 All right. Nice to be here today as a visitor instead of a participant in council. It's a little shorter that way. I get to go home when this is over, anyhow. So today I'm going to update you on what the Genomics and Society Working Group has been doing for the last year, and just showing you who the membership is and point out that we have Amy McGuire is a member of council, and she's on it. And Artie Brie, who I don't see, so she must not have made it to the meeting this time, but also to point out the website so you can also go there and get more information about who we are and what the meetings are and the various activities that we've undertaken. What I want to talk about today, we've been very active since the last time I came in to talk. So I'm going to try to focus in on three of the more major issues that we've addressed. We've looked a lot at the LC program, and some more briefly we considered some issues about the SEIR, the SEIR, there have to be two things that sound like SEIR in the same field. But this is the study section that came about in 2011 and that reviews both LC and research ethics PAs, and then we're going to talk a little bit about the relationship between the LC research program and the division. All right, so we spent a lot of time on this boundary issue, and to give a little bit of background, it is important in the LC community because LC, the field was invented by LC and so it emerges and it changed over time and because of that there's I think a little more debate or maybe it's the same in every field, but there's a debate over what the boundaries are, what are the limits, what counts as LC research, and in part it's hard to answer that because LC is creating the boundaries as they are enforcing them. So there was nothing in particular that motivated this concern, it's more that it is a perennial concern and because we have a new division it seemed appropriate to review some of the boundaries that people were a little bit more concerned about. So one of them is called single disease, that's just a phrase and what that means is that there has been a hesitation or less support in the LC, by LC staff to fund proposals that come in and say we're going to look at LC issues in a single disease in Alzheimer's or autism or colon cancer. And some people have disagreed, they've said well if that's really the best way to study something then why exactly, it seems like an odd prohibition and what was interesting in the conversation was that it was very clarifying because LC staff was able to explain that there really isn't a single prohibition against this sort of research, it's more a question of generalizability and if you have a study on a single topic you're less likely, it has a higher bar basically to pass. So the idea, the recommendation was to maintain the limit but to clarify the language. Non-medical issues came up and that's things like forensic testing, direct to consumer ancestry testing, a lot of these things Larry mentioned. People raised this as an issue whether LC should be funding these because really at the level of resources, you know there's very, you know people have a sense that there's very tight money now and this isn't directly related to medical issues and so should NHGRI be funding that. The sense of the group was that in fact it really should be funding it, they're very important to the public and in the public's mind it's the division, the distinction between genetic and non-genetic or I'm sorry medical and not medical is not necessarily the same understanding that we would have and so if something happens in, I think Larry said if the FBI gets it wrong the follow-up would also come to medical uses so that was a mistake. Anyway so the idea was these are very important issues and we should continue to support them. All right in the last category, the last category we called beyond genomics and what we mean by that simply is that obviously with all the interest in genomics there's research that is developing that is getting further and further away from human genomics and animal genomics that NHGRI is particularly interested in and so does LC follow that dispersion of topics or does LC limit itself? And there have in the past been limitations and the sense was that that was appropriate and they should continue and once again the same with the single disease, I think one of the things that was useful about the working group meeting for staff was clarifying from the perspective of the community why or in what way the policy seemed to be confusing to people in the community. All right so the next thing that we tried to work on was something that we never actually came up with a good phrase for so prioritization criteria is the best we can do here. What this refers to is the idea that again because things are during a period of change the division has been invented and so it's a time to reflect on basic issues boundaries things like that and so one of the questions was what are the underlying or the implicit principles that guide LC funding decisions? So this is not priorities this is not we will fund this as opposed to that or we would like to see something on patient advocates it's not topic-centered it's what are the principles that underlie LC funding and the idea of this was just to have a conversation these are principles that are implicit but have not been made explicit and the hope was that in making them explicit it just becomes a tool that can be used in planning and evaluating and moving forward with LC programs as they emerge over the next decade and so these ideas concepts are not to be used externally it's not again it's not a priority for a grant these are provisional more work will be done they're for internal use so these are the ideas which they're very truncated to get them on a slide so people have questions I'd be happy to answer but in thinking about whether a very a project that's proposed or an issue that's brought up in terms of whether or not it funding it advances these or expresses these ideas so is it consequential so pretend presents an opportunity for impact is it fundamental or basic provides the necessary basic data or encourages fundamental normative or conceptual analysis which the group really highlighted because that is something that's very distinct to the LC program across NIH is the only program that has explicit funding for normative and conceptual work effective in light of LC resources which are very restricted is this something that's going to benefit from LC so is it just you know a pebble in a pond or are we actually going to be able to to make a difference time sensitive newly emergent fleeting sense of disappearing opportunity