 Okay, so in this last session, we're going to talk about increasing diversity among patient populations and care systems. And I'd like to introduce the members of this panel, panel six, and if you guys would raise your hand. So we have Cynthia Powell, Vince Bonham, and Craig Hannes, in addition to myself. So I'm going to present the slide deck, but the slide deck was a cooperative effort among all panel members. And so I'm going to walk through some of the main concepts represented in the slide deck, but then I'm going to ask for the panel members actually to weigh in and perhaps elaborate on some of the principles that are illustrated here. So when I first thought about this concept, I really was focusing on the patient population so how to get patient more diversity in, say, clinical trials, and that was my focus. But as soon as I submitted the draft slide deck around, it was clear that in the end of the day, the top of the diversity and the importance of diversity is not just in the patients that are accrued to clinical trials, it's diversity throughout the entire spectrum of healthcare and healthcare research. And so this ends up being kind of a comprehensive discussion represented in the slide deck. And I think, you know, when it comes to genomic medicine, to me there are two main issues that really are at the heart of what we're going to talk about. One is that if we really want to get a handle on all of the diversity or all the relevant diversity in the human population, diversity of the patient population is used to define what that landscape of diversity is in the human population is incredibly important. And it's also essential for translating that information into something that can be brought into clinical practice. So we all know some of the main points here, gender and ethnicity are important factors in disease presentation and treatment. The safety and efficacy of medicines require data from clinical trials with participants that represent the full spectrum of genetic diversity, and I think this is one of the real challenges that we're facing in genomic medicine is getting to that point where we have that representation of the full spectrum of genetic diversity in human populations. And you know, if you look at the trends, by 2020, ethnic minorities will constitute about 35% of the American population. And the last two points, the last two numbers there where African Americans make up currently 12% of the population, but just 5% of clinical trial participants. And for Hispanics that make up 16% of our population, but just 1% of clinical trial applicants, it really illustrates the gap and the gaps that we're facing that are really important to fill if we're going to have the impact that we want our science to have in genomic medicine. So when we're looking across the board at especially some of the NHGRI initiatives or initiatives that NHGRI is going to be an important part of such as precision medicine, a lot of the research programs that are in the portfolio right now do take into account or are trying to address some of these diversity questions. And hopefully in the discussion representatives of some of these programs can share with us their efforts in increasing diversity and also how they're addressing some of the barriers that we know that are being faced in doing so. But PAGE, population architecture using genomics and epidemiology, certainly for that project to have the impact scientifically that it needs to have, has to have representation from across the full spectrum of racial and ethnic diversity in the U.S. The interpretation of the results, returning genomic results into electronic medical records, all of these things there are diversity aspects to and especially precision medicine which I think represents one of the true opportunities that we have going forward to help improve representation. Barriers and opportunities, the barriers kind of outweigh some of the opportunities at least in numbers at the moment. But a lot of these are very difficult to address and aren't really necessarily scientifically easy to address. So a lot of these have to do with culture and society. And a few of them here are the influence of genomics data on concepts of race and ethnicity already a very difficult subject to talk about in normal day-to-day conversation but even more difficult when you think about what it means for medical practice. Physician attitudes and beliefs about race, health and genetics and how those influence how information is interpreted and then translated into practice. There is a history unfortunately of that serves as a basis for mistrust of research motives among minority communities. And overcoming that history is not an insurmountable barrier but it certainly is one and part of that mistrust comes from the fact that there is often little visible return to the community for their participation in these research efforts and I think important lack of continuity into the future when people do participate in research trials. Lack of involvement of minority investigators and physicians, community stakeholders, language barriers, just general awareness of clinical trials and research opportunities, time because it does take a tremendous amount of time to participate in these things on both the patient's part and the physician's part and we all are aware in our own research lives of the bandwidth issues and these are true when we're trying to tackle the issue of diversity as well. I think one of the aspects, one of the barriers that came out has come out several times in a number of studies including the impact study which I'll point to next is the lack of access to clinical research coordinators. So really engaging communities in research trials and keeping them involved really requires active participation by these research coordinators. They're often essential for maintaining that sort of day to day contact and if they aren't available, again probably more because of financial issues than anything else, it is certainly one of the things that I think impacts the fact that we don't have the diversity represented in these populations that we would like. One of the earlier slides showed the patient with the Fitbits and the sensors and all of that kind of stuff and I think access to technology, that kind of technology, I don't own a Fitbit but those kinds of things I think are actually going to become even bigger barriers, that kind of stuff. High-speed internet, so I live in Maine which doesn't have a lot of racial or ethnic diversity but certain socioeconomic diversity is key in Maine and rural geographic distribution of patient populations where there isn't a whole lot of high-speed internet in a Roostock County where Moose outnumber routers, so I think these kinds of things have to be taken into account, geography and transportation. So the proximity to medical and research centers is another big barrier to increasing diversity among patient populations and care systems. And this is the impact study. So this was from 2008 and I was really intrigued that many of these issues that were identified as barriers in terms of increasing minority participation