members of the dinner generation computational Center and technology groups are expected to attend as well as the external scientific panel. The NIH staff overseeing links made in the request to the common fund for when you're excessive the pilot through provision of fiscal 2013%, after this allow for more robust development of a plan for a LINCS face to start in fiscal 2014. Acting on a recommendation of its external scientific panel, LINCS has established a scheduled record release of data starting this past March and also NIH staff is currently finalizing language for their data release policy. Approaching capture reagent program is maintaining mitigation through several newly developed working groups, those focused on data dissemination, validation and target list prioritization.

These working groups are chaired by program investigators, they meet regularly and have made significant progress towards approaching capture reagent program. And its objectives. As part of the target list prioritization working group, members are seeking community input on priorities for producing human transcription factor reagents. Input will be taken starting June 1 and ending July 31. The program will then evaluate responses based on rationale and significant. This working group has her neglected input from the ENCODE Consortium and various other external groups.

The H3 Africa project received 57 applications from across Africa and can't -- Huntsman first RFA some of these applications were reviewed in March and April. A funding plan based on these reviews will be discussed in a closed session of the Council meeting after which a small group of NHL will make site visits to the potential grantees. Finally, the inaugural H3Africa research network meeting will be held in Ethiopia in October during the hosted by the Wellcome trust our partners for H3Africa. Single so analysis is a new common fund program with the goals of one analyzing general principles of cellular heterogeneity be a transcriptional program, too, establishing a quantum leap in spatial temporal resolution of tissues and three, pursuing extensions and applications in the clinic. Free RFA's were issued, one for each of these areas in the submitted applications were reviewed earlier this month. In addition, I worship of this initiative is resuming a focus on identifying gaps and opportunities in single self-analysis.

NHGRI has a particular interest in this program for several reasons. Verse, we are edges of the new technologies that might emerge since we have historically supported award that aim to perform any sequencing at the single celled level. Second, we have an interest in understanding networks and pathways generated genomic data, and understanding the role of cellular heterogeneity at the single level -- single celled level, will be crucial for this. And finally, there is potentially the opportunity for dancing clinical applications at genomic technologies that focus on single self within the commission so problematically we would be involved in making funding recommendations and managed the grant of a common fund project. So, that is what I want to talk about, but now moving on to the office of directors starting off with the office of population show mixed. In March, the name into network released its online unit type library and tools, tool called PheKB a knowledge base for discovering phenotypes for electronic medical records. The purpose of this is to provide a collaborative environment for building and validating electronic unit type algorithms. There are now 17 phenotype algorithms in the PheKB including a joke of relation, cataracts, Crohn's disease, type II diabetes, diabetic retinopathy, hypothyroidism and so forth. Currently has the following functions and allows you to the existing algorithms, enter or create new algorithms, to collaborate with others to create or review of rhythms to review and limitation details and existing out and -- algorithms. Also related to eMERGE on behalf of the eMERGE Consortium Bradley Malin recently presented testament to the national committee on vital and healthstatisticss or into DHS, subcommittee on privacy, confidentiality and security. NCBH us as a major advisory committee to the secretary of the Department of Health and Human Services. Brad presented eMERGE experience in developing, applying and evaluating policies and technologies for the governance of electronic medical record systems and bio banks or lifecycle of data management. This included insights about data collection, community engagement models, community advisor he bowed before the promotion research to the community data utilization and over arching eating use agreement for sharing data in the Consortium and data dissemination, the identify data submitted to dbGaP for sharing data beyond eMERGE sites. Moving on to Geneva, the gene environment association studies, Geneva initiative reaches its conclusion at the end of May, 20 data sets have been posted to dbGaP for why pretty phenotypes all of which have been indicated to a standard 1000 genomes reference. Overall, Geneva investigators produce more than 50 publications of 2009. And further they developed a bio conductor software package called JBoss tools for cleaning in analyzing GWAS data.

Turning of the Phoenix progress continues in the growth of the PhenX toolkit most recently the national Institute of drug abuse the professor then the toolkit to include additional substance use measures. 43 new measures related to substance use and addiction were added to the tool tip. Inclusion of these measures resulted from a year-and-a-half on collaboration between NHRA, an idea in the Phoenix project team the team used a consensus-based process to select and that measures the vault content experts and an idea action myrtle community. Substance abuse and scientific panel was convened to oversee the process entry expert working groups identified measures and address substance use and related intermediate the tapes, cognitive and psychosocial risk factors and community comorbidities in health-related outcomes. Meanwhile they are encouraging all grant applications proposing human subjects research to use the PhenX toolkit to increase research's ability to combine studies and gain much-needed physical power to identify genes related to substance abuse and addiction. Moving on to other parts of the office of the Director, the complete collection of articles on genomic medicine have now been published as part of the New England Journal of medicine series edited by Greg Feero who I mentioned earlier and Alan got mocker. Shown here is the last article as well as the closing editorial will published since the last Council meeting.

The NHGRI DNA Day chat room has been an annual event since 2005. This year the chat room was held April 20 for nine hours and was stopped by more than 70 experts from around the country. In total we received more than 900 questions of which 764 were answered. Questions are received from students of 37 states and outside of the United States states sending in those questions were Indiana, Pennsylvania, California, Georgia and Nevada. The majority of questions received were from ninth graders although there was a significant number of medical students submitting questions as well. The second annual USA science and engineering festival to waste in April at the Washington convention Center in DC. As with the last festival held in October of 2010, NIH was there in force. And NHGRI was on the most involved in should -- as is we partnered with the American Society mention etc. and activities. In total more than 25 volunteers from NHGRI participating.

Shown here, is in aerial view of the convention center floor for most of the NIH booths were located, that is the area in the convention floor where we were heavily represented most of which had hands-on activities, not surprisingly NHGRI booth was packed with interested learners all day, every day. Activity of course was to purify DNA from strawberries. This made many children very happy. But, it did mean that 20 pounds of strawberries sacrificed their cellular existence in pursuit of purify DNA. And on the second day we actually ran out of strawberries. So, shown here is my 12-year-old daughter Abby, frantically working with the fruit in a pure breading extraordinaire and Booth star, color Easter, to see if they can quickly get a protocol involving bananas. To work. Having unexpectedly when of strawberries. The following of the on-site optimization to revise protocol emerged and Booth visitors were able to purify small amount of DNA from hunks of banana stolen from people's box lunches. [Laughter]

NHGRI's collaborative of suburban Hospital in Bethesda and the Johns Hopkins University school of medicine told about the grand brown style seminar covering topics in genomic medicine. Greg Feero is leading the planning committee for the serious. Talks are being held on the first Friday of each month for the next one being given by Barbara B. figure in early June. We buy the next latest figures listed here, will get talk starting at leveraging next January. The particular relevance in the reason I want to point this out to counsel is all the talks are being videotaped and made available on NHGRI is genome TV channel of you to. -- You too. Finally moving a briefly to the internal program there are some recent highlights from NHGRI's intramural research program to include for example Charles Bertini and colleagues in the center for research on genomics and global health published a study in the New England Journal of Medicine identifying a genetic association between the H. elite class to locus and the tropical disorder put Oconee us as. This condition affects 4 million people in 10 poor countries. And KJ Myung reported in proceedings of the National Academy of Sciences paper the development of a molecular screen that detected 20 to DNA damaging antioxidants. These compounds were shown to be lethal to dividing cells such as those in tumors. NHGRI recently completed the 10th iteration of its very popular lecture series called current topics in genome analysis, in which Andy X. benefit I started as an educational outreach effort of NHGRI's intramural research program back in the mid-1990s. In recent years we've moved to posting the videos and PowerPoint presentations from these lectures to our genome TV channel of YouTube and viewership has been truly phenomenal. Work sample, there've been over 20,000 use of these lectures from our recently completed 2012 series. But, this number will only grow substantially if things play out as in previous years. And as a data point, you see for example the last iteration of the series back in 2010, resulted in over 200,000 use of the lectures. And I can tell you I routinely hear about interest in watching these archived lecture series especially when I travel abroad.

Finally, I have mentioned this in previous council meetings, the NHRA intramural research program is currently undergoing a blue ribbon panel review, the last one being in 2001, with supposed to be done every 10 years. Shown here is the panel's membership, note that Rick Myers is the representative from counsel. The blue-ribbon panel review will be completed this summer. And as a result, of the September Council meeting, we will have two things. Related to this. First of all we will get for the first time a general presentation about the NHGRI intramural research program from Dan Kassar, recently appointed scientific director, who directs the division of intramural your research, head of a general overview about the program and then second of formal presentation about the blue-ribbon panels review and their report will be given by Rick Myers.

With that, I am done and is always going to give a special thanks to Chris Witter Strang, with the key person coordinating all of this material coming in the director's report but also to Larry Thompson, Judy why in the NHGRI web team for help and the electronic aspects of this is the picture I always show Chris but the other thing important that happened in the last Council meeting is that Christopher wants a lifetime trip to the Galapagos Islands, social and here in the background yet to figure out what that is a red footed booby chick lit so not an adolescent bird, red footed booby behind Chris and the picture I'm sure to ask her a break shall show you hundreds of pictures.

So, with that I will stop and happy to take any questions you have. Either that means this is really clear overwhelming or everyone is really hungry and it could be all those. Any questions? We have lots of time to discuss lots of things.

Always amazing to see how much happened in wordiness.

I agree I am one of these councilmen visiting organ have counseled three months am to have maybe 40 slides in them before a know it all comes into Chris also rip it so much that goes on. It is amazing partially a reflection of the field. Partial reflection of the high-energy nature of our Institute.

Eric, you've never given a talk with less than 40 slides.

That's true.. [Laughter]

Certainly not an hour and a half one.

[Indiscernible--low volume]

Are we going to break for lunch? Okay? So what time -- one our. We are going to reconvene precisely at 1:00, 57 minutes. Everybody know what to do we will be back here and continue with open session at that time. Thank you.

BREAK FOR LUNCH [The session is on lunch break. The meeting will resume at 1:00pm EDT. Captioner standing by.]

[Captioners Transitioning]

Why don't we reconvene. We will now move to two concept clearances both of which were discussed initially at the last council meeting. A lot of activity is taking place for both including conference calls and conversations. And we are going to start up with [ Indiscernible ] presenting the genomic sequencing and newborn disorders. Spin it I'd like to start off by welcoming our guess from AJ as a teen urban Melissa [ Indiscernible ] you're sitting here. If you have questions I might also refer to them.

We presented in February a common -- conference for newborn sequencing for a award mechanism. The gold would be to stimulate research in coordinated areas of applicable to newborn screening at which it being as acquisition and analyst of genomic data sets. And then related research in regarding ethical and legal and social invocations of implementing this type of broad G&A screening in newborns. This will be funded by an icy HD and NHGRI will be committing $2.5 million per year for five years.

At February counsel represented to related proposals. The first of these was in SBIR which was approved in the second was 19 award which was deferred to the session. To give you background this has been a long process we've been going through working with an icy HD developing this concept. This started at a workshop in 2010 discussing newborn screening and setting a research agenda that was sponsored jointly by NAC HD, NHGRI and go RDR. And a CHD Council in January as well as the presentation here in February where though we heard in general from Council that there was a lot of approval this is a good idea it seems like everyone had a bit of a different picture as to how this initiative should be structure. We heard a number of concerns from Castle and we group them into five main categories. The first of these we need to do a focus on a clear scientific rationale for what we expect to learn. The second major concern was related to population selection and we should consider the added scientific value of broadening the study population beyond the confirmed a positive newborn screen individual. We also heard from Council that the 500 gene targeted sequencing didn't be -- wasn't enough of an advance. As well as the LCI concerns. And overall study design and the second Ealing with public perception and public relations and how we would be doing a consent for the subjects.

We revise the concept in Tibet to our Council subgroup in April. Through a series of further revisions both with subgroup as well as an icy HD we came up with a new a final clearance to present again in may. Made a number of changes based on feedback from Council as well as staff at an icy HD.

The first concern that counsel had raised related to the scientific rationale for this initiative. We've identified three research questions for these applications to focus on and the applicants would be to select one or more of these research questions but then this would provide more focused to the initiative. The first of these questions is for the services -- disorders currently screened and four in newborns. The second is what knowledge about conditions not currently screened for in newborns could genomic sequencing of newborns provide. The third is what additional clinical information could be learned from Genomic Sequencing relevant to the clinical care of newborns.

What can genomic sequencing add to newborn screening as well as additional knowledge related to the clinical conditions. Related to some other Council concerns we decided to broaden the initiative to include positive and negative screen individual's so any individuals that have no newborn screening results. We've removed the 500 gene targeted sequencing and requiring either whole or whole sequencing. We've asked the applicant to tailor their research to the context of a sequencing and the research questions that they are looking to answer and so this relates to a few are looking at individuals that have a known disorder and already I have tested positive for newborn screening you may be asking for different questions relating to your LC research as far as different results if you had looked at an individual that had screened negative.

We also are requiring a description about the consent process and how the applicants would return their results within the applications themselves.