people were interested in things like you know historical projects for instance oral history projects that might have to work with a population that's aging scientists or people who worked in this field and so there's a disappearing opportunity inclusive is this question significant to diverse or understudied communities or groups with health disparities now understand no one project is meant to fulfill all of these at all this is just a list of principles that the LC project implicitly already has used or that you look back at the history of their project many of the things that they funded and the priorities they have and the topics they pursue express these so this was an exercise in values clarification so as I said before the study section that reviews the LCPA is a new one relatively new developed in 2011 and if I don't know whether people are still here from that but Rudy gave a very lengthy presentation well when it was first invented I've never first developed I'm not sure if anybody's still here anyway so there has been concern about the study section not I think any different than any particular study section communities always have something to say about their study sections I think the issue that was highlighted in conversation was the effect of the LC community being extremely small and the impact that has on study sections so what happens very often is you bring people into the study section for a certain expertise and then they're out of the room half the day because they're in conflict with the proposals and that increases reliance on steps and ad hoc members which sometimes can be fine but I think sometimes in the community people are concerned that there's an inconsistency there's no particular evidence that shows that but it's a concern that people wanted to talk about and the other thing to think about is that very often the kind of expertise that is required in an LC review so history philosophy law are not are not readily available in the CSR pool not that there's literally a single pool but it's harder for them people in the in CSR to go out and find them it's not their natural community so the suggestion moving forward to try to address that is for the LC staff to look into the possibility of being able to provide CSR with a list of reviewers with particular expertise to sort of bridge this gap with what what's the traditional pool of people that are drawn from from which other study sections draw in contrast to the to the LC study or not the LC this year. Okay and then the last thing we did which is very related in many ways to the slides that that Larry was showing is we looked at this question of the relationship between the division and the research program and so he had that one slide that had the circle and then LC almost filled up the entire circle. So the question is as the division develops and as it starts to take on that long list of very interesting consultative obligations and to fulfill the mandate of the division is to build that even more. One of the questions that the working group took on was how to think about what effect or impact that might have on LC and how LC should move forward in in this new in this new picture. So the working group felt that it was an important point important moment right now in this transitional phase to confirm to affirm that there is a distinctive role of LC within the division and that is that it should be the research program and that the LC set aside that has been in place I don't know more than 20 years should go only to funding research should not be diverted to consultation. So obviously there's a mismatch here because you have this exciting growing program but there's a sense on the working group that there really needs to be a commitment to maintaining the research portfolio and the and the work that goes into that and so the suggestion was to add a full-time staff member to the division. So the way it works now and I could be I'm not sure I have the details right is that most of the personnel in the division are in fact LC personnel. I believe Nicole Lockhart is part-time division and of course Larry is as well. But the idea would be if you had somebody who was committed to the division who could help organize and take on some of those consultative roles that they that work could grow and the division could fulfill its mandate overall going forward. What's next over the next year we're going to look more closely at we we did look somewhat at portfolio balance but we're going to look at that more closely. We're interested in trying to figure out a training mechanism in particular because this the seer which has been excellent in terms of training does sunset automatically and there's concern in the community that they lose the enormous amount of work goes into the infrastructure and they they lose the opportunity to to continue working with that they can't apply again which is appropriate in terms of sharing the resources but that's a question. Then another thing we're going to take on is normative conceptual research because what we think is important because it is a very distinctive LC contribution what we think is important is to be able to define and explain what it is and what its particular contribution is. I mean I think a lot of people I know it when I see it but they're really to the best of our knowledge isn't a clear statement of of its boundaries and and what it has contributed and then the question would be given what it its boundaries are given what it's contributed do we think that there's enough of it within the portfolio and importantly do we think that there's something over and above what we're doing now to encourage those kinds of applications because those applications very often come from people with no science background no NIH background they don't know really how to write a grant they're very smart they do very good work but the grant writing process which can be a barrier for anybody when they're first starting is for some of them an enormous barrier that they just don't they don't they don't feel like they have the knowledge to go forward and given that there seems to be a very look there is a very high bar funding now it's very hard for people to decide that they should go ahead and do that they should spend the time to try and then we'll go ahead also and look at some issues that we've started looking at but I didn't report on here because we're not really done with them and that's outreach to the community and some more issues related to sear and that's about it I do want to take a moment and thank the Elsie staff they have done an enormous amount of work for us they have answered our questions they have created so