 Hello, good morning afternoon or evening everyone on behalf of the National Human Genome Research Institute I'd like to welcome you to the 14th roughly annual genomic medicine meeting this time on genomic learning healthcare systems. I'm Mary Manolio of the Division of Genomic Medicine here at NHGRI and we're showing on the screen the first day's agenda and then thank you. And then if you could go on to the objectives, the goal and objectives for the meeting. These are all in the meeting booklet and there's actually a wealth of information in there, including short bios of all the speakers. In the interest of time we'll just ask our moderators to introduce the presenters and panelists by name, as shown in the agenda, but you can click on the agenda and it will take you right to the bio. There's also some background information in there which hopefully you've you've taken a look at before we get started there's a list of attendees. And you'll note and includes registrants from Europe, Africa, the Middle East, the Far East. So welcome to you all. We're looking forward to an exciting two days. To start by extending our sincere thanks to six of the many people who are actually making this whole thing work. Teji Rapra Burris and Pamela Williams from Duke University. Johnna be Nerola and Ellis summer from my group, who are our rapporteurs for the session, and Alvaro and Senus and Gerald Samani along with their colleagues from our IT group, who make all the IT and recording magic happen. So at this point I'll turn it over to our co-chair Pat DeVerco senior vice president at very next solutions to get us started. Pat. Terry. Let me just go ahead and share my screen here. So, as it as Terry mentioned, and in the very clear objectives for this meeting and what we thought was important was that we track progress that we've made since a meeting that was held in 2015 about genomics enable learning healthcare systems. I was sponsored by the round table and translating genomic based research for health. And at that time the co-chairs of this round table were Sharon Terry and Jeff Ginsburg. And I know Jeff is going to be participating here later in the program. So I thought it'd be good to ground our work and sort of what what were the thoughts then, and let's see if we can track progress instead. So these were the workshop objectives. It was to really explore how key pieces of genetic or genomic information to be effectively and efficiently delivered to patients and clinicians for improving care. And how both the healthcare system and genomic data can be used for evidence generation in research and patient care, and to assess best practices in for using knowledge generating learning healthcare system and which models could provide an opportunity for genomics to be used in the rapid learning process. So very ambitious goals and clearly directly related to the goals that we have as well for this meeting. They had a series of questions to facilitate the workshop discussion, and it was really how can health systems engage individuals to achieve health using genomic and other technologies, and how can systems providers and patients learn from failed efforts, so that we can continuously improve health and treatments, and how can genomic data be used to support patient centered care, and how can health systems help research and care teams have access to all of the data. So again very comprehensive very broad thinking about the genomics learning healthcare system. So what were the themes from the meeting and so this, you know, there's a very nice summary was provided to you in the booklet, you also were provided the link to the full report so this is a very sort of high level. Sort of what did what did the groups determine, and they thought that genomic learning healthcare systems definitely have the potential to improve population health, solve care management problems and develop effective implementation practices. So clearly focus on clinical care and care delivery, but also could be used to support discovery research looking for associations between genotype and phenotype. But all of the the positive benefits of a genomic learning healthcare system were really impeded by the lack of high quality accessible interoperable genomic data in the EHR. And clearly there was a need for that problem to be overcome there was a need to develop data standards and as well as scalable clinical decision support systems. It was also recognized it was really important to engage patients to understand their preferences regarding data uses and how the genomic learning healthcare system broadly would be communicated to the public, because it was discussed that we clearly needed processes to ensure a trustworthy system. And so topics such as informed consent confidentiality data security were all topics that were touched upon. And then this is a little bit of editorializing on my part I work deeply in the area of trying to develop evidence of clinical utility for genomic interventions meaning specifically that use of a genomic intervention would lead to a change and provider and patient behavior, and that behavior change would lead to an improvement in health outcomes. And so there was a recognition that that sort of chain of evidence that is ideal was lacking and because of that I mean it's obviously important for clinical practice but it's also very important to get payer reimbursement as clinical utility is a an evidence threshold