Like to thank everyone here as well as the pope at an icy HD will help develop this joint project. And that -- with that I will take questions.

Go back on the slides. The ones where you have a B&C.

So I am trying to understand this. I think when you talk about screening a newborn now may be -- the screening is done with there is a problem or all-new?

All newborns are screened.

Said that he would be -- so now the discussion about not doing target that doing whole ex-Aum you would sequence -- the research projects.

Sequence of newborns regardless of phenotype. And -- whether there is a problem or not.

The applicants could propose a research project that would relate to a specific datatype or they could propose to look at individuals that didn't screened positive for one of the known screener types and that could be their is another phenotype that is relevant to newborns that they're interested in looking at or individuals that are expressing a genotype they want to learn more about.

Okay. I see.

I had one question. The constant clearance reads and what was distributed. I think very appropriately be LC component is preferred as a necessary component. I just want to make sure everybody knew that in your presentation that is not -- it's not as clear that my own feelings are that not at all clear whether newborn screening is -- in genome sequencing will be -- but we will have the idea come up in the communities. It is a special population and a vulnerable population that the RFA itself needs to make very clear that that needs to be a permanent component of any --

All applications would be required to do research in all three component areas being Genomic Sequencing and the clinical research as well as the LC research of these questions are focused of the different types of research projects.

Correct me if I'm wrong, but we will use similar language we use for this user program. It is clear that if he didn't do well in all three -- all areas [ Multiple Speakers ].

I could see that as a primary research question. And that doesn't come across as much. I think that's -- are you saying that you might have grants where they have only that component?

They have to have all three applications. Is that okay. So one way to avoid people attacking that -- attaching this on the end of their grant is would be to put it as the first thing that they talk about. When you think about it if you were going to do this you better have that figured out before you start. So maybe make that more clinical and put it up front.

[ Indiscernible ]

What I can see the value of newborn screening for doing this it -- dealing with disorders with high [ Indiscernible ] I have some concerns about when you are going to find areas especially in XM that give rise to conditions where the outcome is not -- certain. So they could increase risk for learning disabilities or autism for example and you stigmatize that child and think about early interventions and I think some work needs to be done on the LC side and not for the clinical side to understand the balance between wanting to do early intervention which may help a child versus the ethical issues related to stigmatizing a child and you may be perfectly -- have a normal outcome because it's only a risk and not a certainty.

I think that's part of the reason why we really wanted the researchers to [ Indiscernible ] their LC research and clinical research as well as results returning based on what research question asking and the particular that research to that question itself because depending upon what phenotype looking at what desserts -- results of a return may be different than what is appropriate may be different in depending on what questions they're asking.

Is that a concern of yours are you raising it an important area that might be investigated by an application?

Since it is a concern it doing that. The problem is you don't know the outcome for next year so you have to do longitudinal studies to understand and understand talking to parents whether they want -- how do they balance their child being stigmatized versus having an early intervention which might help them. The problem is the studies are going to take -- they're not something you can do in a short period of time.

I'm not fully figured that out. I'm saying it's even harder on the simpler ones in the sense that put adult onset disease like Huntington's even way back when you don't -- do you want to do that and know that information when there is not much you can do about it. And to stigmatize it.

In some cases there are things you can do. There are interventions that can help. And you will find these more frequently but with the common disorders.

So what I would say Tony in my own opinion is that this concept clearance would hopefully attract applications and research proposals that would start to look -- we would have to evaluate whether they would be too long term and details we worked out the Web. But the details you lead with our some of the LC issues which we as an Institute uniquely bring of having a cadre of researchers in the LC community we help foster that getting them involved in some of this and partner with Child health and we would be bring this expertise around newborn screening more broadly.

Is there any way of partnering with return of research results initiative which is looking at pediatrics that -- pediatric emerged. That might as -- offer some additional multi-back -- [ Multiple Speakers ].

We would like to have additional groups discuss this, yes.

Anyone else on counsel?

Child health folks, if there's anything you want to add to this. Your find, good. -- You are fine, good.

So we require a vote for this and looking for emotion.

Moving approval? Is there a second? Second. Any additional discussion? If not I'll -- all in favor? Opposed? Abstention? Couple of extensions. Several extensions. Thank you.

Next up airing remotes on clinically relevant variance resource.

Thank you Eric. Good afternoon everyone. I want to extend a welcome to my colleagues from AMD. Association for molecular pathologist for joining us today and we may also have colleagues from the College of American pathologists listening via webcast. So if you were there thank you for joining us. This presentation was a very similar flow to Anastasia's. In February of 2012 we also -- we bought a concept to counsel and the focus was on to develop a resource that potentially actionable a genetic variants for use in the clinic. This concept although I think there was support in general from counsel there were significant concerns that were raised that we took back with us and consider to bring back to you here during this Council session. The original proposal focused on supporting identification and dissemination of consensus information on potential actionable genetic variance in clinical care. It has three main goals, identifying genetic variance for the patients for clinical care, developing clinical decision support systems, and building upon it and unifying existing programs with the hopes of reducing duplicate of efforts across research and clinical organizations.

So to put this into context we had been thinking about such an initiative over the past couple years Eric and Eric is heard from numerous colleagues at the present at various meetings and it should take some leadership in integrating all this information on the variance that are being identified. And we've also heard it at a variety of populations around the community has a teeny. So based on that we organized this workshop in December 2011 title characterizing a display genetic variance for clinical action. Then we took some of those ideas and incorporated them into the concept clearance we brought to you in February. Again the concept was deferred. One of the main concerns we heard from you in February was that this is an important effort and it touches on more than just an aged [ Indiscernible ]. As many professional societies that have a stake here they have relationships and represent important communities so that will be using this implementation of the clinic said that was important for us to reach out to them and see if we can partner and moving and effort this -- this effort forward. After counsel we initiated some of these conversations and we've had great interactions with ACM G&A MP and a SAG and as I said to the AP.

We formed a council subgroup to further discuss some concerns are raised in February. Based on that discussion we revised our concept document and so related that to our subgroup and had additional conversations with genome staff of their colleagues in other organizations around the NIH and revise the concept a bit more antiquated that final concept to the entire Council in May.

What we heard from you in February and -- NHGRI must be clearly viewed as a leader and not just finding another group to produce a gene list. If we want to produce this initiative and grow legs and be adopted it has to be seen and understood by the community we are driving force behind us. There is concern about the number of awards whether a significant single order multiple awards would be the appropriate way to go. There was a concern raised for the potential for single award each produced a less optimal product. There is concern raised of the book should be on generating that first list of genes and not focusing so much of the variance because we know that list will continue to grow the consensus process must include a clear hand off to professional societies were guideline development so that NHGRI can play a role in pulling this information together and synthesizing what we've learned and then working with the grantee to provide the information any packet that the clinical societies could use to develop guidelines which then could be used by the clinical community. And of course it would be best of other ICs collaborate or clearly support the program so we heard the need for this to be an NIH effort if possible. Again I want to thank the members of our subgroup so that anticipated on our call a subsequent e-mail conversation, and also for colleagues in the professional societies that participated in that call. It was a great discussion. We were able to -- expand the discussion around the concerns that were raised and make revisions to our concept based on these discussions. So to address the first concern raised in February we did specify involvement of ACM G&A MP as co-leads on this initiative and in the title we included an aged year I along with these organizations. And specify throughout the document it was important to collaborate with relevant professional societies and other organizations that are stakeholders in this effort.

We emphasized the need for collaborative effort and we did discuss the possibility of having multiple awardees but it was decided that may not be a workable approach. So although we are sticking with a single authority we've emphasized that NRG -- NHGRI will provide leadership to this agreement. We clearly are ticketed data to get laid it there will be a government structure that includes NHGRI and other professional societies that would be included on the various committed -- committees that are born. And other stakeholders that we feel are relevant.

Did clarify that the applicant would be expected to describe the rationale for focusing on genes were variance or whatever approach they choose we want to -- a clear description of why they're focusing on that task.

We also drew wide line between the rising be as evidence in developing consensus findings and producing a clinical guideline which could be outside our purview so trying to clarify the language so everyone understand their role and we would try to hand off this information in a packet that could be used by professional societies to develop guidelines.

Along those lines we eliminated the aim to focusing on clinical decision support. We heard the need for clinical decision support tools is certainly an important one that with this effort we would want to develop clinical decision support tools on our resource because our resource would have the information on potentially relevant genetic various that would have had that stamp of approval from the professional guidelines. We wanted to make it clear what this information will be used for and that clinical decision rules can be developed down the road that this program is one step in that path.

After we circulated that revise draft to our council subgroup we had follow-up conversations and made relatively minor revisions. We have -- we will remove the organization names from the title. We heard from an aged year I -- NIH that nonfederal groups can be listed as participating organizations on any funding opportunities. The reason we included these societies in the title was to indicate to the community that we are serious about working with other societies in making this a collaborative effort. I think in the end by removing the institution and the title is benefits all of us because it allows us to be more inclusive and make sure we hear from you and others to the relevant societies are and include them in the process. We've had some great conversations with the College of American pathologists and also at had conversations with HG and incorporate those groups in the revision.

We've changed our name again. For those of you even prior to the workshop we have been referring to this resource as ClinBase an we learned that was trademarked. Then we learned about ClinAction although we've heard from some of you that the action applies taking an action and we didn't want to confuse the community by thinking that all the variance in this resource meant that you needed to take action. So that one is out. So while they're calling this the resource formerly known as ClinAction and you could superimpose my face on this. That's what I felt like. We decided to be boring and refer to this as a clinically relevant variance resource and hopefully if this moves forward it work would be a warty and the steering committee to come up with a more appropriate name. We're going to leave it at that. So I summarize some of the changes we may and articulate what this looks like in a revise purpose and goals. This is our original purpose and goals statement. We've modified the purpose to read to support a process for dedication and dissemination of consensus information on genetic various relevant to clinical care. We removed that emphasis on potentially actionable. The first goal identify very and with implications for clinical care and disseminate evidence. This is broad and disseminate evidence part needs to be described more. So identify genetic variance is likely implications for clinical care. And incorporate these areas in evidence into a resource can serve as a substrate for development of guidelines.

We eliminated the second aim of focusing on development decision support tools. And that was changed to focus on establishing this process for transferring this information to an organization for development of these guidelines. Hopefully the grantee and the steering committee can work with the societies to nature we collect the right information and package it in a way that can be useful for the societies to review and make further decisions on which variance they would like to recommend moving forward for clinical use . third aim hasn't change. Build upon existing programs and unified these efforts to reduce duplicate of efforts across research and clinical organizations.

To drill this home attacks has changed. We emphasized the seems to be multi-institutional approach and to bring in a similar effort to interpret -- different perspectives. We've highlighted the close involvement with other societies and appointed steering committees. We will work with our professional society colleagues to facilitate consultation with other important stakeholders including regulatory agencies and clinicians etc. The applicants are expected to survey the landscape of ethical legal and social policy issues regarding results supporting and try to integrate these and build these into this proposed effort.

Applicants are expected to describe their plans and the text of highlighted in orange is new.

Approaches is -- approaches for grouping or bending genes were variance in two categories were clinical relevance. And plans for dealing with the provision of variance were genes that as an initial manageable approach.

There hasn't been any change to the funding so this is what you saw presented in February for Gobi only other comment I would make is that we have reached out to numerous other IC colleagues to find out if they are doing similar efforts because we heard from you and we didn't want to duplicate other efforts. Because the work we are aware of the at IDMS with the pharmacy KB there hasn't been anything else presented to us. Other it colleagues support the GI taking a leadership or so -- position. We think our council subgroup in helping move this forward.

I guess Eric if we could ask any of our colleagues in the professional societies that have been working what does that you want to add any comments before we open it up to council?


Switch on that microphone. Make it live.

This is Mary Williams from the Association for molecular pathology. Dinky for the proposal. I can tell you that our members are mostly in translational research and clinical practice. Genomics is moving so fast into clinical practice that is now being described as the wild West out there. And that doesn't make our members feel very good. Because that gives sort of the picture that the decisions are being made around a poker table in the saloon where that surgery is happening on the bar. And -- there are guidelines that need to be written to help guide colleagues in clinical practice and these guidelines are very expensive to produce and for evidence-based guidelines and not just consensus guidelines. They need to be coming out not just once every three years. Coming out with multiple guidelines per year so we want to thank the NHGRI for proposing this.

Thanks very.


Joe [ Indiscernible ] from AF G. I would like to thank and congratulate the staff of NHGRI for engaging the community in different ways. At least I've not seen this in the last decade in the process of a concept clearance. A SAG is pleased to be named in this. I think we can -- we have members who can contribute a great deal to this. And our leadership did react pretty strongly to the original concept clearance and that is for two reasons. First, because this is so important to all of us and secondly, because we think it is so broad in this process of development and engagement and then eventually dissemination. That we wanted to make sure it was done right. the devil is in the detail of course. But doing as together we can get it right.