many tables and charts and you know I know having done a little work like that myself what sounds like a simple question about can we just see it this way instead of that way can be an enormous amount of work so Joy Boyer and Gene McEwen and Nicole Lockhart who who isn't with us I really want to thank because they have really facilitated the work of this committee so thank you any questions so thank you it was really informative and and I just will say a couple of disclaimers so I used to be the chair of the of the study section before it converted to this sear so I probably can share some insights about that I mean in the process I don't think that the issue of having a lot of people in conflict is unique to this particular study section because we all from what I remember there were quite a bit of there was quite a bit of conflict on the previous study section I think that's just a problem that has to be dealt with for an issue that has to be dealt with but I wanted to go back to one of your early slides on the one that was yellow okay let's go like the double rainbow I this one the previous one the first one this one there so I found that really curious and I wanted to ask you to help me understand it is this sort of the how the boundaries have been established previously or what's recommended as the boundaries moving forward okay so the single disease is those are all existing boundaries okay the single disease the non-medical and the limit to certain things falling beyond genomics okay so we don't fund projects that come in about stem cells for instance so these are limitations some of which were explicitly stated some of which were not explicitly stated and importantly some of which were misunderstandings so so so in other words I think that the there there is no single disease quote single disease limit in the LCPA but the community interpreted some of the language in the LCPA to say they are not acceptable okay does that help that is helpful I mean I do think it's important to clarify because as I remember some of the very first LC studies did focus very specifically on these this is recent I'm sorry so this is maybe there there was Jean or Joy might be able to speak to this but there was new language that went into a PA I'm gonna say 2006 or 7 that address the issue of generalizability okay but that was then interpreted by people as no more single disease no so you're right the beginning of LC was much single disease but I guess I would then just question what the implications of that are given how other programs within a NHGRI does have a very single disease focus so in some ways I just wonder about creating a limit when that's not the approach that might be used in other funding set okay I I maybe I take responsibility for an unclear slide I think is the best way to think about this let's have Jean is at a mic and then Amy and if not clarified then I'll come back in yeah just to sort of clarify I mean all of these things are things that you know it's not as if we've ever had a specific prohibition against funding any of this kind of stuff these are more issues that have been coming up more recently for example as we've begun getting in more and more studies that are focused very narrowly on a particular disease that don't have great generalizability okay sure we felt reluctant you know we feel that's really what other Institute should be funding and so that's really why this question has come up because it's becoming more of an issue and the same thing with the non-medical we you know we have a long history of funding stuff in the forensic and answers we funded and continue to fund a lot of grants in that area but it's a matter of questions about you know as resources are scarce you know should this continue to be a priority or is this something that should be funded somewhere else okay I understand okay thank you Amy yeah so just just building on that I think a lot of the discussion among the working group was should there be boundaries around this and I don't think this is dissimilar to conversations we've had at this table about NHGRI in general which is other institutes should be funding this because it's about their disease but if they're not funding it should we fund it because we think it's important and if we're going to fund it is that mean they're just going to say well they'll fund it anyway so therefore you know so it's sort of this tension of like we think other people should be funding it but if they're not going to fund it does our funding it mean that it's important or does it mean that they're just going to sort of turf it over to us so I think that was a lot of the discussion and I don't think I think there it was a vigorous discussion I don't think there was clear consensus and it's a really difficult question so I think the the main thing Pamela I correct me if I'm wrong but that that I think there was consensus on was that there should at least be clarity to the community about if there are boundaries where are those boundaries so that people aren't misinformed about what they can submit and what they can't submit and people getting sort of different information and one person submitting something because they think they can and the other person not submitting that same thing because they think they can't does that answer your question I just had one comment on that with the program announcement what we did recently is we have a new program announcement and it refers to the website and we're able to put a lot more information on the website about the things that we're interested in and it's not boundaries but the various examples to make it a lot more clear the program announcement structure it's a lot harder to get that in that language that the program announcement has to do so we also have the ability to update the website and change the website as we go along so for those of you haven't looked in a long time and it's only been up a couple of weeks now take a look at the program announcement website on our own website sorry you can go from the program announcement to the website the NHGRI website and it's an extensive document includes the other institutes that have co-funded that have agreed to co-sign on and have their examples and I have one closing comment when we're done that I think there was also I don't see it on here but I think there was also quite a bit of discussion around sort of this movement from LC to genomics and society and sort of more of the health services outcomes type research that's being embedded into some of the other projects and whether that was a positive mood move in terms of how we're defining LC and how broad we should be defining LC and and again I don't