that payers looked to book in order to provide coverage for the genomic intervention. And there was some but I would say a much more limited mention of things like health disparities and the need for social science and behavioral research as part of next steps in terms of implementation. And then it's just worth pointing out that the really the whole conversation is was very US focused. And so they proposed his next steps and I think this is kind of a launch pad for us. All the steps to improve the IT infrastructure are really critical I've touched upon things like data standards, and how you need to be able to support clinical decision support systems so such that we you have confidence that the algorithms being used or valid, and that these tools could be shared. There was a series of next steps around encouraging or incentivizing data sharing, and a real emphasis on the role of the patients and patient provided data, and how we could integrate that patient provided data into the information technology systems as well as the typical clinical data, and then obviously a need to measure health outcomes and do it by engaging stakeholders who all have a vested interest in the results so getting their perspective and developing studies that would be relevant for clinical decision making, and that there was a mention that it was important going forward to track health and health care disparities, and to be able to try to understand the priorities and values of patients and providers by using social science and behavioral research methods. So I'll just close and this was the last quotation, quoting Jeff Ginsburg about how things were left. The close is that we should really be thinking about how we can begin to build the system that's going to support genomics enabled health care. So in 2015, we were thinking of beginning to build it and I think what you're going to be hearing for the next two days is how much progress has been made. There's quite a very excited to see the presentations and hear the discussion, because I think there has been quite a bit of progress, but this 2015 meeting was a great first step. Okay. So I think I am also going to be introducing, you're going to go through the goals and objectives. Yes, I am. So let me actually I pulled them down, but I'll do them at the end. So great. And let me just this and this and you should be seeing a full presenter view does that look about right that. Yeah. Okay, super. Great and thank you very much Pat for for bringing us, you know, kind of up to date with the 2015 meeting and what the goals were there. I saw a comment from Sharon Terry, who's who's in the attendees and so perhaps during the discussion we can ask her. And Jeff, who chaired that team to make some make some comments about it. I just wanted to talk a little bit about these meetings in general as I mentioned before this is our 14th. These are organized by the genomic medicine working group of our National Advisory Council on human genome research. And these members of the group, many of them are current or former measures members of our advisory council and you can see the list of them here. And then there are several of us from NHG or I who follow their lead. And just showing you here the plethora of meetings that this group has organized and led several of them leading to publish papers and this was my sort of ran out of room. I'm going to talk a little bit more. The most recent one was in February of 2021 you'll hear a little bit about that from Ken Wiley a little later today. And then of course this one on genomic learning healthcare systems. Just to give you a feel for the kinds of outcomes from these meetings are very first meeting was in Chicago in 2011. We basically just identified as many people as we knew who were doing what we would consider to be implementation of broader scale genomics, you know, beyond just one or two genes and that in clinical care. And from that came up a subsequent meeting we called clean action, looking at developing agreement on how to interpret and apply variance that led to the clinical genome resource which is one of our largest and most broadly spanning programs involving over a thousand years around the world. And they've most recently published a paper on the gene curation coalition which is a bringing together of 12 major groups that are doing this kind of curation. So, so lots of things to come as well as have already come from from that also from the first meeting in our electronic medical records and genomics program, we implemented a pharmacogenetics testing platform and returned those results. Now, we held a second meeting on recognizing that we needed to develop collaborations from that came the implementing genomics and practice program or ignite. I can't show you all of them but just a few selected ones from the fourth meeting on educating healthcare practitioners. We developed the inter society coordinating committee on practitioner education in genomics or is CC. One was on global leaders in genomic medicine so basically the same kind of format that we had done for our very first meeting which was purely domestic us, except we invited folks from all around the world, several of whom are registered for the meeting and that's great. That then led to starting the genomic global genomic medicine collaborative and its subsequent program the international 100,000 cohorts consortium, which is consortium as you might imagine of 100,000 