College of medical genetics. This is than the stab in getting genomics and genetics into clinical practice and it has been the existence of guidelines they get it out of the hands of the rare disease experts. And I think Mary hit on one of the clear problems and one you'll have to think about guidelines themselves are very expensive and a lot of the expenses building the evidence base. The evidence base can be built in a way that makes it much shorter trip to the guideline. I think there is a lot of steps along the way. If you look at Blue Cross Blue Shield, one gene test assessment is $100,000. To do the evidence-based. In the guideline that comes off of that. Depending on where you draw your line between informing the guideline and allowing the professional groups that can be much less expensive than I think I give a fair bit of attention to that. We are extremely interested in this moving forward. But it's not just the laboratory thing. This is going to be a very strong clinical and multispecialty multidisciplinary genetics is multidisciplinary and multi-organ in many of our condition spread across multiple systems. So it will be a very interesting involvement of his medical specialty world in a way that the different through NIH.

Thanks Mike and I think that's a great point that we want to bring those professional societies together at an early stage so we can hear from them what information we need to work with a grantee to collect how we can package -- presented and make it the most efficient type -- pipeline to get the information from the beginning package in a way to develop these guidelines.

Any other questions?

Open it up for council discussion now.


I would like to reiterate that final point that although NHGRI was taking leadership on providing the database and the evidence behind those variants being clinically relevant we need to have a plan for how the professional societies are going to develop the guidelines because it can't be done by volunteers. It would require funding and I think that point about is where you draw the line about what you're funding together evidence on what's clinically relevant will lessen the burden to the professional groups to develop the guidelines. So I think in a way you will be taking part of the lead on that side of it as well. It depends on where you draw that line.


I characterize the leadership differently. To me the issue was not so much the NHGRI be the leader although that's fine but it be clear that this is the place that this is an again just one of many gene lists. I did wonder as we were doing -- going through this whether it's a place where other institutes could be engaged in terms of helping to support this because again just like last one we talked about this is one that multiple institutes are interested in. I don't know if that is possible.

We have -- in my conversations with other institutes trying to get a sense if there are duplicate of efforts I've circulated our plans and have been heard back from preliminary will he at least one or two institutes that are interested in co-funding. So that's something we're interested in. We recognize this could be a shared effort.

That would be helpful.

I inferred that the [ Indiscernible ] to make this a comprehensive list a complete list. And the path to how you get there, is it going to be prioritized in any way?

Yes, in the language of the context we would ask the grantee to prioritize how they would bend the variance of that are compiled into those that are more ready for clinical action. Might be an intermediate band with his more information we need and what is information then -- clearly these variants aren't ready for incorporation into the clinic. There other ways to benefit and that is something we want the grantee to come up with a proposal for prioritization and they would work you that the steering committee to figure the best way to prioritize the variance we have.

What Mike just mentioned I think is really important and it might be that something along these lines could be included in the RSA and what I'm getting at is in addition to it being highly desirable for other institutes to help the sponsor an effort like this, I think that the right applicants will also perhaps bring in non-geneticists and I'm thinking for example of a specific situation when we were recently going through lists of things, many of us had assumed that QT associated genes known [ Indiscernible ] beauticians in these would be -- mutations would be in one. Highly actionable. It looks like as you learn more about these things that there are certain genes were we know enough to say that's true but others where we don't and take a cardiologist to tell us that . a long-winded way of saying it might be useful in the RSA to encourage the participation of experts -- having expertise in the conditions and not completely the genetics.

I agree with you completely. In fact, one way to organize sifting through these piles of various is to organize into domain specialties of disease expertise. So we could bring in experts or oncology all a G. or cancer related expertise or diabetes and that would not only have the genetics expertise that they are familiar with the conditions to be able to make real decisions.

One of the questions I think I asked you this question four months ago and that is how many gene variants of our there other than one?

It depends on what day you catch me. Let's just say that I think most of us feel very comfortable that it would be fewer than 100. And many of us would say far fewer than 100 depending on how you [ Indiscernible ].

As a follow-up to that is this a five-year project?

I would think it is. For two reasons. One is that that -- those lists are going to change. The other thing I think clinicians need really [ Indiscernible ]. What do I need to tell people in a less life-threatening and short-term that I can do something about. That is the easiest question. There are many other questions about how to characterize these results that very on all kinds of parameters. Including the impact on people and learning this information. I think there is plenty to be done here.

I would say the first year particularly we need to work with the steering committee and the grantee to get the framework in place so we can test it on these first set the variance and we want to take that framework and apply it to other variance along the way. It could take a couple of years. Towards the end come back and revisit the variance that may have more in implementation so we could make decisions.

Only to encourage you to recognize the highly important informatics will be in that if the systems don't practice -- follow practice guidelines . over 50% in reality when you go out and survey them. Clinical decision support tools integrated into electronic medical records is where this is going to get disseminated so it's well vetted and gives people guidance of the clinical scenario. So the MLR -- EMR efforts to develop the standards are going to get attached to this closely I think to be successful.

[ Indiscernible ] important thing to do and I really support the idea that NHGRI is going to take us on as a flagship being too that there [ Indiscernible ] on. The thing that concerns me a little bit is distinguishing it from other existing efforts from [ Indiscernible ] to HMG D. to all the other databases that have people and try to put together on what are important variants you need to flag and know about. And secondly how it will overlap and it should go hand-in-hand with the [ Indiscernible ] centers and the work they are doing. I imagine as we're talking about both having a really great database known -- no one highly penetrant [ Indiscernible ] is one thing and another is things that you need to screen and know about because it would be really as it is not to return that information to participants once you know. An degree in that fine line is really the whole challenge that the spaces and it's not an informatics problem. Implementations can build databases and curate them and to carefully so it's not polluted but for you draw that line is totally different issue. You want to think hard about what it is you will ask of this resource particularly if you are not going to want to fund this into opportunity by create it in a way that it is a really good systematic way of building that resource so you can continue to build it and make it available.

That's a great point. Part of the reasons we're trying to engage a society that is tickled as early to the steering committee is to hear from that he what data point they need so we can make these decisions so we have the critical information in place. We have also -- we are talking with NCBI and the various resources they have to see how we can grenade efforts to take information that we develop and incorporate into their system and advisories a so we are more easily synchronizing the information we have.

To your point one of the things that this has over [ Indiscernible ] and this is exactly that process. To engage the stakeholders. There is a little bit of experience with this in research network with the city pick a guideline and I think that provides a model for how to go forward.

Is there any thought given in terms of reach through. I appreciate the way you drew the semi permeable line between creating the evidence etc. and handing it off. What if the guidelines [ Indiscernible ]. What if there is no takers and nobody -- we party spend our money on creating guidelines. Can handle another eight. What is the responsibility of identifying these if there's no receptor node?

At that point we would have to revisit our role. We will do our best to put the information in a way that can be used again working with the societies. It's expensive but if we can take on some of that by curating the information and moving it forward. We want to evaluate this resource along the way and make sure the information we are presenting is being used and hopefully it will be. And I expect it will be but it's a fair point and we can come back and revisit how we want to move forward. In helping facilitate getting these guidelines to come out of the resource we put together. That will have to be collaborative with the societies and other folks.

We must've learned a lot from the variant guidelines and establishment of that. David [ Indiscernible ] target the [ Indiscernible ] meeting. Is the same kind of problem trying to figure out -- different types of data you are dealing with but is that what the issue is? At what you are trying to learn by doing this RSA or is it -- do you know what I'm talking about?

The consortium?

Yes. They are having their international meeting today and tomorrow so I will go to that meeting. That is one example of that approach for pulling this information together so they have a database that can be used for those genomics community. I'm not clear on the approach they took it coming up with the data that included in the database but we can learn from their approach and any information we can integrate from evidence they are to have into our resource [ Multiple Speakers ].

Of thinking about the by improvements in. A lot of people accepted that. I don't know what the process was and who was involved the weather was the group's better talking about this one as well.

We can learn more from data -- David [ Indiscernible ] along the way. That's a good point . okay. No more discussion, looking for a motion on this concept clearance?

And motion. Second? Okay. Any other discussion before we vote? All in favor? Opposed? Abstained? Okay. Your approved. Thank you.

Are you ready?

So the next presentation is -- a little history in that I would tell you that almost from the first moment I became director 2 1/2 years ago consistently I get asked when I'd travel I get lots of questions about the needs and training in genomics and that is very broad. You're talking everything from more clinical to more basic. The whole gamut. A different entry paths into this and graduate student level and clinical and so forth. And so one of the things I asked -- take a fresh look at. After we were done with the strategic plan getting that out was to take a fresh look at the big picture view of our training portfolio. And so there is a subgroup of counsel that we have interacted with by phone and that he has been captured this -- been trying to capture this because this is a presentation introducing this and to have some discussion about what our training portfolio looks like now and what we might want to do in thinking about it moving forward.

So this presentation will involve more basic topics. A summary of the small group of a Council discussion. A review of our training programs. A review of what NIH is doing. And what we have identified as gap areas. And future directions which is open at this point.

So the members of the small group included Mike banking, Carlos [ Indiscernible ], REX chisel, Ross Arneson, Amy McGuire, Howard McLeod, and Deirdre Meldrum.

The purpose of the discussion was to respond to the communities need for more training programs in light of budget constraints and Eric just told you about why he -- when he is out giving information about NHGRI the question of training also comes up. I probably at least once a month will get an inquiry from someone he wants to start a new training program. To review NHGRI current training programs and assess how they are -- aligned with the strategic plan. To determine what are the gap areas in NHGRI training programs and what other institutes considers it an -- doing in these areas. And then a more open discussion to determine how to shape the future of NHGRI's training programs and how to accomplish this. So by way of background, you are all familiar with the 2011 strategic plan and which it really expands the researcher mission of NHGRI. And as a result of that it's important to look at our training and career development mission to see how it aligns with this to do plan. So we had a small group of council members have a teleconference in February. We identified a path forward by identifying gap areas and [ Indiscernible ] portfolio and they recommended a fact-finding effort to help refine the issues. Specifically what they had asked us to do was to go out to all of the key 32 program directors to ask them what are their goals and how do they see their program aligning with the strategic plan. They also wanted some information about the strengths and improvement of the program from the perspective of trainees.

So the discussion with the small group, they identified or they said there was expertise a lacking in the work horse to take advantage of new knowledge. And some of the areas they identified were statistics, bio informatics, translation of basic genomics to the clinic, development and exploration of new technologies for early detection of disease or discovery of new diagnostics that would more effectively translate discoveries to the clinic, clinical science, healthcare economics, and they also had a number -- another area because this is a small group of it by council members might have additional areas they wanted to add.

We also had some discussions about what are the appropriate training vehicles and whether they are training grants or small efforts or whether they were career development activities. How long should the training be and are we looking at short-term or long-term. Who should be trained or are we looking at basic biologist versus clinical clinicians. What should be -- there was a lot of discussion about genomic medicine and since this is an entirely new area for us especially with the training what should be the equivocal elements of a training program. And the big question is should NHGRI partner with the disease institutes of which -- for training and genomic medicine. There was a discussion of the continuum -- continual areas of need. So the idea there is where we may try to move to the right, we still need to be cognizant that they are areas we still need attention and. Some of those ideas were that all students must be trained in a bio informatics and statistics. At basic scientists must be prepared to conduct a research on the right-hand side of the density and that is the side that is moving more to the clinical applications. At that individuals need to be trained to develop methods for analyzing and interpreting large data sets. More individuals need to be trained in a bio informatics that there was a big no year that bio informatics is an NIH wide problem and not one that is just specific for NHGRI.

So now we come to the review of the NHGRI training program. This presentation will include a list of the training grants, the goals for each training grants, and the trainees comment on their programs that they participate in, strength and suggested improvements.

So you can see here we have 12 training grants. And they are listed here from the ones that were originally made when we were sent down to the more recent ones. They include the University of Michigan, University of Washington, Stanford, pen, Washington University St. Louis, University of California Berkeley, and Los Angeles, Harvard MIT which is moving to Harvard, University of Wisconsin, Gail, Princeton, and then MIT Whitehead [ Indiscernible ] combined grew. You can also see that the number of slots there is tremendous -- varies tremendously. And not all programs are including both redox and post docs. We have a total of 129 pre-docs and 32 postdocs and seven short-term training and our investment in this is about $7.5 million.

So now we will get into detailed information about the goals of of each program but this discussion I am more or less included verbatim what the programs present. Except that when we come to the trainees comment I removed some of the attributes to particular individuals and not because they were negative. There are positive but I thought that where was important I don't think it was relevant to what we were considering here. So with the University of Michigan, their program goal is to provide training at the interface between genetics, genomics and the mathematical sciences with emphasis on trainings human geneticists and human molecular geneticists with a strong grounding in statistics. And University of Michigan feels that it is -- it's current program is very well aligned with the current strategic plan.

The University of Washington their goal is to prepare pre-and post graduates for a research career in genomics, Prodi I'll make some competition of biology. They talk about the course is that they have initiated and trainees are continually exposed to the genomics research and translation of genomics at the clinic, the trainees and mentors are clearly innovated and leaving the use of genomics and medicine. And that program needs development is bioethics and human, -- human subjects related to genomics. For them it was mostly trying to focus more now on the ethics part of their program.

