 Many of you yesterday from potential partner sites We still need to work on identifying infrastructure needs. There was a fair amount of discussion yesterday that overlapped with the need for databases and data sets that allow us to especially Characterized variants, especially ones of unknown significance at least to know that they've been seen before And then to establish mechanisms for sharing of best practices And I think we haven't really had much time to talk about that I think maybe there'll be a little bit of that in the panel that Pearl will run this afternoon or the end of the session this morning Highlights from yesterday. I think just to get people reflecting on some of these I thought the session with Institute from Institute with institutional leaders was pretty useful I think a couple of key elements that we heard were that if you can make genomic medicine part of the institutional strategic plan That's an especially valuable thing to be able to do and I think We heard also that The ability to demonstrate value and especially in the cost arena is something significant So I think that's something that we all really need to be paying attention to as we do our science is to think are there Sort of cost arguments that we can make that help play and I and I particularly liked Joanne's comment that genomic research needs to be part of the cake and not just the icing I thought that really set the stage pretty nicely one of the things that we've thought about is It might be actually particularly useful and Maybe Mary and David you can carry this message back if they would even consider a Perspectives piece that could be published that would talk about the value of a genomic medicine Institutionally and what what the issues are that? Need to be thought about We heard about a number of collaborative opportunities yesterday I'll just run through these list of these but pheochromocytoma or all microbiome family history tool in the area Pharmacogenomics we heard about the CPIC recommendations and the need to go ahead and Make sure that as many of the places as possible are really starting to think about how do you implement those recommendations? I think Howard certainly argued that they were ready for primetime and so we should be doing those We heard about the 1200 patient project and the opportunity that as it moves from phase one to phase two There will be some new opportunities for folks and then we heard from Alan that Papi two is about to launch and they're looking for Participants as well in the sequencing area I'm not sure really how to translate these into collaborative opportunities If any of the three of you that presented yesterday have ideas that would be great to hear about those But we did hear about the Milwaukee principles in Howard's presentation I think just thinking about those principles that they're using to figure out what projects are Ready to be pursued makes a lot of sense. We heard from Scott about the partners Clia lab and Whether that's something that would be willing to take external users is something that would be interesting to hear about And then obviously we heard about the ex home server at UW and some of the projects that are that are ongoing there And so I think all of those are things we want to probably keep in mind Finally, I think we came away from yesterday with at least a few action items that we could think about One idea that seems pretty interesting is to think about bringing together the CEOs of health systems around the area of genomic medicine Helping make them better aware of it having some discussions about the value genomic medicine may bring I think most of us are believers that this is a cost saver Potentially and I think that argument needs to be made We keep hearing over and over again the role for the patient in this whether it's patient portals Whether it's patients as advocates For for the research itself whether it's patients that are part of the solution to help us get a beyond the problem of Why we might not be able to do stuff because the IRB doesn't want us to I think if the patients were able to weigh in more on some of those issues That would make a huge difference and we need to think about mechanisms to achieve that We heard especially from Howard the Discussion about in a certified software for sequence analysis, and that's probably a fairly lengthy discussion that needs to be had and Then demonstration projects showing cost effectiveness and and utility and I maybe we'll hear about some of those in the breakout session reports So the goal for today, then is we're going to hear from a few additional Genomic medicine projects that we didn't have time to fit in yesterday We'll get the breakout session reports and hopefully from there a few more action items to take away from this project We're gonna have I think it'll be a very interesting discussion about navigating the boundaries between Research and clinical care, and then we're gonna conclude by seeing if we can pull some of this together In an open discussion with everybody that'll help us frame what next step should be for genomic medicine going forward and Especially to have some discussion about what the meeting that's currently scheduled in May for Chicago Tendably called genomic medicine three very creative title Would would would focus on so that's what we're about today We have a couple of minutes if anybody has any comments I'd like to make about observations they made from yesterday or if there's Action item that people would like to put on the list that I didn't have Silence up So I'm wondering if you know what you described as the Milwaukee principles Which are literally like might be something that we could we could get the Milwaukee group to sort of codify for us And and share around would you guys be interested in doing that that would be that'd be fabulous And I also should That's in in terms of the the approach that they have for selecting patients for sequencing. I believe that was what you Anyone else? Eric just mentioned and maybe I'll yeah. Hey Bill. Goll. Bill. Yeah, just