think there was very clear consensus on that but I think there's a lot of opinions about that within the community on both sides yeah yes and just to explain why it didn't appear on a slide is because I felt like these issues really were dealt with very in the end clearly came to consensus the group came to consensus whereas with the health services research they did not come to consensus we didn't have a specific discussion of it and so we will have a specific discussion and that will come up next I'll just state an opinion about that I remember there there's a lot of I mean Amy that's a great point I was you articulated what I was thinking about very well so we must be on a mind-meld even at this late hour in the day but I remember you know had discussions at some workshop I can't remember the specific context of the workshop but there was a whole seemed like a bruja about behavioral science and whether or not that was LC research and then having like conversations about health services research whether or not this helps LC research I think it's all LC research I don't know that I would make a clear distinction between one of the other I think that those are all components of the LC research program that are that's really sort of within the bigger context of genomics and society and so I guess I just wonder what I do remember about that workshop is that you know the the LC sort of acronym is is known worldwide and to eliminate it would be would have unintended consequences I think but you know I do think there perhaps is an opportunity to educate all of us about what is LC research and it's a broader mandate than some of the things that people like Howard might think it is well Howard what is it that you said this morning okay but actually I think you make a really good point I you're relatively new to counsel but when I became director and then we went through the visioning process for the 2011 strategic plan there was lots of discussion around whether LC was holding us back versus the value of the brand of Elsie and if you noticed when we reorganized and we created a division to house I'll say I didn't call it the LC division we call it you tried to broaden it and make a little more vague so that with time that mission could grow beyond the exact words represented by EL SNI and so I resonate with exactly what you were saying so I think we had Lucilla and then we'll go Amy yeah along this lines the set aside just for research what's important is to define what research is and I was a little worried that if research is not defined in terms of you know there are some real problems there there might not very be very appealing to researchers in ethics but they are appealing to those on the I part of it on the implications how we set up certain IRB to be more homogeneous and how they interpret things and so on so the whole aspect of implementation science for ethics related rules or policies and so on is that research or not would that be considered according to this well I think that's exactly the the controversy over health services research so that there are certainly people who would agree that this is part of what is because it's needed for genomic medicine it falls under NHGRI there for LC and then I think that there are people who would see LC as having a more specific mandate to look at the ethical and legal and social not the implementation right I is implications and that is part of the argument and I think that so far there are many really excellent projects that are looking essentially at implementation but the question is this is of an important time I think to define what that's what what what's the range of projects that fall under health services and I think some would not be appropriate and some might be right because I would argue that the eye does is implications and implementation okay yeah I'll say one more thing then I'll shut up but I mean I think there's the other so I think there's two things that I don't know if this is what you were talking about but there's sort of the health services type research but then there's also the kind of service type research of you know many of these large-scale projects have people in the field of LC doing work like you know reviewing consent forms and helping with the sort of more of the regulatory aspects of the project and is that research and I think we also had quite a big debate about whether that should be counted as research and funded through the LC program or not so I think that's an important point as well and I just to just I just wanted to comment on the health services stuff because I also I do some of that research I think it's important I think the concerns that we heard around the table and in the community were just that you know that tends to be very expensive research and that the concern that it would swallow sort of some of the normative and legal and you know some of the really important sort of we want to call them flagship aspects of the LC program and so I'm not sure it was a matter of should we do it or not do it but really more of much more a matter of balance and had it and how to allocate resources I think I mean I think the concern was maintaining the identity of what it is that LC funded research can do that other research doesn't and you do have a AHQ our AHRQ thank you which does health services research and so the question is whether or not you should really be going to the LC community to do research that they're not really capable of doing so Larry you said you want to have some closing comments yeah one historical comment is that at least a long time ago the LC research program also funded educational materials and production and printing and so one of the strong mandates is to stay in the research realm defining research is difficult but we know that printing brochures is not research and that's not in the mandate any longer the closing comment was just about this being an open session and being televised both Pamela and I mentioned the FBI I can tell you definitively that the FBI is actually really interested in this and and reached out to us we had a great kind of hallway conversation with an agent about they want to get this right so I didn't want to leave the impression with anyone watching or the FBI themselves that they notice I didn't mention the other guys that they weren't thinking about that the FBI has actually been pretty forward thinking and proactive and contacted our policy people and we're talking to them and there's an agent outside in the hall wants to talk to you as soon as you're done all right thank you very much all right and finally last but not least least fine goal to give us update on the end code project