Stanford University they want to training students and post docs to be innovative leaders in academia and industry by utilizing our diverse array of faculty advisors who are experts in technology development and functional genomics and clinical genomics. Our graduate students and post docs have the opportunity to work with both of basic and clinical research and scientists to carry out projects relevant to the strategic plan. And here they say that they are already heavily aligned with the strategic plan. The vast majority of the labs in the training grant focus on one of the three basic science goals. We also have clinical mentors in the program. There is evidence that the university is moving more toward personalized medicine and that they are aligning with that as well. And that they are recruiting in the areas of computational biology.

Pen, their goal is to produce a PhD scientist who have a solid background in genomics, modern biologist statistics and computer science, who In one of these areas and to our strong researchers. So they feel their training program is the one with the strategic plan. And they also say that outside of our training program they are also allotting themselves with the clinical component at pen for which they will now be requested funding from NHGRI.

Why -- [ Indiscernible ] it they want to change a numbing scientist to address significant questions of fundamental biology and translational science by combining cutting-edge competition will and molecular methods. Most of our trainees come from the mathematical or the competition will background areas. We require them to take rigorous courses in the fundamental theory of genomic analysis. And apply competition will genomics. We trained them on a dynamic integrated and multidisciplinary research environment. The program is already aligned with the strategic plan. And the most important features of their alignment are a strong competition a laugh medical component and emphasis on technology development and exposure to medical applications of genomics.

University of California Berkeley. They train the next generation of leaders in the generation, analysis and interpretation of genome scale data sets. They say this program is relatively agnostic as to which organism a species of studied. Focusing instead on the mathematical and analytical commonalities especially in competition will genomics. We will use the next several years of living up to our next competing renewal to examine our training program and in light of the strategic plan and add additional components as appropriate.

University of California Los Angeles. Their goal is to teach students how to design and implement new methods for identifying genes that influence disease risk as well as normal trade barrier Asian. Our goals and training focus -- there's well with the goals articulated in this strategic plan particularly those that relate to bio informatics and confrontational biology.

University of Wisconsin. Their program embraces cost, disciplinary studies that span across the basic sciences with special emphasis to the recruitment of engineering trainees and trainers. They deal with their plan is aligned as well and they indicate that they are adding faculty with extra -- expertise that integrates genomic and clinical practice and that is where it they are heading.

Gail, their goal is to train graduate students in modern genomics and 30 on mix and prepare them for a career in biomedical research and teaching. The program will -- emphasis in three areas. Biology of disease, the human microbiology, and professional development and education and teaching. I think Joe and those men is the very strong in education so I think you can see where the emphasis is year is on her move and not only to train researchers but also individuals and teaching. Princeton University their goal is to facilitate graduate education at the interface of biology and the more quantitative sciences and competitions. They have a relatively young program already focused around you know mixing quantitative competition will biology. They feel that their program is already well aligned with the strategic plan. Lastly the MIT [ Indiscernible ], they plan to produce a new breed of interdisciplinary scientist you can create fundamentally new additional and mathematical approaches that enable significantly far word progress on biological and health related problems using competition all approaches to genetics. They feel that in general there plan is aligned with the NIH goal but they are taking further steps to improve the training program by increasing our coverage of quantitative topics in genomic medicine.

So that sort of is a broad sweep of what these programs are about. Now we get to the trainees and prescience. And what happens here is that we ask every program director to go out to their trainees and taking a cross-section of those that have already completed the program to those that have newly completed the program and to ask them the one where the strength of the program and what were they recommended for improvement. So for the University of Michigan, the strength of the program were the multidisciplinary design of the program. It was excellent and it provided biostatisticians with a superb comprehensive training in genetics and epidemiology. Another comment a valuable framework for which to complete interdisciplinary training. While the university has essentially unparalleled resources as [ Indiscernible ] is difficult to prioritize training training that match specific goals. The training program provided that organizational medium that student needed to make that program is successful. Than the opportunity to learn more biology while can -- completing my degree in statistics through a structured curriculum as well as various talks and seminars. The opportunity to fully focus on my dissertation research without worrying about how a I will be paid. And the program enabled me to network with students, docs and faculty across University who had similar research interest. They talk about the annual retreats being very useful and to hear the perspective of multiple faculty on these various topics was extremely useful. Some of the suggestions for improvement one person said they had no suggestions the program was stellar. Another one, I cannot imagine anything that could be improved from my days on the training grant. Another one said interacting with students from other departments is one of the most useful and enjoyable parts of the program. And that individual suggested increasing that kind of interaction among the groups. Another one said to create more opportunities for students to present their work to other trainees as well as affiliated faculty members.

The University of Washington, the the training program and symposium was valuable giving research reports and [ Indiscernible ] on a yearly basis. These requirements really shaped my scientific communication skills as well as liability to comb through and understand the literature.

Another comment. Learning molecular biologic and chemistry for the first time alongside a students and we're learning probability and competition of programming for the first time. Another comment. At the training grant and the encouragement of the department I made several connections with the faculty members outside of the training program that might not have otherwise happened. Some suggestions for improvement. Focus the ethics related training on emerging topics of related clinical applications. And then incorporation of medical testing issues that informed consent. This individual is saying they want more information about ethics and how it applies to modern genomics.

Stanford University. It created opportunities for interacting both with other trainees all of which were a high caliber and then clinicians involved who were all at the top of their fields.

I had the opportunity to work very closely with clinicians and researching [ Indiscernible ], disorders through genome sequencing. This cultured my interest in clinical and personalized genomics and I went on to join a personalized genomics company called personality at continue in that line of work.

Most valuable experience with the inaugural course engine on legs. This person is now assistant professor at Yale and he indicates that his experience at EL was very similar -- a seminal and helping us get his first NIH grant. And he is collaborating with a lot of other people supported by any H. Another individual said the monthly meetings allow trainees to present their research and regular contact with students and faculty. They would genome oriented research.

These individuals who replied did not indicate any things that could be changed so I did call up Mike Snyder and I sent all of the comments are positive. There were no negative comments. So he said he couldn't explain that except that her have so maybe some of the students were so far out of the training they felt that commenting on what is currently happening in the training program would be inappropriate. That was just his take on that.

Some of them had finished 2005 and 2003. We wanted to get a cross-section of those who administer early versus those who had finished a more recently. But it was up to the PI to make a determination.

If I understand you right, all the feedback has been collected and filtered through the program directive?

No, it wasn't built up through. But the program directors did is they sent me directly to comments from the students. So they went out to them and said could you provide your comments on the strength of the program and improvements. So they wrote back and said dear Dr. so and so, these are my comments. So they send me the files up for what was sent to them.

Is there a reason you wouldn't go and get the comments it directly from the people in the program?

Well, it would be a hard to know who to contact. They would probably give the people from 17 years ago would've given me probably 40 or 50 names. So I think what you will see at the end of this is that there are some common themes that are strings and needs for improvement and all of these and I think that's one way to calibrate people's thoughts.

[ Indiscernible - Low Volume ]

Can you hire somebody to do the survey? I didn't realize [ Indiscernible ]. This is not going to be scientific if you are [ Multiple Speakers ].

I don't think this was meant to be a scientific -- it was meant to capture some of the thoughts about the program itself. This was not an evaluation of the program.

Penn said the facilities and faculty are fantastic. Lots of support available. One person said the seminars a series of the opportunities to meet and talk with visiting speakers was a good thing. Multidisciplinary program gave access to [ Indiscernible ] for many different disciplines. And the other one said that the chalk talks and funds for research were strength of the program. In terms of suggestions for improvement, to hold occasional programming events aware past and current trainees could get together and share their work. Set up a weekly or monthly meeting so the trainees and bite -- invite faculty to come in and students to talk about the research. More opportunities to present their research and post and talk forum. And one person had a couple of bullwhip the supply of funds. We didn't get clear instructions on how he could use it so we had some concerns there. But [ Indiscernible ] said the positioning of the program is in a unique multidisciplinary environment. Where experimental biologists and geneticists and computer scientists mingle. That was a positive for them. The program and field data provided important foundations of my postdoctoral work. The training program enabled me to be more efficient -- more efficiently conduct my research that merges computational experimental approaches to address important questions in basic biomedical research. And another one said one aspect as I found particularly advantageous was the ability -- availability of travel funds so they get to meet other people in their field. Suggestions for improvement. I imagine I would benefit more by interacting more closely with other trainees. I think it could have benefited from additional feedback on my research program from a variety of faculty members.

Berkeley. I dreaded the ethics course but after taking that I definitely had a deal for broader understanding of how to approach ethics questions. Funding for a stipend and travel were great. As opposed to dock the individual research training and mentoring was good. The coursework was indicated as a strength. As well as of the lectures and theories that were supervised by the faculty members. But given by students. And one student made the comment that while he was a graduate student in this particular program because everybody was like each other in terms of their background and whatever they were not considered special. But he took a position with Pablo and worked on the Neanderthal project and he arrived there at an opportune moment so that his expertise was very critical to the publication they came out and he said then ever realized how important his skills were in till he was sent into an environment where that type of expertise was lacking. So some of the suggestions for improvements. No real central organization of the training program. I do not remember meeting any of the other genomics trainees. There was ever a clear explanation of what educational resources were available to post docs.

University of California Los Angeles. They talked about the courses. The class, the core and two classic with the the program gave him a broad introduction to the key topic -- topics and genomics. The breadth of the coursework and the mentors. Some of the suggestions for improvement is a consideration should be given to formalizing instruction and to a purchase of scientific investigation. Hypothesis driven research and discovery driven research. The seminar series they suggested that more could be done there. And they also talked about to familiarize trainees with issues of managing and leveraging our logical big data should be offered. And I think the next comment was along the same lines.

So the Harvard MIT ability to take coursework into research across the hub at MIT system. The stronger faculty and fellow students. The clinical training. And the strong integration with a medical school including exposure to translational research and clinical practice. Some of the suggestions for improvement was initially not knowing how this training program different from others. And more opportunistic -- more opportunities for the students to interact with one another and have a common experiences. Having a central core of resources that suited the commuters to which it is inadequate progress towards their thesis work. And intensive a rigorous core bio informatics course for all students to lay a common foundation. And base qualifying research proposal rather than generic bio informatics curriculum.

At the University of Wisconsin each person has a valuable opportunity to present and get feedback. The interdisciplinary major of the program. The training was the truly effective and given students a broad perspective on the statistical biological and competition will challenges that are inherently -- that are inherent to large data sets. The ability to unite people from different fields to work on important medical problems. And the bringing together people from diverse fields. So this program had a lot of multidisciplinary interactive things. Suggestions from improvement. It would be beneficial for the trainees revenue opportunity to write a proposal preferentially based on a new ideas that is collaborative among the trainees and the faculty. The program should incorporate some type of journal club that will allow for discussion. Of research that may not be going on at the university itself. And the course requirements and to not align with the requirements of my department. This individual had a problem in that not only did he have to satisfy the requirements of the training program, but he also had to satisfy the requirements of the department. So that was a little tension in that.

Jail. The strength of the program and the diversity of the science being conducted. This person after completing the degree went to law school and is now working in the area of the intellectual property. And feels that the background that he had in science was very useful for him in dealing with the scientist he had to deal with when it comes to patent issues. The training grant was very useful. I subsequently went to Stanford to do for stock and now assistant perfect server at [ Indiscernible ] University. Allowed me to perform exciting genomic research and gave me the educational background to pursue a career developing cutting-edge genomic technology used around the world. And again this is another program that didn't have any suggestions for improvements.

Princeton ability -- is relatively new. One person said the resources and the constant stream of lectures and colloquium sell them -- seminars. The quality of the faculty and the exceptional mentoring were the things overall strength of the program. Suggestions for improvement. More structurally direct with the students and programs and a little more structure in my academic program. We are moving now towards large scale sequencing data generation. It would be good to beat up some of the infrastructure pipeline. My experience with -- was a positive it's hard to imagine of what could be improved. And more organized a formal event and to encourage interruptions with the other students.

So what I thought I could do to sort of bring this all together is look at what were some of the recurring themes that dealt with strength and approvements. Of restraints it was the multidisciplinary nature of the program. At the off virginity to cross train in another discipline. The opportunity to network with students and postdoctoral faculty. The financial support for tuition, travel and supplies. The opportunity to present the research which sharpened your written and verbal an organizational and analytical skills. The curriculum. The integration of the basic training with exposure to translational research and clinical practice. The quality of the faculty. Learning how to communicate across the computational biology divide. And the rotations which allowed students to select the projects that they would be interested in rather than just going directly into someone's lab and not having the opportunity to see what is available to them. And learning how to manage large data sets. Some of the suggestions for improvement are increased opportunities for students to interact with other students. That seem to have been the route most of these programs. To create more opportunities for oral presentations. To add [ Indiscernible ] topics to the curriculum. To provide more feedback on research progress with a variety of faculty members. To provide more instructions on how to manage and leverage big data sets. To require all students to take bio informatics course to lay a common foundation for it to provide opportunities to react -- interactive industry and align training programs was requirements with departmental course requirements so students should not take essentially duplicate courses. And provide students with an opportunity to write grant applications.