and awareness in clinical trials even in 2008 are still probably some of the main barriers that are being faced today. So recruitment of minorities, what are some of the recommendations that the panel members came up with and they're illustrated here. One is forming consultant groups for both researchers and physicians, so outreach, education efforts, that is certainly something that NHGRI has done and could continue to contribute to recruiters who are culturally adept and fluent in the language community assessment because I think there's not like one barrier that could be common to all communities. Like each community is going to have unique barriers that have to be addressed and overcome and I think that kind of assessment has to be done for each case and awareness of population beliefs. The involvement of the community with advisory boards and local consultants, kind of a partnership model to engage, educate, work with different communities to bridge some of these gaps. These are some of the recommendations of the panel and I'm sure individual panel members will want to comment specifically on some of these bulleted points. For potential synergies, again, for addressing the gap, there are a number. So obviously there's a number of projects in the NHGRI portfolio where these gaps and these opportunities, gaps could be identified and opportunities for addressing those gaps. Vence wanted me to make sure that I mentioned the Precision Medicine Initiative and the fact that there is an RFI out now. It's still active. You can still contribute to that RFI on the Precision Medicine cohort. And I think that is one of the opportunities here that we have as a community to think about and have input on addressing gaps and diversity. That Precision Medicine Initiative, I think, is an important one, important opportunity for dealing with some of these things that we know are problems. There is an NIH Common Fund, that was NIH Common Fund and its role in some of these big community sort of initiatives and problems was mentioned last time and there is actually an NIH Common Fund project for enhancing diversity in the NIH funded workforce, which is not specifically about getting patients in to these clinical trials, but it is addressing the issue of what the community of research and healthcare looks like as one of the ways that we can have inroads into outreach to specific patient populations and having them be more involved in the clinical trials that are active now. And there's a lot of non-NIH initiatives, a lot of community initiatives. Just a few of them are listed here that are trying again to address these issues and I don't know how coordinated some of these efforts are, but there's an awful lot of them going on and I don't know, maybe there might be opportunities for more synergism among them. Training opportunities and addressing the lack of diversity. Again, this is an area that NHGRI has played a leadership role in for many years and NIGMS as well and there are many, many reports with recommendations for how to deal with this. Many programs have come out of this for training at all levels of education spectrum. We just can't stop basically. These things have to be continued, monitored and we need to make sure that we keep on top of this so that we can improve the number of minorities both in biomedical research and medicine and then use that as a basis for changing the face of the community for identifying and recruiting patients into these clinical trials. So recruitment of postdocs and faculty. So looking specifically at the part of the big effort in increasing diversity that relates specifically to academia, to postdocs and faculty. So some of the points that members of the panel made were the outreach to historically back colleges and universities to use these collaborative relationships to leverage existing bodies within NIH such as the Division of Minority Student Affairs, looking at finding liaisons, that personal contact is essential and to look at existing programs as models for how to do this broadly across our academic institutions. And examples are given here and I'm assuming all of these slides are going to be available to all of you after this meeting. So in retention, for the aspects of retention, so those are recommendations about how to recruit and get folks in, but then once they're in, they have to retain them in order for the impact to be real and that involves having supportive environments, mentoring teams, minority members on faculty hiring and mentoring teams, meeting frequently, cultural sensitivity. All of these things are important and essential and I'm not sure how widely in place they are across our institutions. And I think this came mostly from Cindy as some examples of some resources that people could turn to to look for very specific information about supporting and encouraging diversity in research. So at the end, we had a number of main points to convey to you about diversity. One is that just to re-emphasize its importance of diversity for both discovery of the variance and understanding their health relevance. That there are many, many training initiatives underway at NIH to increase diversity in the biomedical workforce and those need to be continued. That the barriers to increasing minority and ethnic diversity both in things like clinical trials, but also in research and in healthcare in general are quite diverse and that we need to continue efforts at all levels of scientific inquiry, medical practice and clinical trials in order to have some impact here. Now I think as mentioning again is that the new precision medicine initiative provides kind of another opportunity here for us to really have an impact on the diversity gap. And there's obviously we're going to have to leverage a lot of efforts that are happening across NIH and also in the community in this area. And I don't know logistically how that might be approached, but I think it really has to be. One of the starting points is to go to that RFI for precision medicine on the cohort and register the need to be sure that the diversity of the American population is represented in the cohort that serves as the basis for this initiative. So in general I think the NHGRI program portfolio is quite comprehensive and it covers everything from basic discovery variants to functional characterization to clinical use, but we need to make sure that in all those programs underlying all those programs is an awareness of and deep attention to improving the representation of ethnic and racial minorities for both discovery and characterization. And before we go then to the discussion, I just wanted to make sure that the panel members who contributed to these ideas had a chance to weigh in. So Cindy, why don't we start with you and then Benz and then Craig. So I think, you know, part of it is our own demographics in our state and our patients and our prospective research subjects. But so there's, you know, relatively little that one can do for that. But when I look at some of the projects that we've had and talking to some of my co-investigators on projects and how we did it like in one of our earlier