Emerge Program Overview - Rex chisholm

Rex Chisholm: -- institutions to really get a wide cross-section of patient perspectives about how participants use specific consents as a requirement for sharing of bio samples and data for future research, to understand which bio specimen, biomedical-related research practices are likely to have the greatest impact are willingness to participate. So the group is hard at work at undertaking this survey, and I think we'll hear more about that in the near future. But this survey is likely to have really important implications for thinking about future policy for ethical conduct of human research, I think fairly broadly across biomedical research space. None of the important contribution of eMERGE. Privacy has been an important part of that, and everybody knows that Brad Malin from Vanderbilt and the Coordinating Center has been very actively involved in a variety of privacy projects to model what the concerns are, to think about measuring risks, and, more importantly, to think about how to mitigate those risks without, in any way, seriously interfering with the ability to conduct the research. And I'll just mention one example of that which is a natural language processing and de-identification at local sites to minimize risk of information. And they've developed freely available software called MIST that was developed in partnership between eMERGE members and MITRE, which is a tool that's available that we think actually can be broadly rolled out that would help be one example of how one might think about de-identifying and reducing the risks of research using electronic health records information. And Brad and his team continue to make important innovations in that area. Finally, I want to just spend a couple of minutes talking about the eMERGE-PGRN partnership. This is an exciting recent development, supplement that has come to eMERGE. It's a collaboration that brings the capabilities from the PGRN network in terms of a re-sequencing platform, the PGRNSeq platform for 48 important pharmacogenes, the drug-gene guidelines that the CPIC standards have developed, and bring that together with the EMR information capabilities of the eMERGE network to produce the eMERGE PGx Project where the goals are to deploy the VIP platform across the eMERGE network, apply to participants enriched for encountering drugs for which there are CPIC guidelines, develop methods for returning appropriate genotype results through appropriate decision support tools to our participants, assess the utility and validity of that, and how the participants, both the physicians and the patients, respond to this kind of a process, and then, in addition, to archive novel variants for further study. These are the genes that -- PGx candidate drug-gene pairs that are being implemented at least at some of the sites across the eMERGE network. These are the ones for which there's actually good CPIC guidelines. And then, ultimately, recruit and collect samples. That's well underway. Some of the sites have already completed their recruitment to undertake the PGRN sequencing. That's also well underway. Quite a bit of sequence data has already been returned to the sites. They're currently analyzing the clinical variant information behind that and beginning to develop EHR integration. I think that's well along at many of the sites. There are surveys that are underway of both patient and physician education, and the first rollout of SPHINX, the variant and phenotype data repository that will hold this clinical -- these variants, especially the ones that are novel and -- Female Speaker: -- they are very poorly implemented in the medical record, very poorly understood by clinicians, very poorly supported in a lot of different ways. But on the discovery side, I am a believer in the GWAS ChIP, and I think even though, you know, I mean you can make reports, but even though a lot of them don't translate immediately to clinical care, you are finding genes that you didn't know were a part of the process. So, for example, with the *** doctor [spelled phonetically], David Cross's analysis found that variants in the same gene that causes resistance to *** infection affect your risk of getting a doctor, and that was genome-wide significant. So this is putting use to biology you just didn't know about that can translate down the road. And so I am a believer in that, and I think that this is a unique resource to look at phenotypes nobody else has or can look at. And so I think there is a real important work still done there. How that translates to implementation, I'd rather do some sequencing to get some [unintelligible]. [laughs] Marc Williams: So maybe you're saying that our future should be sequencing instead of GWAS. Female Speaker: Personally I think that if we're going to move forward, and particularly are interested in implementation, then sequencing is more clinically relevant right now. Male Speaker: So I guess I -- Marc Williams: So actually, Marc, I'll just make two comments. One is: I don't think it's an either/or because I think as Gail pointed out, you know, sequencing is all well and good but there's huge amounts of data. And to some degree, if you can identify potential genes of interest through GWAS where you can then look at sequence variation within those genes, they're going to be complementary, not, you know, one or the other. The second thing is just to get back to your question about the actual clinical implementation. We used our phenotype around abdominally aortic aneurism to develop some genomic information and variant information that we are currently combining with clinical information as a predictive algorithm for those that should be more aggressively contacted and screened for development of abominably aortic aneurism. So I think there are some examples where these genomic risk factors that are identified through GWAS are, in fact, being implemented. And we actually were able to get a second grant to specifically study that. Male Speaker: So I'm going to take chair's prerogative to end this discussion and keep us on schedule. But I'll end it with a comment, that it seems to me that a major opportunity for eMERGE, seeing it now from afar, is exactly the transition between discovery and implementation, and that is coming up with a principles approach by which you take things from discovery and decide they should be implemented, and also create a systems infrastructure for implementing them is a major opportunity of the network that few other networks, because they have a foot in both camps, can look at the transition between them. So, with that, we're going to move onto the panel presentation and discussion section of the agenda, and our first one is exactly on that topic of discovery and implementation and balancing them in this -- for those of you who aren't looking at the agenda, you'll see a recurrent motif here, which is an eMERGE presenter followed by a designated reactor, and then a summary by the panel discussion chair, if you will. So our eMERGE presenter for discovery verses --