So one of the other charges from the small group was to look at what else NIH is doing in these areas and also to look at what training is going on in the clinical and translational science awards. So for this particular exercise the director and IH has a set of working groups that are looking at the NIH workforce. And they had compiled a group a lot of information about the training that is ongoing at NIH. So that document includes all areas within NIH that we have interest in training. But what I did was to pull out those that are relevant to this discussion which includes informatics, bio informatics, biostatistics, competition will biology, and molecular medicine. In terms of informatics, most of this is supported by an O M. and cancer. The words are interesting because they are [ Indiscernible ] and we look at T. 15th as being awards for courses but because an island is not displayed in the national research program this is used basically as a training program and most of these awards like $900,000 each. So you can see here that they are an investment in informatics is almost $12 million. Cancer and nursing each have an EB. There are three of them. And they have about one half million dollars invested in that. With the bio informatics, there is one environmental health and one and HG and six in GM. That is. That is close to the level of $3 million. Biostatistics there are a total of 33 awards at $8.4 million. Competition will biology a total number of awards at 25 or 4.97. And then what I call molecular medicine there are five and the investment areas $1.2 million.

So there are other institutes of that are doing research in these gap areas. It doesn't value how many trainees there are but a lease to see the investment is somewhere around 20,000 -- $20 million or something like that.

And looking at the clinical programs out of the old NCR our, there are 2010 annual report lists all of their scholars and trainees in the various areas. And as I caused through this list I didn't see anything that really popped out as being having a focus in the gap areas. So further down here you can see statistics, research, methods in informatics and thereby trainees in that area. So I don't think we can look to that group as being a place where it is the focal point for training in the gap areas. So I think right now we will stop and ask if there any questions about what I've discussed so far.

So thanks for putting this all together. In your earlier slides before you started going through all of the charts, and [ Indiscernible ] and teleconferences and e-mail discussions, the lifting of gap areas which I think are important but then I think what's missing -- it shows up in what we see in the training programs. But I think it's key to include also that is not just gap areas and disciplines in isolation but there is that and if you go forward a couple more. I still don't see in their evidence that they need to be strong discipline but also in environments that are highly it up with dysentery -- interdisciplinary. When they're working together with a different scientist as well as the clinician or something. And the laboratory training. That whole interdisciplinary part didn't get put in here. So much.

So this is what came out of the discussions. Is this what you are saying does not include that?

Yes. That one and the fiber you had [ Indiscernible ] but tying it all together to produce these interdisciplinary scientist better able to work together with these different disciplines including clinicians. And it's something I had sent an e-mail and allows [ Indiscernible ] science article but it didn't get represented in here. And I do think it's important that it's included. And I see it coming up in some of this training centers and I think -- the things they are doing.

So --

Do you want to include that? The Mac I would put a bullet about it. I don't see represented here.

It's not just a listing of disciplines. That people need to be trained in. But it's a step further and saying that students are trained in certain areas [ Indiscernible ]. But they are also having experience working together in laboratories in environments that are highly interdisciplinary. So they are able to more readily translate their discoveries to application in the [ Indiscernible ] or whatever it may be. So getting that extra step in the training environment and not just something [ Indiscernible ] training in this area.

You are seeing crosstraining so people can talk to each other?

So they are truly trained in a multidisciplinary environment.

And not in isolation. If that includes working with doctors and those keys that are important so they can readily -- it helps in the discovery phase that also important for being able to more readily translate the needs of the discoveries to the application in the clinic.


Is there any attention given to the criteria by which students have selected for these training programs? At this level?

Know, that is done by the program director. But that training grant is a reviewed are going so how he or she plans to selected students or recruit students is also look at. And if you look at a training grant it will always have information about the background of the students, their scores, things like that. How they make their decisions. But that is a decision that is made at the level of the T. 32 program director. My -- maybe Mike --

I think it does vary. Hours has been executive committee that solicits information. To dominate or self nominate. And bring us together applications and go. I think that the typical process. The comment I wanted to make was getting back to Dede's comment. I think all of these programs were the ones I'm aware of and there are quite a few are worn out by -- wasn't aware of have a focus on interdisciplinary training. At the same time we have to be careful. We can't try it to trained super people who do all of these different things. We want people who work in more than a single discipline. If we try to have them turned across all these different topics that we might be interested in they will be and training for the rest of their lives. The key thing is to have these be able to have a core discipline in which they are expert and to be knowledgeable and able to talk to people across other relevant disciplines. But realistically it's probably two or three rather than six or eight.

[ Captioners Transitioning ]

Do you have any comments since you were at Stanford for a while talk

Yes, I am happy to see that grant in the 16th year, yours is a couple years older I think. One moment just -- I chose what I was doing something. From the very beginning it really wasn't the training program, from the beginning these were interdisciplinary we overuse the word, especially as someone about informatics are adamantly biostatistics automatically interdisciplinary because they have to know these two areas that was originally were very different at least those two. In the training program we have people from all sorts of departments I think they still do clearly they are looking, making it even broader it looks like. I will say that what struck me so much about the way this whole training area evolves, since really the early 90s when we were first talking about this, is that every graduate student that comes through that program was are the genetics program and many of the was related to a pent-up because of the courses end up knowing how to handle large data set so the wet biology people would probably never even and about this they really do get training in the and what happens afterwards is that many of them end up becoming a really has made a huge difference for them populating the field many of these are now professors or assistant and associate professors in various places so I have always office program overall is really important I think we want to stick to it and I guess you could always argue how many people we are training we are training to train the best in the still emerging area., I don't think we should worry if we are getting too many genome scientists with interdisciplinary sort of training skills because I think we will need even more.

Just out of curiosity do you have a breakdown of -- given the emphasis on quantitative training, training quantitive skills like I'll informatics statistics do have a breakdown of how may people start these programs? With a strong background in say math and statistics and then learn biology versus the other way around? Say they are biologists and acquire some quantitative skills?

You mean completely switch so that if they are informatics, they are only doing wet lab work?

No. I am just asking, what are their pre-existing background when they come into these programs?

Yes. They all have -- these are graduate we are talking about graduate students, so they all come with a background in genetics or informatics and bio informatics because like Wash U. all the people come in with degrees in math, bio informatics, statistics then they get exposed to biology. So that is probably -- that program along with Penn, is probably the purest before you have informatics, computational types coming in and getting exposed to biology.

So, I am in, what that break down is perhaps buy program and across the whole set of programs? How many start with say a degree in math works versus a degree in biology?

That I don't have.

I will bet you I am sure it varies from one to the other but the Stamford one, which is a very large one as you can see from the numbers come a the whole time it was probably 75% biologist trained who came in and either had a little -- may have had a little quantitative skills that it became much more quantitative and 25% of very little biology, who then became biology as well as bringing in obviously already strong and fully developed in their biostatistics or bio informatics. I think that's -- David you probably know this as well that is something, number something like that because host of them are biologists who come into that and even though it's a great computer science Department statistics etc., that you recruit, we could recruit some of them.

It really does vary by program sort of the [Indiscernible--multiple speakers] two thirds quantitative one third genetics.

I'm just asking if the government allowed to collect those statistics? [Laughter]

Well, I guess the other thing is, if you look at all of the training programs they usually have five, 10, 15 departments that are collaborating and not all of these are just little narrowly focused programs. The pool of students at the drop from actually comes from a much larger group. So, I am sure we could get those numbers but is there --?

Part of the reason I asked at least in my experience, I think dealing with these very large types of data sets and very complex analyses, it is much harder for somebody who doesn't have perhaps the initial training in some kind of state math or statistics discipline to acquire those skills. It is easier to take a mathematician and teach the biology than the other way around. So I'm just wondering, --

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Well, just my two cents worth. But, I am just wondering if basically that is something that you are taking into account, maybe other people don't think you should for the evolution of this program, if in fact you want to train more people in the quantitative aspect.

Betty, I don't know you so do this, there was at least for many years a strong push to get more what you call bio informatics, but in fact I think we even got extra slots a couple years if we got more. So I think that was the direction. I don't mean to disagree so violently but, just having watched a lot of [Cheering] And computer folks who have no background coming to the graduate program to do this, it was quite hard, it was the hybrids, but when it came in from undergraduate who had a little bit or maybe even a lot who did really, really well. But, I think the whole point in the training program to get those two types of groups together at least we sell lots of benefit from that.

I think it is fair to say that all of our training program will have some of those types in there. They won't be all biology types. That we don't have. That is not in HG into some of the we always emphasize injured discipline or -- emphasize interdisciplinary and going to some these comments it was very clear that many of the individual said the opportunity to listen and work with other people had training in the opposite discipline was a very synergistic type of activity for them.

I have a question.

My take on all this, and I was actually in the statistics department for eight years in precisely tried it takes to -- statisticians and tournament interesting problems about unit of the articles of graduate school of statistics and the goals of graduate school and biology are pretty different and even the way they are offended, but they prioritize, even when you assume a search committee we need to succeeding did you been statistics is really different. We would hire people we never publish anything because their advisor said the chapter in the this is is really excellent and that would be a robust as opposed to having multiple authored papers with the receptor third out there. So I actually think we really need to focus on creating the mechanisms by which we can train people who are really interested in developing algorithms and applying them to data even though they may not be solving interesting problems in competition, or in statistics but rather really working on interfacing and that can be done but it has to start exactly by taking people who have had some math and statistics background and then they go into a PhD in genetics and statistics focus on his problems. -- Focus on these problems.

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I had experience in both directions and I somewhat agree with Mark, but maybe at a different level that is if I look at -- I would say differently if I look at people who already have PhD's in biology it can often be a little bit more difficult to move them into the more sophisticated algorithm ground. Actually mathematician I am of course a notable exception, I actually think this is a better than statisticians in competition is going to, applied mathematician century mathematician and that's a relevant. To me the major attribute I have seen, the major phenotype I think in people who go on to be successful competition a biologist are those who become totally obsessed and I think Carlos use of this by solving a biological problem. They are interested in developing new approaches of algorithms in order to address and driving biology will -- biological problem. I think you can generalize or so people with statistic background who are completely captivated by biology and some that aren't. In terms of undergraduates, I see more and more people coming in to the MIT program that have the combination of both. As undergraduates they have joint ventures in math and biology or computer science in biology or physics and biology and they do very, very well. I think there's always a leap when you have to go from a single discipline to the interdisciplinary thinking you have to be really driven by the other side in order to be successful there but I don't think we can sort of make a general statement about it. But, I do think that successful computational biology or I'll informatics PhD programs stress that a successful thesis is one that solves an important biological problem and also makes some advanced on the analytic computational side.

I think the only thing I would add to that is beside from training and developing people who will be pushing the boundary in terms of algorithms or methods of development there is also the whole really, really important issue of training biologists to the quantitative we and be able to analyze large-scale [Indiscernible--multiple speakers]

I agree with you 100%.

I think -- the same way they have to understand chemistry and the way their reactions are working have to understand.

I agree 100% and that can often be done by specifically tailored courses to those people because they may need a different kind of approach.

And it's actually, what I found is that it really -- there's a sort of old guard that you find us as well I never took statistics when I was in graduate school and if you need to do statistics and you did the right experiment either life-support doesn't and they are the ones that tend to be the most reticent of this but I think that is crackling down now as more more students come in and say look at Dennis each experience I had no idea how to analyze the data so what am I supposed to do I always need to have someone to take my data to and I think that's the restoration of people who are training today they feel that they are sort of rolling in between the cracks where they are taking kids, doing experiments and at the end they will have a flood of data they don't know what to do with.

How many of these courses and programs make their material available online? I hear more and more about people not making this available to a broader audience?

I'm not aware of any but we have it require them to do that. It is --.

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The training problem multiple types of things --

Be do you mean?

No the course itself.

Think most of us have a string programs don't create them de novo I think it's taking existing things putting them together in novel ways and encouraging people to do a broader range than they do in so if I were given the requirement of my materials on the web that would be difficult I would do my best but I would have to be talking to the instructors, all the relevant courses not all the members of the training program but the notion of trying to get some relevant information and I think one really useful thing is the sharing of best practices across some of these are example some of the issues identified as being difficult is one another and have the programs talk about what you do to address this issue do you feel good about what you were doing their do you have information if someone else is having difficulty with it would be quite useful.

Raving about -- we think about requiring these programs, and order the key aspects of the training, broadly available if everyone wants access them?

Think the cost would be nontrivial. And I think it would be complete that one could get some of the. For larger training programs for the one at Stanford where it is not entirely but largely built within the genetics program or the genetics program extending maybe there is more centrality there than there is because we are dealing with different department and one or two faculty in this one loss and that one is so obvious.