newborn screening research studies that we did. I think the idea of, you know, the recruiters who are, you know, able to speak the appropriate language and so on has really been helpful. Our CTSA has funded a van, a medical type equipped van that goes around the state so that, you know, it is a fairly large state and transportation is difficult for many families. So this is a way to overcome that. One group, part of our Center for Excellence in LC Research, a project that they've been working on the last few years and they developed this community advisory group, very ethnically diverse and they've really had input into setting up the actual study itself. Part of that came from the success of enrolling our students and fellows in the SEER and, you know, I was struck and specifically I need to, thanks to Deborah Skinner who's one of the investigators in that project, but Deborah's really gone out to, you know, two colleges and formed relationships. I mean, she really stressed the importance of one-on-one, you know, building these, you know, communication abilities to, you know, find out who's good at various, you know, colleges, universities, medical schools and trying to recruit them and the importance of starting early so that, you know, if you're, if somebody's already completing their PhD, you know, they may not, you know, know about opportunities in genetics, training programs and so just starting early. Speaking as a program director for medical genetics, I don't think we do a very good job in this and I think we could all do better, but it's been a challenge. You know, some of the programs like the ACMG summer scholar program and Jonathan heads that up at our, at our university, but you know, certainly things like that are important, so funding undergraduate students and medical students for summer projects and, you know, getting them early and also, you know, being one of the faculty in a genetic counseling training program. I think there's, you know, definitely a need to recruit more underrepresented minorities to our genetic counselor population and so again, you know, starting early, I think is very important, you know, even undergraduate high school age. So I want to start by, why is this important going back to the question of why should we even be spending our energy and our time on this? And I think this group in this room knows it better than most that there's a scientific imperative that we have to have ancestrally diverse populations in our studies to do really good science. So there is a important scientific requirement to have the ancestral diversity, but then there's the flip side of health equity and a social justice issue for our country to make sure that all of our population has the ability to benefit. So as we think this through and what we're doing and how within your projects and within your institutions and how our institute is thinking about this, we really need to be thinking about both of those issues, but it's primarily an issue that we must have strong science and to have the strong science, we must have the ancestral diversity of the populations. And I think that's a couple of issues I want to highlight. One is there's been a number of studies over the last few years about participation in clinical research and under represented groups and the historical issues of the U.S. public health syphilis study commonly known as the Tuskegee syphilis study. And what we've learned is that people actually are not fearful of participating in research. People want to participate in research if they see it benefits themselves, their families, their communities. And so it's really more this context of helping the public understand why to participate in research and appropriately. And again, that gets to the staff and the investigators involved of reaching those communities. So I think one of our challenges in our research and research going forward is studying these issues in different ways of how do we engage diverse communities, communities have been left out of research and new ways and new models and new strategies. And I think that's a area for real opportunity for research as we go forward. So I thank Carol for plugging the RFI. I'm going to plug it one last time and the actual closing date is on June Friday, June 18th. But I asked this community to respond to it because it's asking both for strategies to engage diverse communities. And many of you have great experiences that you can talk about or opportunities where new research is needed in that area to better understand to do that. And then it's asking questions about what are the potential health disparities research science opportunities that a precision medicine initiative could do and your perspective as scientists on the ground doing this work I think will be so important to be part of the content that we're able to share with the director. So I guess my first comment is there's a scientific imperative that we have to have and such really diverse populations and so we need to figure out how to do that. Second, there's a social justice and equity from a perspective of our country and the health of all of our country and third people are willing to participate in research and your voices I think are extremely important to help our institute help NIH and help our the broader policy issues of this of making sure that that occurs. So I appreciate the opportunity just want to emphasize a couple of things. One is this notion of health disparities. It really exacerbates the whole problem that the clinical trials side shows we're seeing a change in the epidemiology of a number of diseases that are unprecedented over the last 30 years and it appears to be continuing in an unabated fashion. So it's back to the scientific imperative that we're going to understand these changes. We better be looking at the right populations and the right populations is a diverse population and a diversity of populations and so that's going to become more and more of a challenge. It becomes a challenge in the context of genes. It comes as a challenge in the context of genes and environmental interaction that we really have to address the training aspects we in our own institution and others I'm familiar with. We often have training programs. It's the pool of trainees and pushing it back even earlier and earlier into the training when we identify individuals that can come along by the time we get to a postdoc training program. We've lost a lot of opportunity in the background that I think we really have to get to then in terms of just the sequencing without sequencing diverse populations. We run into a number of problems and just one anecdotal story in neonatal diabetes. We identified a mutation in a gene that's known to cause neonatal diabetes. Everything is great. We wrote a report on that ready to submit it on Friday waited till Monday and data on 1300 individuals and a different ethnic group became available and it turned out it was an ethnic specific look like it was damaging mutation that doesn't cause this disease and so we've got to have it's almost the forensic problem all over again and we're going to have to face that.