one of it Since you happen to be here I don't know if you heard Howard to talk yesterday or not But it might and I'm not saying we need to do this now But it might be interesting to hear a compare and contrast at some point yet I'm not sure this meeting even is the time to do it sort of how The walkies group came up with sort of the criteria they use for applying genome sequencing approaches for their Diagnostic odyssey's and compare that and contrast it to the undiagnosed diseases program and the approaches that you're using here at NIH For making decisions not only about which patients to admit But then which ones are those might a genomic approach be helpful So and it might be interesting to compare and contrast and there are other groups that are doing similar things I'm not saying we're gonna do that now. I'm just putting that on the table Yeah, that's what I thought might be interesting We're just putting things on while I have the microphone and while we're making lists and maybe less than bill since you're both sitting next to each other I would think immediately if you got one of the things that came up at the dinner I was at last night what and I don't know where we will fit it in today, but some people were asking me as we think about possible Collaborative ventures that might come out of this group or things we might want to try contributing to some some consortium efforts Not surprisingly some people don't understand all the nuances of the NIH clinical center and ask the question If we come up with some ideas for some things what role might the clinical center be able to play in some sort of Consortium collaborative effort, and I don't know maybe at some point and here And I would figure out where we do maybe if one of you could just give a five minute Explanation of what can what what goes well in the clinical center? What doesn't how they might play a role in some collaborative thing? I maybe people just give a chance to ask questions because again the Outsider sometimes the nuances of the clinical center can be complicated, but they're easy to answer So you guys are going to be here in the morning, you know, sometimes we'll try to get five minutes about that Yeah Fourth and fifth third and fourth Chicago I Think this I don't know the site set yet, but in Chicago Related to software would be an FDA issue only when you get to the point of something being totally kitted At the moment we're talking about everything in a clear laboratory environment There's no such thing as clear certification on the software analytical component The laboratory is certified the laboratory has to demonstrate how they do their analysis It all has to be documented and validated internal to the laboratory and Creating a discussion towards standards with the appropriate professional Societies and the laboratories doing this would be a great thing, but I wouldn't use the term certified software noted and maybe maybe that's an example of sharing of best practices as people Develop documentation around particular pieces of software if other labs were using that same software that documentation might ease their pain in terms of getting their Documentation going Mark don't create trouble Anyone else All right. Well, yes, Terry. I do have to make a little reminder to my federal colleagues who had lunch yesterday You do need to pay for it. There's no such thing. So Anyway mark mark Braves who's sitting outside would be happy to to take your cash. Yes, sir. Yeah, the place we could share Combine groups from the sequencing side would be to share sequence genomes many of us have sequence genomes So I think is there a way to set up If nothing else a repository where you can put genomes in and you can then use that as a Comparitor so that's another place where I think we could as a group share Trying to do something like this NIH wide to bring together all of the sequenced program, you know projects throughout NIH Which is a good 60 70,000 people so far and climbing. I mean it's really really going up quite a bit And NH NHL BI has already done this I think with the exome server On 5400 individuals that's more than 10,000 human chromosomes is on this exome server I could send it to terrier or to rex and they could send around the link Okay, great It was in it was in Gale's presentation yesterday, but send the link for sure I'll share it. Yeah, if you go if you go exome variant Excellent variant server you'll find it But Howard to answer your question directly this is not escaped the attention of NIH leadership that the opportunity Absolutely have to be used sign of this area NHGRI has been asked to take the lead But we have partners that many other as we have a whole working group of individuals from other institutes There's already been lots of planning. There's a workshop. We're gonna be having and there's We it's gonna get it's obviously gonna need to be some funding to make a robust infrastructure be built And then we don't know where that's gonna come from we're working on that But but this we completely agree with you and we hear this loud and clear from multiple different people that it would be very helpful to get not only all the data in one place, but maybe some of the Software tools for that are very routine for analyzing new sequence data comparing it to large data sets of so forth I think though what Howard was if I understood correctly from our group We were talking about something a little bit more than just variant calls and data in that a set of samples for which there was probably even Availability of everything from DNA to reads through interpretations, etc. So that people could compare Not only sequencing but interpretations of raw data on the same set of samples and Validate each other's processes and symptoms. Yeah, I see. Yeah, I assume Howard We'll hear more about this in your report from the breakout session. So maybe we can defer That will yeah, we'll we'll hear this in a few minutes We probably should move on and so first on the agenda today is Eric Topol from Scripps who tell us about what's going on at Scripps