I wonder almost a part of the issue here isn't that we need to start a little earlier in the pipeline. Experience has been in the PhD students I have had in my over there has been a strong selection in biology for people who are non-quantitative. Use it with the folks in your lab in just a them -- the percentage look at data, numbers and start getting numbers and I could do those in my head and they weren't even thinking that way about the problems so maybe something we need to be thinking about is how to make sure that people that have some quantitative trading and a quantitative approach sort of naturally or through their training as an undergraduate realize there are some really terrific opportunity for the people to bring those skills into biology. I think it's happening but if there was something we could do to deserve encourage people to say if you get really great, if you're quantitatively inclined great training in biology, continue developing your unattended skills you're going to have lots of opportunities.

David Boston course, the whole thing is set up at Princeton is really based on that.

Just my university president had, I think one of the arguments about the values of education as we develop vertical thinking and critical analysis skills that the whole quantitative skills and the amount of information in the data that all graduates for me to deal with in the future is very haphazard. And department offer as of course many don't come in the biology department, for and I think it needs a fundamental rethink in terms of entire curriculum review whether there should be a broad-based like David Botstein has done at Princeton as we do from a liberal arts education what you do and critical thinking [Indiscernible--low volume] but from what I've seen insurance sure at the University is very much dependent on the department and their thoughts and approach. Students of the let her statistics. In other areas but in general those students walked out of University without any skill set and how to deal with large data estimate of information that they will be meeting to deal with their jobs no matter which Avenue issues.

I'll -- very interesting whether people have taken gives you -- test -- physical chemistry as an undergraduate the programs goes goes direction of the demand is built on the structure they will run screaming.

Appointed for my job [Laughter]

I think to make sure we have on the table liquor talk about the biologist mathematician in the competition person, are talking genomics is also a clinician side and our biggest problem is at the biologist who don't know any comes from a person. It comes from a commercial company that sends you to get the blood so I think some of the comments appear I was so nervous take an ethics course they should have been the first one.

Wanna change the direction of the conversation

I have one other question to.

Just want to return to the pipeline issue how many persons from other presented by her background to the trainer with yours and what are we doing to increase the numbers this is where they are grossly underrepresented.

So I have doubts 10% or little bit more of the people: already fill the number of slots of student and have been good citizens in appointing minorities if they find other minorities they can come to us with requests and we will support that person. We are also moving to a point where we have allowed training ground to have extra activities for underrepresented minority parties and these will be moving to an R25 program announcement in the process now. So those are the issues, things we are doing to deal with that issue.

I had asked about them outcomes of that wonder, is there. To something Jill said when we first started doing a lot of this stuff I think we thought we needed to teach quantitative people how to do experiments in with the concur is needed to teach them to learn about what a promoter is or how cells work and my reaction was that learning biology when -- for the first time when you are way past training it's hard to get all that because of the complexity. Is not a boilerplate or single thing and that is where the passion for the problems come from because they understand this is where the questions are they need to know where the data comes from A. I don't think is important -- a lot of them almost all of them wanted to come in and do some genotyping so they could say they have done an experiment and we do that, whether that was that's important in understanding the depth what the biological questions are. So just wanted to say that. The other thing is changing the subject entirely, that he, related which were just talking about, I wanted to hear how you feel the the math, the action plan diversity action plan how does have it going? Be that it helped? Is working well have you had problems with that? Improvements? A lot of effort it.. I think it has helped but like everything else it is going to take a long time to get there but we do know that some of these individuals have gone beyond to go into graduate from another place with some of them have guns in the well but you can't control that but I think by and large that it helpful. P32s

To continue in that there is enough right now for each of the as someone that has really given us the sources to actively work at this, it is still hard but to actively work to really try to make progress. There has to be a constant point of attention and I think it is particularly true in the case of an expert to particular deficit just in general and for particular groups is the we just took a job as a society, encouraging people to study mathematics if we really wanted to talk about the most reissue from my perspective, the all the kids we used in middle schools early on in the world who -- before the think that this woman's totally turned off

Let me shift discussion of the we've been talking more about how we are training and pipeline issues related to interdisciplinary training and so forth. One of the things I was hoping to come out of this discussion was a little bit more emphasis on how many. There is a certain amount of our portfolio, and counsel is getting increasingly familiar with but our portfolio the second is -- to species of increasingly scarce resources that we have X. number of training programs and demographics and training., Graduate students and so forth and I get lobbied all the time for the desire to train more, train more, we have a youth of China different that training more. I guess I was hoping to have a full discussion have one of the things I would like to counsel for do in the coming months years is to give the public the guidance about the right amount of training? We should be doing? We be investing more if we invest more where will the money come from should be the last he says out and use the money for their activities? I have had a difficult time getting a sense of why we have X. number of training programs and one that 50% more for this so I have heard a lot of of people who talk on an ad hoc that would yours any do you think now using the snapshot view of you in terms of training programs and what you're about what is needed or not he said this is a really opposition the NIH and general to be having this NHR a the fifth of.com under the THC that are out there. Sequence featuring a Virginia tried to more of a. The five fingers so that is the question of how many you should check if a figure this one from the other training if you had a fun disintegrate after her for doing that but I think is assumed was a biomedical research is kind of is in age was referring to give us write the matter what we do in reality it will be a small pebble and a large core of training going on the NIH and it became a year-round genomics and what we in the full spectrum of basic the clinical genomics.

My guesses at the end of the day what we are going to use that we need to keep it either around the same or even maybe the shrink a little bit? Is my guesses what will happen? But I think with SS as we all agree there needs to be more people trained with quantitative skills in biology so that means if you need to take some slots away from other areas and put them into quantitative training of biologist that will drive the movement of people into that field.

One thing we could do that should be the only store because I don't think it's is about getting jobs that we could look at people who are I've yours those training or more three years those training are more or something like that and ask how many of these people have jobs that we are happy with. And we have to make a decision with that corresponds to. But how many people are doing genomics and away the required a PhD or required postdoc in the kind of training that we provided and if it's 90% of the might disagree think we need to stay the same or get a little bigger but such a percent I agree with need to make a little smaller. But that kind of data could actually be useful and I start out with the market assessment earlier but where these storefront. What did they get you in a training and what is their employment experience after that in terms of outcomes that we would view as successes for our training?

So were looking at the portfolio. I was struck by the high quality goes there. But, it's incredibly narrow and focused. If you go outside statistics. Bio informatics and maybe have standard deviation beyond that, there is really not much representation in all. And especially in genomics no one else is picking up that piece and we talked about on the phone we don't have a lot of people with expertise in genomics and the clinical disciplines outside of medical genetics

Reporter: With same and the problem is there is no place for them train and I think a P32 in the areas that necessarily the right answer. I think most of the time we don't want them to be -- we want them to learn beyond the point where they are dangerous. So to the point where they are just not dangerous and often that means knowing they need to collaborate. Knowing they need to work with others but getting a PhD, you're almost repurchasing as opposed to our many we need to be more creative about the train progress we have driving skills to someone who are he has a day job as opposed to repurchasing someone's a shop.

I think you also need to think about the international competitiveness of the space test you have the bio economy report say we are in trouble and the sequencing is happening in China the analysis is happening in China I would expect they are increasing the programs that I think in thinking about the problem we need to see what other countries are doing in terms of training or individuals in this area.

I don't know if I want to overblow genomics but going back I like what Mike said let's get the data and we can figure this out but I think I brought it up your Air Canada put the report to muster the talked about the economic impact on the Human Genome Project and that's an opportunity to huge 141 or something if one 71, but it's huge.

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The point is a because the field has been so revolutionary, not that we want to turn every biologist in charge know Mr. bio informatics, given that any of the report issued today with potential job, potential markets for these not to mention that we haven't really started applying is clinically I think we need to be careful about being too austere about holding -- we need four more of these people. I think the hybrid I just want to reemphasize the hybrid people who come out at if they know this is exciting and important you will get people, more merchants coming up or they will actually learn both adding MSH ready to graduate school it's not painful for them.

Continuing on that line in your comments and we are always difficult budgetary times and I think Rex is getting about how many people are going to have jobs and are we overtraining. What we are talking about is training people will be looking for grants another five or seven years, and I am hopeful that the situation we are in now will be a meteor that we will be writing up -- a nadir, rising that from that come with each of the potential genomics has a concern that people were mentioning about the report about losing leadership and genomics to medical research -- if there is anyway to move in a positive way to increase the training funds we should.

Can I add one really quick -- it's much broader than even that because engineering and different technologies also we are in a situation when a able to train and a student for what the jobs America has announced if you think about engineers and this is and so on and then doing developing new genome technology that's another whole part of this as well.

Is responding to the issue about how much we should be training I look at what we were doing about a couple your scope and I don't think the picture has changed since then. We had about 2% of their extramural funds in training average and H. was spending about 3.3% in trading. So innocent we are on the lower edge of what other institutes of doing in terms of training so that is something to think about. But I think it's difficult to make decisions in a forum like this and I'm wondering -- do you have --?

Several of the server same by comparison is surprising to us and maybe we have heard this before and it just forgotten but if it were my bias coming into this is that opportunities in genomics are stronger than most of the disciplines across NIH and so I would have thought that genome might be higher but the economy of scale issue of. [Indiscernible--multiple speakers]

I don't know but[Indiscernible--multiple speakers]

PKG amount of the what is the average voter their institutions?

I think I did a look at the other institutes develop see if I can get that figure. What we really need to do is perhaps once again have a committee, a small committee that might help us shape this because I think one of the concerns is most of the discussion has been focused on training on the left-hand side of the density plot and they think that that we are going to move all the way to the right-hand side but I think we need to perhaps broaden the skill sets of the people training in genomics, protomics, genomic medicine we need to think seersucker how to do that. So I think maybe, Eric, we could get together and invite people to be part of a small working group. Another area we haven't touched upon is how would we like to handle training and career development in which the pair met is getting even steeper and do we need to train people in those areas especially if you're looking for individuals trained in clinical sciences to do you genomics, per your looks research so I think this is just the opening discussion we will be back sometime soon to review the dishes again.

Then I guess in closing, what I think we are trying to get at it is I personally don't feel we have a strategic, renewed strategic vision for what we want to do in training I think the sort of the unsuccessful set of programs the settings are changing, the landscape is changing and the budgetary constraints are real and we are approached by people who want to know should we bring you good ideas and I think at the moment we are a little upset up. With respect to making a statement about what we see strategically our role should be in training, the scale of training opportunities and so forth. Up with a call on some of you to continue and actually Tony I don't think you were involved in the working group but maybe we can get you I think the perspective he would bring from the University leadership perspective would be very helpful it as an example maybe others as well we already participating but yours of useless I think we will continue this discussion again I think for an institute that have reasonably strong views of strategic -- what we should be doing I think we can update hours in this arena.. Okay. So, we are going to take a break now, Mark?

Everybody is due for a break why don't we reconvene promptly asked 3:30 -- promptly at 3:30 through our presentations and I don't think it'll be too lengthy and more discussion so let's reconvene adds -- at 3:30.

MEETING ON BREAK [The event is on a 20 minute recess. The session will reconvene 3:30 EDT. Captioner is standing by.]

Why don't we go ahead and start with the project update on 1000 Genomes now by Lisa Brooks.

Thank you. At in about a year or so since we had an update on this project. We just had a project meeting at Cold Spring Harbor. I think most of you have singles before that we are trying to wind a sickly mouse variant in population is being studied both SNPs , structural very end -- variants but the first goal has been reached and this is from 26 populations 2500 and related samples plus a lot of kids. We are quite happy about that. It worked out. There are three phases for the project, I will be talking about those in order, the first phase, the data was released, the last. Data released in March, the paper is being written up and should be submitted in early June. This is a start 109 a start 109.2 samples important revelations with both whole genome covered sequencing excellent coverage, genotype data, and the phase 1 results where we found were becomes -- see cloned in there is 38 million SNPs 2 million indels 2,014,000 deletions most her novel the common variants workout for the degree look in additional populations you find more rare or variants so that is why they become more novel. These are high-quality, would is a real advance in the data set is that the different types of variants the people who want to [Indiscernible] GWAS studies they use 1000 Genomes studies data but they will get not just SNPs but indels and completions as well. There is lots of new tools being developed, the data on the Amazon Web services cloud, this was the poster child were Big Data for NAH. But we will take any cloud, this is not an inclusive arrangement but it is in a way the data set clearly the variants are much larger, larger data sets people wanted about methods or in the global analyses that need BAM files the underlying sequence reads that's 200 pair bases extremely large data set. One of the major results so phase 1 [Indiscernible] computing if you have even though you do it just typing and GWAS use the data to into the variance he didn't say that the most likely are there. Amputation from the complete data set almost 700 people is better than imputation just from the population related to the ones variants the because of there is enough sharing a across population that imputation is still useful here is an example, the same for -- very similar for coding variances versus non-coding variants whichever big box from left to right, frequently classes, very rare variants , somewhat rare, not to rare and common variants . The dark part are only thing that population median or one thing shared to population on the same continent, the light part is shared among continent and you can see, and variants found in all populations. All continents. This is a reflection of our shared history coming out of Africa and spreading all over the world. So, the comment variants -- even very rare variants can still be found shared across all populations. A clearly, the very rare variants are more population specific.