plus individuals, you know, per cohort although some many of the cohorts are smaller focusing on genetics but also addressing a number of different things. The eighth meeting was an overview of our major programs that led to a series of efforts in developing modules in genomic medicine that are being made available to the scientific and clinical communities for use in education of providers. Our ninth meeting on sort of linking basic scientists and clinicians led to a very successful program announcement led primarily by our sister division, the division of genomic sciences on variance function and disease. Our 10th meeting on pharmacogenetics led the ignite program in its next iteration to begin a large scale trial of pharmacogenetics called adopt, which is looking at three different interventions. Our 12th meeting on implementation led to a discussion among employers on how to use genomics in their health systems, which is something that's still sort of incubating as it were. The meeting on polygenic risk led to incorporation of genomic risk assessment into the electronic medical records and genomics network of the emerge network, as well as a new program started by my colleague, Lucia hindorf and now led by by Ken Wiley in our division called the prime to consortium primarily at polygenic risk methods development in diverse populations. And our 13th meeting which as I mentioned you'll hear more about was led to a notice for requesting applications basically in patient centered informatics tools. So, lots of things come out of this meeting and we're expecting these meetings and expecting this one to be no exception. The structure of these meetings is typically what you see we've in the past have done them in person that we were a little bit shaky about whether we'd be able to do this one in person given changing rates and that sort of thing so we, we sort of punted and went virtual and hopefully our next ones will be able to be in person great. We focus on on really trying to build a community around genomic medicine research and implementation, as well as collaborations in that. And I would note just during this meeting, you know one of the nice things about meeting in person she can lead over the person next to you or you know that coffee or whatever and and make a comment. To allow that we've enabled the chat function, but however, however, we really ask that if you have a point that you want to raise for discussion please try to put it in the q amp a box rather than the chat, because we'll be watching closely the q amp a box will try to watch the chat but if we don't get to it we will have those stored and if we can get back to you we will try to do that. Another goal of this this meeting which I'll go over in a second is is to identify research directions not just for an HDRI but for the scientific community at large. And we and others can then potentially consider and fund programs that might be initiated by a single investigator or group of investigators or or by our institute or other institutes. We try in these meetings to emphasize discussion, because we really, you know if we all we wanted to do was just to have people talking at each other. We wouldn't need to bring you all together at the same time. So we're trying to arrive at the at the end of a session at the end of a day at what we all know together, rather than what each of us knows individually. I find a member of the general medicine working group is a co moderator for each session and they are paired with experts from the scientific community for moderating. And for all of these meetings if it's warranted if there's enough new information, we produce a white paper for peer reviewed publication, both the findings and the future directions of the research in that particular area we would hope to do that. If it's warranted and typically the authors of those are the moderators and presenters and panelists. So that you're aware of that and then as Pat mentioned, these again are the goals and objectives of the program to discuss progress and identify solutions and really emphasize the solutions. And we'll talk very briefly after Peter Q looks talk about their barriers but honestly, you know having been doing this for the past 10 or 11 years or so. We hear a lot about barriers so and they're pretty much the same barriers, you know some of them have been resolved but but many of them have not or not fully. So let's try to get away from, you know, worrying about the barriers and really try to focus on what are the solutions that people have come up with. How can those be shared and what collaborations can be formed about them. So, we'll be exploring some real world examples of how genomic learning healthcare systems apply the virtuous cycle is that you can see on the left here of implementation evaluation adjustment and updated implementation across various delivery systems. And we'll look at a few barriers to mention them and identify potential solutions with a focus on the lessons learned from effective genomic learning healthcare systems, and especially their potential transport ability and into other settings, and then determine some ways that solutions can be developed and shared, and importantly collaborations can be formed to facilitate research on implementation of genomic learning healthcare system so with that I will stop sharing. And with that, I turn it back over to you now to introduce our moderators for session one.