 Thank you, everyone, for your comments. All right, we're going to fit one more talk in before lunch, and then we will break for lunch. I guess it's going to be a tag team. So Terry Monoglio and Jeff Ginsburg will give us an update and a summary about this genomic medicine institutes colloquium. Great, good afternoon. It's a pleasure for Terry and I to report on a meeting that was held in June in Chicago called the Genomic Medicine Institutes Colloquium. The impetus for this meeting was several fold, coming out of early last summer. I think there was some feeling that genomic medicine was really not ready for prime time, and there were very few true examples of genomic applications in clinical medicine. And certainly coming out of the strategic planning for NHGRI, there's a noticeable blob of activity beyond 2020 that is meant to improve the effectiveness of health care. So the questions really that we were asking, the questions that we were really asking were, well, how are we actually going to go from where we are today with our understanding of genome biology and genome information to that point where we are affecting health care decision making and health care outcomes. What is actually going on in this field beyond the confines of NIH and NHGRI, and what role should the NIH and this Institute in particular play to support and accelerate the progress of genomic medicine? So Terry and I co-chaired a meeting in Chicago on June 29. As you can see, the meeting, while several important members of the genomic medicine community were not able to attend, there was fairly widespread participation from a number of different types of entities, including integrated health care delivery systems such as Intermountain Health Care and the Geisinger Health Care System, a number of freestanding clinics practicing genomic medicine as well as a number of academic medical centers and a number of institutes of NIH also attended. This was remarkable because no one paid their way and the meeting was also held on a fairly short timeline. So I think this just represented the amount of interest in this field by a number of key stakeholders. The tasks that we identified for ourselves to try to accomplish with this meeting was to really paint the picture of the landscape that was going on in translational genomics and implementation research and try to find some synergies between the various groups. If we could, we would like to define areas where demonstration projects and quick wins for translational genomics could take place now or certainly in the near future. And the possibility of coordinating or integrating or developing some sort of framework for sharing across these various entities was something that was actively on our minds. So as part of the pre-work for this meeting, and I don't expect you to read this, we created a template to try to take a biopsy from each of the attendees prior to the meeting of what they were actually working on. So we asked a lot of questions about the nature of their centers itself, their structures, their funding, what a particular initiative either in the clinic or soon to be implemented in the clinic might look like. This happens to be a template that Mark Williams filled out from Intermountain Healthcare. We asked about somewhat a lot of details about the study design, sample size, funding streams, expected outcomes, and the expected change in healthcare decision-making that might ensue if this was a successful project. So we now have a very nice catalog of information. Many institutes and centers submitted more than one project and certainly we'd be happy to share this information if so desired. But just to give you a sense of the kinds of topics that were already being in action or already had activity around them in various different places, they're everything from whole genome sequencing to solve diagnostic dilemmas. There was a lot of work being done on the pharmacogenomics of various classes of drugs here, anti-platelet agents and statins, the use of genetic risk information or incorporating genetic risk information into risk assessment for cardiovascular disease and for several other diseases. The use of somatic genomic mutations in a variety of cancers, either to direct individuals to particular clinical trials that would marry their genome variation, their tumor to a particular drug therapy or to actually treat them as well. There are again numerous of these projects that we chose to at least catalog and also which drove our agenda. Again, several of which were in the planning stages. There were others that were looking at whole exome sequencing to define variants underlying Mendelian disorders or to integrate whole genome sequencing into electronic medical records and clinical decision making, preemptive pharmacogenomic genotyping both in the pediatric population as well as adults, et cetera. So I think you can see that we were actually pleased to see I should say the heterogeneity, the breadth and diversity of projects that are either already being implemented in various clinics throughout the United States or in which implementation research was ongoing to see how they might be best implemented. And as well, we noted, although I didn't present the data, that there were a variety of funding sources, most of which or many of which were coming from the home institutions that felt that this was the best way to accelerate getting these types of technologies integrated into clinical medicine, not through more traditional federal funding mechanisms. We also asked each participant prior to the meeting to identify the key barriers that stood in the way of translational genomics at their particular institution as well as some of the solutions and workarounds that have been achieved and more specifically to ask where NHGRI might play a facilitative role in developing infrastructure and also research programs so we could begin to codify this information and develop an action plan going forward. And as you can imagine, there were a number of barriers, many of which we've discussed here or another fora. I won't go through these in exceeding detail, but I think it's clear that there's a pining for evidence for clinical validity and clinical utility to foster clinical adoption. That also dovetails with the institutional and physician provider acceptance of genomic medicine, emphasis on education, on standardization, on integration, on accelerating the ability to turn around genomic-based testing information for clinical decision making, as well as a myriad of issues around informed consent, going out