Those arose after people spread around the world so they arose in various, specific places. And allele sharing by frequency, that is showing you a few of the results and the paper. So showing you some of the results from the paper, not all of them just sort of him interesting highlights again this is allele sharing, that variants found in British, except for very rare ones which clearly our recent population history but variants found a British are likely to be present in [Indiscernible] with the bird reverses and true variance in a Louis a far less likely to be found in British so again it's a reflection of population history, people left Africa and there is a lot of genetic drift and founder effect and didn't take all the variation within.

Here's an example from Carlos, add mixture, we have the Puerto Rican, Colombian, Mexican and amount of European it and trust -- as it should come African and Istria Native American ancestry. Each of these populations many populations are admixed we are getting some very nice ancestry deconvolution, there are also methods to go across the genome for individuals and assign them to ancestry. A loss of function variants a lot of interest in and I should say of course these are loss of function looking at variants inviting friends and the stock code on pretty early on the assumption is approaching product is not made that not[Indiscernible--low volume] be no take it as a classic do much for likely to actually be nonfunctional even though you don't really know that about specific one except maybe the second codon or something. And so thousands of nonsense like disrupting frameshift, large loss of function variants. Of course what has been discovered in the sessions that are homozygous, they are crucially important genes as olfactory receptors where he turns out it doesn't really matter if you -- if a person has a sense of smell a little bit different from another person, that is not legal. Of course, -- lethal the one that everybody especially I never get it to have them as I go to really are that bad for a. So we talk about lots of function variants we need to recognize is that a real selective filter.

Phase 2, we are not going to make a paper out of this. The sequence data has been done already, it is almost 1700 samples from 19 populations doing the calling of variants the project really want to focus on developing the method for mapping and calling variants said there is a lot even though this is a lot better than the pilot was, the project has been very active analysis groups really developing methods of analysis. And the keyboard are calling we will do a simple straightforward calling approach and actually spend the time improving methods. Of course this is a project to methods are used in many other projects so it is a very worthwhile investment. Phase 3 is the final phase, all the remaining samples will be 2500 and related samples, this concludes 500 samples that are being sequenced by complete genomics including 161 trios I'm a which means kids of those unrelated appearance so there will be 2661 samples eventually, the sequencing is planned to be done by December of 2012 calling variants by the spring of 2013 and preparing an integrated paper that summer. So that is the end of 1000 Genomes of course, people are thinking about what other resources are needed one and Wash U has been a proponent working with the genome reference consortium because when you talk about reference because there certainly are air as and when you have 2500 sequences some of which have been done very deeply, you have a lot of information to correct problems with the reference so you can find more sequence and if there is little bit the sequence that haven't been found that can cause errors in variance calling so we are finding more sequence is useful, I believe this about 35 mega basis have been found so far. Six errors per vial our tentative assemblies, provide entire haplotyes rather than chimeric wants. There's other resources which you need help to the city's. Any questions on the project? Okay.

That was a fantastic project. So important to what we are doing. Really, really pleased with the the the 1000 Genomes became 2500 or 5000 depending on your point of view. And it is just so useful in so many different ways congratulations on a great project.

You may have seen the total number of loss of function patients those were fairly severe.

They are what?. Fairly severe loss of function mutations are making guesses based on --

Absolutely. [Indiscernible--multiple speakers]

Easy to predict, frame just. Where the MNPs has there been analysis done on those likely to be loss of function based on evolutionary constraint and --? [Indiscernible--multiple speakers]

The functional interpretation group has actually been quite active there is a lot of overlap with the ENCODE peoples of there's been a lot of trying to understand some of the functional consequences and there is amount is about which types of genes, gene function are more or less variable or disrupted by these sorts of variant so there had been a lot of looking at various sorts of functional ways of doing things.

I want to throw something in I think that one of the directions that NHGRI, this is a little off base but maybe not, but large scale effort to test those functions there's one thing for some identify variants, another thing to maybe even know that they are in a promoter or enhancer or in coding region, but it's another thing to take those into something a little sampling as to whether that actually is changing the function knockouts obviously now that we have weren't such a big whether big effort on something like [Indiscernible] I hope we can talk about that when it.

Which I talked about that a bit of people have discussed actually the point that we need to do validation work on the production.

Idea what is the word of because of its more important to this validation it's really the way want to do I not sure we know how to do it..

You alluded to do have an actual number of how many and this is used the how much is I got the these present flocks?

The Daniel MacArthur paper found about 100-ish loss of function variants per-person but I think 20 to 30 those were homozygous and there was way over representation like olfactory receptors.

In addition to the thing was were there any sell lines established?. Absolutely all of the samples have cell lines amicus that people agree to have the samples used for things like expression analysis, not unfortunately ideas. So sell lines are available for all in Coryell. And there is more kids than actually being studied in thousand genomes Project the people who want to look at Perry ability of cellular, molecular phenotypes can do that.

Just to -- again congratulate you on a great presentation and obvious as part of 1000 Genomes one of the things that have been brought up at the last meeting and on everyone's mind is what is next, what is the next big plan they should have an adult we have a meeting coming up or something where these issues are going to be discussed the condition be something that we should think about or get perhaps a group of -- on counsel really integrate the things we're seeing can't the questions that we have about how we are going to really create the public resources to go from biology genomes to clinical interpretation and I think 1000 Genomes and the efforts invested in so far, need to be hot about in terms of long-term how to make that happen. It is just more of a comment than really anything else. It will be great to get folks around the table about their thoughts of what should be the future of these kinds of big efforts. In part because they are the only kind of publicly available, large-scale data set that everybody has access to. It just gets downloaded so much more than anything in dbGaP recessive because it is open and it really is what catalyzes science outside of even the consortium and I think it would be a real mistake to not continue to invest in this area.

Any comments about the particular about the idea? One thing I will say, everything moves very quickly here. So if all of a sudden attention is not paid to him things start to dissipate people move onto other things he will dismantle consortia and interactions maybe the findings will go on other things and that will be important that you want to take stock. And make sure before does not owing start. Is opposite the issue where those funds would come from and what better for Noster teacher, naturally things will dispersed.

Of the rest of stating the obvious surely there are human populations that have not been sampled from this and I think one of the issues is what do we see that could be gained from looking at additional populations versus across? And I think it needs discussion.

I think in addition to the additional population, I really am intrigued by the connections between the variant information and functional effects of those variants, which would be more studies on the samples in which there has now been a big genomic investment to try to see that is a very intriguing list and make it even larger list if you include the non-coding regions and different types of structural variants. To follow-up one-time on the sell line and also consent -- consent issues, it is blood go live and consensus for anything you can do with the blood selling?

Almost. There consented for variations in good thing, consented for things like printing RNA and protein expression sorts of things. We didn't come over we were developing this in 2001 to 2004 we didn't ink of IPS for some reason so they are not consented for that.

And that would be excluded --? You cannot make IPS out of established sell lines from the 1000 Genomes patients?

We talked about that and decided not, we could -- it doesn't look good.

I think the other issue with their our additional ovulation sampled at that point the consensus will be changed to allow that perhaps to happen if that is one of the things that sort of community believes would be really beneficial for example.

[Indiscernible--low volume]

I am a little not sure why this is such an interesting set up variance -- of variants in the heterozygous forum you will have loss of function variants so there is no association with disease because you don't know that about the 1000 -- several thousand people so I am not sure where you want to credit that's a lot of genes that are redundant in the genome function which seems to me it you really want to understand interesting genes that have loss of function perhaps you do into these populations not in random population because most of these are not interesting.

Before we go, December they want to argue that point? It's a fundamental point so I think it's worth escutcheon before we move on to Pearl.

[Indiscernible--low volume]

When we think about the set up variants that the polymorphisms by 1000 Genomes many of the things now associated are part of those catalogs so we can begin to get an understanding of the functional care transition both in terms of expression and impact on protein structure they may will be the variants that will then lead us down the road to linking with disease particularly -- no question all the variants in the genome is important that you understand their importance by looking at the association with disease. What I don't understand is why people are saying we need not to focus on these loss of function variants because to me they are the most is introducing set in the genome unless they're associated with disease.

Of course 1000 Genomes samples come from people who are well enough to sign a consent form., Just like everybody else they are going to get all sorts of diseases. So, part of the whole point of 1000 Genomes is there is a two-step process that we are finding not complete and especially for very rare variants, it very much definitely do we are fighting a whole bunch of variants I'm a that are actually out there in people in the population, by some of the analyses of functions show they are really quite where -- Representative. So there is selection against them so a classes selection against them proves genotypic effects of there is a two-stage process of using 1000 Genomes to find a whole bunch of variants and just like any GWASS study using the thousand genome data in some sort of disease study helps you figure out what is going on.

One could argue having for example a collection of these 2500 cell-lines an interesting polymorphism, my thinking is P2D genes project might have an interesting polymorphism you can now order of cell-lines and functional experiments that could not be done necessarily from the patient samples that were collected.

Yes if you want to understand the loss of function, you wouldn't go back to the cell-lines we just -- you could do a knockdown experiment. I don't understand. I completely understand the value of variants in amino acid or other regulatory sequences and their association with disease I just question the value of putting a lot of effort into understanding the functioning of genes that have loss of function coming out of this experiment?

I guess the one point I would make your point is well taken that you restrict the number of whole organism genotypes that you can tie to variants swings when there in the heterozygous state. A huge number of variants in the data set are [Indiscernible] many which will act. And could create genotypes that can be studied in SNPs now the whole organism phenotype that the biology of how gene regulation works, there is huge numbers of elements that have been identified on the ENCODE project for example that have been mapped to some rough [Indiscernible] it would be very interesting to know how sequence variants that map in those regions impact the sorts of gene expression and mod labeled phenotypes that you can score in SNP and cell-lines and the biology of deregulation issue, but it is uniquely addressable by this kind of data.

Yes. Many of you heard me say this before I think I agree with you this is one of the compelling reasons why as we think about selecting genomes to be sequenced the future you should pick one better well be no type is possible I would argue things like emerge and page and some of the places where we ask a pretty robust deep Electronic Health Record information find that at least provides a lot of additional information that can be used to help us piece some of that apart.

I couldn't agree with you more than we need a sequence of 12 Innotech samples and there is honestly critically important I'm a component of our sequencing needs to go I think what is really unique and important about about these public resources and community resources that anybody can get access to them you don't have to be an emergent us together and don't need to really be in lockdown mode where the the data resides report for example part of the big NHLBI PSP project and we were investigators in ESP, task and population genetics in ASP where everybody was in agreement that we were going to collect X. some safety data on 7000 people and put it in dbGaP's we can all share it took us a year to have to get consent in place to show the data within the consortium. Whereas for 1000 Genomes, the data is immediately apparent and available and given of whether the individual does or doesn't have diabetes would allow you to free the samples so folks could use it knowing there is some holly markets them in the 20% figure seething to diabetes he did study in the cell-lines makes it a really kind of compelling resource.

I think we should be exploring ways whether you can have your cake and eat it too for example we developed a streamlined data used agreement I think in emerge and we are testing and we've got new pediatric sites coming on and we brought onto the site this year we will see how well that data use agreement transfers. Everybody thinks is to figure out how you can [Indiscernible] reset the data because that is keep.

We should have a meeting on that.

So -- the 1000 Genomes is a great project and I just wanted to come at the risk of sounding really unimaginative am I just wanted to emphasize the point that simply expanding it is important. There is real value in the brute force and I am using air quotes there, population-based type of sampling that this does. And I agree phenotype thing is really important but there is value to be gained from large scale sequencing like this but we are going to need much bigger numbers. 1000 or a few thousand genomes is still really pretty small if you are going to try to infer or come to statistical conclusions about burden, mutational burden, tolerated by different genes etc. from again, those are the kinds of things I think about it simply scaling this up. So --.

SNP less,? So, in your point, Jim, if you think about for example some of the most exciting things that come out of 1000 Genomes have been where investigators have taken the cell-lines , gathered expression data and try to find, make these maps and because of mutations, those are single investigators they can do 80 lines, maybe 100 lines, those are woefully underpowered experiment. So imagine if we could take all 1000 of these lines already characterized and really systematically, so that we can do for a Q2 yellow 1000 Genomes has done for sequencing, just the power of that resource that then enables an investigator to find finishing Association already go into the system or catalog, it's an issue that needs to be transformed cell-lines and .but it is less systematic resource that is available for all of these and can be really catalytic.

Okay. [Indiscernible--multiple speakers]

The discussion.

One final point, finally the analysis methods are including the X-chromosome.

We will move now to Bettie Graham is going to discuss the new NIH policy that Council will have to deal with on applicants with more than $1.5 million in grant support.

