 Hi, my name is Larry Thompson. I'm the communications director of the National Human Genome Research Institute at the National Institutes of Health. And with me is Dr. Eric Green, the director of the National Human Genome Research Institute. And we're here to talk today about a strategic plan that will be published in February 2011 that describes essentially the future of the field of genomics. Welcome, Dr. Green. Thank you for joining us for this conversation today. Absolutely. So, Dr. Green, for whom did the National Human Genome Research Institute write this plan? Who's the audience for this? So our strategic plan probably has multiple audiences. I mean, for starters, the genomics community. This is a community of scientists I think that for many years have followed a series of strategic plans as sort of a vision, if you will, about what's the most compelling opportunities in genetics and genomics for the next set of years. But I think there are other audiences as well. I think there's audiences include students. Students both in basic sciences, but also clinical sciences and individuals who are thinking about the future of clinical medicine. But also students in law, students in ethics, students in sociology, public policy. Genomics is perfusing many areas of society as well as science. And the next generation of scholars need to be much more aware of what's happening in this field. I also think the audience includes those of us at the institute. We need to think about what the most compelling opportunities in genomics are and how we want to tailor our programs to maximize the benefits and the opportunities. And so having that document prepared by us has really created an opportunity for us to think critically about what we should be doing as an institute. So tell me shortly, briefly, what the central vision is you think that's described in this plan? This one that we are publishing and will be the 2011 vision for genomics research by NHGRI is much more clinically oriented, thinking much more about clinical application of genomics. And I think in many ways more expansive than the earlier visions were, but at the same time starts to get us closer to the kinds of promises that were made originally when the Human Genome Project was first envisioned. So this plan, it sort of lays out a series of steps that are areas of fields of research that you think need to be traversed to be able to get to that promise of having an impact on human health. How would you describe what the vision is and how those steps that have to be walked through? We describe these five domains, some of which have been very active for the past decade, but others are more far-reaching, but nonetheless we want to think about research agendas that would really inform us and make us more sophisticated in those domains. It starts at the most proximal end of that progression of simply understanding the structure of genomes. Sounds like what we did in the Human Genome Project and certainly included activities that have been going on since the Genome Project. But then it's about understanding how the human genome works and advancing our knowledge of genome function. That was very important and certainly was a major emphasis of our strategic vision starting right when the Genome Project was completed. The third domain starts to apply that knowledge of genomics to advance our understanding of human disease. And here is a progression that in many ways the field of genomics is most aggressively pursuing, really using the tools and technologies of genomics to better understand the molecular basis of disease. And the fourth domain then moves you from having that knowledge of disease to actually changing medical science by advancing how you approach medical science. And there you start to see clinical applications, but you can't stop there. And this was one of the key things we heard from our colleagues in the genomics community and members of the biomedical research community who have had experience in taking discoveries all the way to the bedside. That there's an even fifth domain that one needs to contemplate and that's actually demonstrating effectiveness of these advances to the actual delivery of healthcare. And just because you have a medical advance doesn't mean that it's actually going to prove to be effective when actually executed in a healthcare delivery setting. And you need to actually have a research agenda that studies that last area if you're ultimately going to have an impact on clinical care. How are you going to implement something across this vast scale of work that has to be done? I mean it's not something that the Genome Institute can fund all by itself. It's not something that the NIH or even the United States alone will pursue. This is a global effort. And it's really important just to recognize that many of these things we're talking about won't be just confined to the genomics community. Genomics is perfusing all areas of biomedicine. This is I think fantastic. And most importantly many of the things that we talk about in our strategic vision will be carried out by other fields of study. In some cases in partnership with us. In some cases they don't even need to be in partnership with us. The way you execute it is we'll figure out what we can do best as an institute. We'll work with our colleagues here at NIH and other institutes to think what we can do in partnership. And then there's some things that we expect other agencies, other organizations, other countries to jump in and help as well. But there is a definite sense through this plan that there's a much greater focus on clinical application having an impact on advancing human health than may have previously been made. No question. There's no question. This is a transitional point for genomics in many ways. I firmly believe that we had to wait for the right time to really believe we knew enough. And that we had the tools and technologies in hand to start to make that transition. And much of this is being catalyzed by technological advances especially in DNA sequencing methods that have seen a complete change in the cost models for sequencing genomes such that the cost of genome sequencing has just been plummeting for the past four years. And as a result of that what seemed way out there decades away now all of a sudden seems to be in reach. And as a result it just creates new opportunities and puts us into a new landscape that was previously unimaginable and quickly puts us into an arena where clinical applications become very realistic. Is there a sense of urgency among the leadership within the field of trying to figure out how to take the very powerful insights that are coming out of genomics and have them have an impact in the clinic? I think the sense of urgency is as much a realization of this could truly change the practice of some aspects of medicine. And you can point to very specific examples and I think the ones you're going to see most clear in the next two or three years because we're already seeing it as in cancer for example. Cancer is a genomic disease and the fact that we can now use these powerful new sequencing technologies and comprehensively catalog genetic changes that take place in a tumor and have that information point to the best path forward for treating a given individual is very compelling. And while there's only a handful of examples where that's the case so far we have in place we think programs are going to reveal many opportunities for making that progression in different types of cancer in the next five years and that makes one feel very urgent because you feel like this truly could make a difference. And genomics has been very much driven by technology. How big a role will technology play in achieving that vision that's laid out in the plan? It will continue to play a very, very large role. I mean I think it's part of the essence of genomics, technological advances. And so far in the past five years for example the real push in technology was in the area of DNA sequencing so we could sequence genomes very cost effectively. Now that just creates new bottlenecks that have to be dealt with and we need new technological approaches for solving those. For example when you can sequence genomes for very inexpensively it results in a massive accumulation of data so much so that it actually overwhelms investigators and would overwhelm clinicians. So we need technological advances to deal with all that data make that information interpretable and reduce it to practice in a clinical setting that all requires major technological advances. So given that complexity the visionaries of this field have talked about the advent of personalized medicine at some point where one size doesn't fit all but these are a lot of complex things to still sort of sort out. How long will it take till personalized medicine really becomes a reality something that we'll see in a doctor's office? It depends on what you mean by personalized medicine. It's not going to happen all at once. I would contend it's already starting to happen and I think you will see an increasingly growing list of genetic tests that are relevant as part of standard of care. I think you will see sort of diagnostic tests being developed and implemented for disorders such as cancer before you'll see it for lots of other disorders. Already we're seeing individuals going out and getting their genomes analyzed not through their doctor's office but through companies directly. I think you'll see a progression where at some point that might end up being done more in doctor's office but there's a lot of steps before we can get to see that routinely. I don't think there's going to be a year, a moment that all of this will happen but I think what we want to do at NHGRI is facilitate the establishment of a research agenda that would help us answer many questions that need to be answered effectively before we could really think about implementing this on a large scale but we think we have a much better idea of what some of those questions are and now we want to build a research program to help answer those questions. And so sort of as a last question, are you satisfied with the way things are progressing and what's been learned so far? I'm absolutely satisfied. I think there's been spectacular advances in the field. I think what we try to describe in the strategic plan is not only a capturing of what we've done so far but to show how the confluence of all these things that have happened the far-reaching set of things that now can be approached really for the first time and the compelling reasons why we want to go there because of the applications this could have for medical care.