to identify at-risk family members, the ability to recruit for these studies, and also the basis for how do we do these studies in an environment where the payers are not necessarily paying for the tests and there is insufficient research funding to accelerate this agenda. So we left the meeting, at least at the meeting, we assembled these issues and I think Terry is gonna give us sort of the going forward planning that ensued following our discussions and some follow-up committee meetings that took place this summer. Terry? And as Jeff said, the main focus that we've had and tried to emphasize has really been on sort of the right side of the diagram, particularly this fellow here and improving the effectiveness and the implementation in healthcare. You've seen this diagram many times this morning, I've probably seen it hundreds of times before that. I never noticed until this weekend that what's on this little keypad is actually a sequence. I am so impressed. That's my hats off, that was really lovely. So at any rate, so this is what we're trying to focus on. Can't read that one, I don't have time to get all the nuggets. That's to get all the nuggets of, yes. At any rate, so as Jeff described, I think one of the main things that came out of the Chicago meeting was a real appreciation of the vast array of things that are actually going on insights across the country and probably outside of the US certainly. But this was very helpful and the fact that we had a number of NIH Institute representatives attending, I think helped to kind of spread that word beyond. At the meeting, we talked about the need to put together some writing groups to kind of codify some of the things that we had learned, not only in perspective papers, but also potentially in some best practice guidelines. People get very nervous about the term guidelines, so maybe we'll just call it best practices and kind of leave it at that. We also would like to explore some of these topics in more depth and so from this group, we could come up with some planning groups for workshops or conferences. And really a potential here that I think can be realized would be to bring them into kind of a loose confederation or even a consortium for collaborative studies because there was much in common going on across the sites. I think many of the sites were surprised themselves to see how much was actually going on and the possibility of sort of knitting that together a little bit better was actually quite exciting. So as Jeff described, there were over 20 genomic medicine centers that are at varying stages of implementation of a variety of projects. They're supported through a variety of mechanisms, many of them through local institutional funds and really not through NIH funding, which is we're delighted to be able to leverage efforts but also to add to them. There were a number of similar and potentially overlapping efforts that could benefit from some collaboration, particularly in increasing sample sizes but also in reducing sort of the invention of the wheel and a number of shared needs that Jeff described in terms of barriers and obstacles. How we felt the group would benefit from periodic interactions in some degree, albeit light of coordination or consensus building with the goal being to facilitate but not to impede the work that these groups are doing. As you're aware, NHGRI is moving very strongly into the genomic medicine field, which has yet to be defined and we hope to be on the cutting edge of defining it. We'd like to identify research directions and priorities and that's been the subject of a fair amount of work that's been going on since the strategic plan was put out and even before that was finalized. We want to promote this collaboration, stimulate investigator initiated efforts and also issue funding solicitations as appropriate and those we would bring back to you, of course. We'd also like to learn more about the genomic medicine centers that are currently in place and have our staff really learn much more about them myself included by visiting some of them and so those will be efforts that we'll be undertaking in the next year. We felt it would also be worthwhile to establish a sort of a genomic medicine working group as a subset of the council. Because this is such a new area and because it's evolving, we really want to work as closely as we can with the people who are actually doing this work and so perhaps get a subgroup of them onto a leadership group for us that would have a rotating membership, at least one council member as a subgroup of council and that would report back to you regularly. Things that that working group could do would be to identify topics for subsequent meetings or subsequent tasks that might not need meetings and to help to plan those out, identify separate topics for working groups versus working groups which might be just go ahead and do it as opposed to workshops where some consensus or broad input in the field is needed. Also from these meetings monitor production of white papers and assist or prod the production of them is needed and also to review progress in a given area both by reviewing the literature and by talking with folks that these folks happen to know for readiness for it being explored and subsequent to working groups. We'd also review progress overall in genomic medicine implementation and identify gaps and opportunities really rely on that working group to do this. We'd want them to identify related efforts and to integrate them as appropriate. You pointed out to us that the ClinVare database that's being developed by NCBI, you mentioned that last spring. We've since looked into that and that will be closely integrated with our efforts to develop a database of actionable variants and an effort coming up this fall. The Emerge Consortium which was refunded for a second phase last spring is heavily invested in clinical decision support and clinical implementation and so working with that group will be very important particularly in pilot implementation projects. The clinical sequencing exploratory program which is coming to this council has obviously some important elements in common and will be important to integrate here. There's a trans-NIH dissemination network that Mark Williams has been working with that we want to be integrating with as well and obviously the Clinical Translational Science Awards the CTSAs will provide a useful background and knowledge base to leverage. Of the topics that were identified both in Chicago and then subsequently for potential pursuit, we kind of divided them