So the president's budget for FY13 has language in it that says NIH will establish a process for additional scrutiny and review by advisory Council of the word for any principal investigator with existing grants up $1.5 million, total cost. In addition, we would also want to ensure that the highest level of scientific quality and innovation is achieved and that we can maximize NHGRI investment is ways to be responsive to the strategic plan. So, what does this mean in terms of special counsel review? There are two sets of applications that will be considered for this review. One is the computing research project grant and of those are listed, there are a lot of activity codes in the RPG line, other ones we used most commonly are R00 which is the second part of the K99. The R01s small grants R03s R21,R15s are area arose -- words to institutions that don't have a lot of funding the project -- or Graham project rants and DP1s and DP2s which are common fund initiatives to support innovative research. Also included are at the competitive revisions which are the supplement, the competitive supplement. So, what contributes to the partial? The funds that are committed to the RPG awarded to all institutes of an application comes to NHGRI and the individual has support from the Cancer Institute or NIGMS, that will be included as part of their one point live million dollars bucket. Also included will be funds that are attached to an investigator who has a PO1 or multi-component or multi- PIapplication so if there are three or four people part of a PO1 more multi-component or multiple PI, those funds will be included in that as well. What happens is that the funds are divided equally, no matter how it is cut at the lab. It is divided equally by the number of PIs for convenience sake.

[Captioners Transitioning]Meet the threshold. So that means they are going to be looking at if you have a PO one and multiple component if all of the PI's -- the program directors and I grant have a total award that is exceeding 1.5 million then they will be included. That is included. Again we talked about we will be looking at funds from GRI as well as any Institute that particular applicant has funds from per --. If an Institute has designated application that is pending an award that will also be included in the 1.5 million annual cost.

What will be excluded? Applications in response to response for applications. Wore PI's or multiple PI's or multiple components in which at least one of the principal investigators do not meet the threshold. So if you have a multiple component grant in which one of the PIs has less than 1.5 million, then that grows back grant out of the pot. And also diverse city and reentry supplements will not be included. The reentry grant supplement is a supplement to a pair a grant in which it aired -- individual who has been out of the research workforce for several years and now they have decided to come back and get retraining.

Hello -- right now this is all NIH wide . as a notice that was recently published on Friday in the NIH guide that gives additional information about this. But up until now this is all NIH wide. The center is and the institutes, their counsel has flexibility in weighing what factors should be considered when we are looking at an application that hit that threshold. So -- that this is a mixture of NIH specific and NIH GRI specific examples. So some of these include if an application is responsible to a specific Institute initiatives such as an RSA or whether something is specific to the strategic plan. Whether it is to continue a highly productive project. For instance if you have had a type II which is a competing continuation, and that applicant has been highly productive, if they hit the threshold, then you need to consider what harm would be done if you decide not to fund it. Applications that are highly innovative and will advance the field significantly. Applications that address a field of research requiring greater attention. By that we mean you have some types of projects that are more expensive than others. For example, other institutes have clinical research studies that are very expensive. For NHGRI we may have the technology development applications that may be expensive. That would be something to consider.

It -- if you didn't funded this, would the severely inhibit collaboration. If someone is applying new or existing concepts and methods of technologies in ways of analyzing data that result in significant advances. That would be another reason to fund. To have a high indirect cost. We do know that institutions very with their indirect cost and whereas that should not be an automatic reason to not consider that, it is relevant to your discussion and you can decide whether you want to include that were not because after all we are talking about 1.5 million total cost. And then sometimes applications will have a very high first-year costs because they are requesting very specific unique equipment that is a one-time only cost. And I put other there because there may be other issues were areas in which it would be important to override the 1.5 million to override the $1.5 million request. What is important here is that this is not meant to say you cannot find an application. It simply means that when an application hits this threshold, you are required to at least examine it in a more thorough and intense way and if you determine that this person has more than $1.5 million and this is a good investment, then that is okay, too.

Council, guess. I beg your pardon?

Any other group to the scrutiny or is it just counsel and a recommendation made? Do not just counsel.

The process we're going to uses the same one we use for special initiatives. The staff analysis. So when an application hits the threshold staff at will generate a staff analysis and then you will have the option of reviewing that and either agreeing or not agreeing with staff.

So study sections of special recruits -- groups are not to see this issue? Do not know. Recommendations for funding are at this level.

So in principle this could make no difference or in principle it could make a difference and it would depend on councils of reading of the relevance of the work.


But it is not a rubber stamp for what staff is recommending as it ever is with this counsel. And it shouldn't be. So the way this will work is that NIH has now has a program that will generate a list of eligible applications willing -- going to every counsel. Grants management staff along with the program director will look at that list to make sure that everything looks appropriate. There may be some decisions they will have to make for instance if someone has an award that and in a month or two, and they've hit that threshold, the decision may be to not include that in the 1.5 million because if that drops out and they are below the 1.5 million than a month from now that would inhibit their research. So there will be some decisions made very lightly about what should and should not be included but we won't override the basic principles. After that, we will then put these applications in the electronic Council book and we will only put in applications that we are considering funding. So if we have five at locations and say three of them have scores of 45, and they hit the 1.5 threshold, there would be no need to discuss these because we don't plan to pay them. However, many times at the end of the year we will go back and pick up applications that we haven't thought about funding before but if we pick up an application that hit that threshold we can't funded until we come back and bring it to you for review. So we will treat this like we treat all applications dealing with exceptions. There will be a staff analysis, counsel will have an opportunity to discuss and give recommendations, and then after that happens, we will then notify the institution and the PI if their application was in a fundable range and because the special counsel review it was decided not to fund it that information will be conveyed to the institution and the principal investigator.

I think that's all I have to convey and if you have any questions between Mark and Cheryl and Monica, we should be able to answer them for you as best we can.

To have any idea what percentage of grants are going to need to be looked at this way? Or what number?

The percentage of small. Throughout NIH it was like 2500.

Is going to be very small, somewhere between two and three applications per ton. We don't have that many. Because remember we are looking at the one types.

Got it.

And Justin -- yes?

I missing the point. If somebody has a big center grant and they got an R01 suppose they have a center grant, and it doesn't count.

No. That's excluded.

The other thing that reduces the numbers a lot is everybody animal to component grant has to raise the alarm bell and if anybody on the grant doesn't that grant is excluded from exhibit -- consideration.

That's correct. Any RSA that comes to counsel is not included in the review. However, if that person then say another round comes in with just a regular our -- our 01 that will undergo special counsel review.

So realistic the scenario you maybe could envision is if someone is really good at writing our 01 and doesn't do the work this will be away to fight that and avoid funding. In just about any other circumstance because of a right of a lot of our 01 and they didn't do the work you're not going to get rid of them and if it's and other mechanism besides our 01 you're not likely to be getting up to 1,000,000 1/2.

That we are looking at innovation and things that are going to push the field forward.

May be a Mark to stance my question but as I was looking -- listening to several reasons which would be considered as adequate justification for going ahead and paying it, it sounded like traits we look for in all grants, highly productive and innovative. If you have collaborators and you don't do it they will alert the collaboration. I was -- I wanted to ask what is a scenario for you with not paying? The grant has gone through and their study sections had given them good enough scores and they are making to pay lines. On what basis would we turn one down?

I can't say exactly but I think one reason would be say we have a portfolio of grants in which similar research is being done and this is a very good application but it doesn't move us significantly beyond what is already being funded. So I think that would be a week reason for not funding.

Any other questions or comments?

The answer to your question is we are not really looking not to fund a somebody on the basis of what we just have to do it.

I did get the message that it has to be done. And I appreciate that.

The other part to this is that after every counsel round NIH will be make in a report to OMD about how well we are doing and monitoring this.

Okay. Thank you Debbie. We will move onto our last presentation. Which is from [ Indiscernible ] an update on the X. chromosome program notice.

This is an update on a consequence we have brought to counsel in May of 2011 that we have received recommendation from a counsel to put out as a notice instead and follow the field and see how it progressed. As you may remember, there've results from the catalogue have now found over 1500 genome mod associations at a level of P. 10 to the -8 for over 200 traits. However even now there is still only about eight hits that have been found on the X. chromosome which is one more than there were a year ago. And last year we brought [ Indiscernible ] for the full chip which propose to support a broader utilization of genome I'd associations Ida looking primarily at the X. chromosome as well as of the Y-chromosome and the mitochondrial G&A and CD analysis. The goal of this was to look at this underutilized data and facilitate a more conference of analysis of the data in genome I'd go studies to validate new methods for analyzing this data. And put forward new analytical strategies in statistical methods that would be widely available to the community. There were a number of recommendations that were made at counsel a year ago. The first one was to go forward with publishing a notice rather than putting out an RSA for this initiative and to try and encourage applications to come in through the unsolicited mechanisms so our 01 at our 23 and our 00 applications. To present the fighting and meetings to get the word out and write a paper on the findings we have and publish in a prominent journal. To return to counsel in about a year in percent what we found which is what we are doing now. And to remove the CMB part of this. There's a feeling from Council that the MPs were more dance in some of these other datatypes from the X. chromosome and the Y-chromosome and the mitochondrial G&A. We have issued a notice. We did remove the CMB part from the concept this is basically the idea that was brought forward in the concept Clarence that put into this notice. And then go to the same to facilitate this type of analysis in these underutilized data types. So we are hoping for individuals to put forward applications that would analyze existing data for the Y-chromosome X. chromosome and mitochondrial variants to focus on data sets that have not previously been analyzed as well as to develop new methodologies and disseminate this to the field in general.

We hope this would include diverse population. So far we've gotten our first pass the -- batch of applications that are gone through pure review and hoping to get a couple of them that will come out and be funded.

We put forward a number of presentations over the past year. We presented at the genomic disease meeting as well as HTB and the American society of human genetics meeting . presented this internally at the Directors forum quarterly meeting. And we have working on an commentary discussion with the journal currently we're hoping will be published soon. To give you an update on the numbers of this is the data we presented a year ago to counsel looking at the percentage of genome wide association papers in the G. why catalogue that analyze the X. chromosome. And we've now completed a number of months worth of analysis and as you could see the trend is approximately the same with about 33% of the papers looking at the X. chromosome. It looks like this isn't something that has really changed over time even in the following year we still have only eight hits in the catalog that are showing up as significant. Meaning GYD catalog standards and this is an area that really does still need a stimulus to be able to bring forward new methodologies that are accepted by the community and hope to be funding some grants in this area soon.

Any questions?

I think the noisiest one against this a year ago I guess I was wrong. Things are bringing the data.

-- Thanks for bringing the data.


Okay. Thank you.

So we are at the end of the program items. For a concession. Now -- I lead a discussion Council initiated discussion. Is there anything that counsel would like to talk about in the open session before we deal with other things and eventually go into closed session? Or new business items? Anything?

This is also the opportunity to suggest to us topics that you would like to have presented in open session in future. As a reminder in September there will be the presentation about the intramural research program from Dan Kastner and the panel's report. If there are other items that you would like -- issues you would like us to discuss this is the time to suggest them.

We have other things on the list for the fall but if you have things we will add it.


The next item is the announcements and items of interest. And the only ones to call your attention is listed on the open session agenda with a link to the PDF for the quarterly report from the American College of medical genetics. And a genomics. And that brings us to the end of the open session. And lest anybody has any other item they wish to bring up.

I do the conflict of interest now. You would be surprised but I have not memorized that purpose

[ Laughter ]. I have asked them to bring it but I haven't gotten it yet. I looked on the web to see if there was -- there is a statement that is used by the NIAID. I will read that. Just as a variety. That says the same thing. The following excerpts from the NIH procedures at for avoiding conflict of interest to revise recovery the members manuals a should be called to the Temple of council members for the policy special government employees serving as members of the advisory committees must avoid real or apparent topics of interest. Responsible staff shall ensure the procedures used to avoid conflicts of interest are followed including a committee member leaving the room during reviews or applications or projects which to the members knowledge any of the following has a financial interest. The member or his or her spouse, minor child, general partner, organization which the member serves as an officer, director, trustee, general it -- partner or employee, were organization which the member is seeking employment. To document that a member does not participate in the discussion or vote on an application in which there is a potential conflict, as described above, a statement to that effect is provided for the minutes and the statement becomes a part of the meeting file. And we will ask you at this point to sign the statement that you understand that. Council meetings when applications are reviewed in groups without discussion or identification of institutions i.e. unblock actions, all council members may be present and may participate. The vote of an individual member in such instances does not apply to applications from any institutions in which the member might be in conflict. A member who is employed by one campus of the state multicampus institution may participate in the review an application from another campus of the institution if the member does not prove a position with multicampus responsibilities. A member who is employed by a private institution may participate in the review of an application from an affiliate of the private institution if the member does not hold a joint appointment with that affiliate. The member does not have affiliate wide responsibilities and the member has a conflict of interest allowing the member to participate. Members are reminded that all materials furnished for review purposes and discussions held during closed session -- closed portions of the meetings are considered privileged information. The contents of this document and the outcome of those discussions during closed sessions may be disclosed only by staff and only under appropriate circumstances. All communications from investigators to council members regarding actions on applications must be referred to the executive Secretary. of the Council. Attempts by members of to address questions from applicants are not within established procedures and are inappropriate. That's what the NIAID says.

Is so you are collecting their statements. And that's it.

I think we will call the closed session. Open position to an end and ask anybody here who is here for the open session to please leave and we will reconvene in about one or two minutes into closed session.

They are different when you sign before the closed session.

[ Event Concluded ]