into infrastructure needs and research needs. You've already heard about databases and actionable variants. That's one that's moving forward quite rapidly and will be held at workshop December 1st and 2nd here in Bethesda. My colleague Aaron Ramos is leading that effort and Rex Chisholm and Mark Williams are co-chairing it. Collaborative demonstration projects seem to be challenges and opportunities to really bring together these various sites so we see that as where our improving effectiveness can really be brought forward and that will most likely be in November, December of 2011. We're looking for dates now for that and that would be essentially bringing back the group that met in June plus others who weren't able to make it at that time, more of their colleagues, et cetera and really see if we can get them to work together in some small demonstration or even larger demonstration projects. We heard in June that standardization and quality control of clinical genomic testing and reporting was desperately needed. This is a real challenge in many of these sites as to what to make of the sequencing data that they get back that often comes back in different formats. It's unclear what quality control has been done in each of these platforms and what quality control further needs to be done and that would probably be another meeting that we could help hold in the spring of 2012. We also have needs for addressing policies such as what exactly is needed in consents for these kinds of programs, what exactly are the clear requirements and can we work with the CLIA program to make them both as protective of patient care and patient safety as necessary but as little of an obstacle as possible. Also issues related to reimbursement and obviously education, training and user support once we have tools and pilot programs far enough along that they can actually be used. In terms of research an overwhelming need was for further evidence and we've also heard about the interest here earlier this morning and being sure that adequate evidence for using these things clinically is developed for discovery, validation for determining particularly what to do with the actionable variants that are discussed in November, December and also for identifying new actionable variants. Perhaps that could be a meeting in the fall of 2012. Evidence development for effectiveness of genomic medicine so it's one thing to look at what is actually actionable but another to say all right if we start to act on those if we start to report them back to clinicians and patients and we start to implement those doesn't make a difference in terms of patient outcomes. Those are big studies, they're long term but we need to figure out how to do them and also we need to develop tools for genomic medicine particularly clinical decision support, clinical algorithms. Much of this work is going on already and it would be great to be able to bring it together a bit. And that's, there's another place where we'll really fit in clinically. Something that's important to avoid is meeting hell. This is a lot of meetings and shown down here oh man the coffee's cold, they thought of everything. So we do wanna be sure that our meetings are useful. On the other hand, we think just bringing these genomic medicine centers together is a very useful thing and if each meeting can sort of have a focus or a theme we feel that'll be the best way to go forward, whoops. Oh, darn, can I go back? Probably not. I tried, it didn't want me to. So forgive me while my PowerPoint lack of skills is shown here. Okay, so what we would propose for this fall meeting is to, as I said, broaden involvement of the relevant groups, identify some low cost pilot projects, ideally building on funding that these groups already have but perhaps needing a little bit of extra to build on similar efforts across sites, convene working groups and workshop planning to address what we found out in the June meeting, identify additional groups to participate. We might look at ways to fund some of these through administrative supplements to relevant grants that has always been an effective way and certainly we have some grants in this area as do other NIH institutes. And then as I mentioned, be sure that we coordinate in a yet to be determined way with the clinical sequencing consortium which should be up and running by about that time. So I think I'll stop there and take any questions. Thank you. All right. Is there anyone, so I'm really glad this is moving forward and partly because no one else is doing it. And is there someone else in DHHS that could also be drawn into this because the NIH is one segment of this but most of the names you listed up there were places that interact with the NIHS, I'm sorry with the NIH, but don't, they report more to Center for Medicare and Medicaid Services or other places like that. So is there someone within CMS or someone within some other aspect that should also be drawn in because this will never reach the right side of the graph if this doesn't happen. Oh, absolutely. Yeah, so CMS is a key player in this obviously because they're so involved in the reimbursement. I'm clear exactly who the right people to approach there or what the right stage is to approach them. I think we need to have a product but getting them involved early on would be very useful. I agree. CDC with its CLIA program is critical to be involved and they've actually reached out to us and we're working with them on some sequencing quality control and CLIA definitions there. The FDA is another group that actually has been out in front in this in terms of defining pharmacogenetic variants. And the Office of the National Coordinator for Health Information Technology, all of those groups need to be involved. Jeff and I have a former colleague who went in Sean Tunis's group that that nonprofit started that is basically heavily linked, Pat Deverkusen, heavily linked in defining this for devices right now and they've got CMS involved in their discussions. So it can be done and maybe actually that would be one avenue to get them involved. Are there questions, comments, or people just hungers for lunch or both? Well, think about it. I mean, Dave? I had the pleasure of going to this meeting and I must say it was tremendously enthusiastic and I think you guys deserve a credit for putting together that meeting. It was very useful. And was that because you were representing Hopkins or Broad Institute? I was actually doing double duty there. Double duty, so that's why you enjoyed it so much. Oh, I could imagine. Okay, you want to?