OmicsXchange episode 18: precision health and genomics — an interview with Eric Green

22 Jul 2022

On episode 18 of the GA4GH OmicsXchange podcast, we speak with Eric Green, Director of the National Human Genome Research Institute (NHGRI), on the Advances in Genome Biology and Technology (AGBT) Precision Health Meeting. Visit agbt.org to register for the Precision Health Meeting, which takes place 8 to 10 September 2022 in San Diego, USA.

Angela Page  00:00
Welcome to the OmicsXchange. I’m Angela Page. Today we are joined by Dr. Eric Green, Director of the National Human Genome Research Institute, or NHGRI, at the US National Institutes of Health, NIH. Dr. Green has been involved in genomics since the field began in the late 1980s. His career at NHGRI began in 1994 as a tenure track investigator, and he was a key contributor to the Human Genome Project from its start to its finish. NHGRI, a core funder of the Global Alliance for Genomics and Health is the largest organisation in the world solely dedicated to genomics research. Dr. Green serves on the scientific organising committee of this year’s Advances in Genome Biology and Technology, or AGBT, Precision Health Meeting, which will take place in early September. So welcome, Dr. Green, thank you so much for speaking with us today.

Eric Green  00:55
Oh, thank you. Happy to be here.

Angela Page  00:57
So the goal of the AGBT Precision Health Meeting is to bring together leading genomic researchers, healthcare professionals, and healthcare industry stakeholders to exchange ideas that will help usher in a new era of genomic medicine and precision health. What are some things that you expect to see in this “new era”?

Eric Green  01:14
To really appreciate the advances in genome biology and technology, it probably is worth spending a couple minutes reminding everyone about the history of these AGBT meetings, because it very much sort of almost celebrates the importance of having a meeting dedicated to “precision health research.” AGBT has historically had what they now call the main meeting. This began over two decades ago, right about the time that next generation DNA sequencing technologies came on the scene. It basically became the technology meeting for genomics, which made it very exciting for a number of years and continues to be very exciting. What happened was that there was too much to stuff into one meeting. We were either giving short shrift to the technology advances, or we were giving short shrift to the cutting edge applications of genomics to medicine and making everybody unhappy. And so we recognized that we were at a critical juncture.  And so we spun out a new AGBT meeting, which also came at about the time where there was growing and accelerated interest in precision medicine research, because of the U.S.’s launching of the All of Us Research Program . And of course, that was coming on the heels of some pretty impressive advances in genomic medicine implementation, much of which my institute, the National Human Genome Research Institute, supported. So with that as a backdrop, that is why I can tell you that the precision health meeting, the decision was made, rather than calling it a precision medicine or a genomic medicine meeting, to call it a precision health meeting. Of course it covers the full gamut of genomic medicine, precision medicine, and precision health. And its real goal is to, on an annual basis, showcase the cutting edge aspects of how genomics is being used in the practice of medicine, in the implementation of genomic medicine, and in the realisation of precision health. And we keep it fairly broad, all of those fronts are quite new, and changing almost on an annual basis. And we really want to have it be a very open and welcoming meeting, to get a variety of different perspectives. Almost every country is different; every country needs its own story to be told. And so that sort of helps think about this new era. This is all of course, taken at a time when things going on in the UK, in particular, are just surging ahead in impressive ways, both on the research front and the clinical computation front. It’s coming at a time when the All of Us Research Program is no longer an infant. In fact, it’s barely a toddler at this point. It’s almost a small child, if you will. And of course, it’s at a time where we really are seeing genomic medicine come into focus in a way that is very exciting on some fronts and very challenging on other fronts. And so this gives an opportunity to once a year gather and have all of these things be presented and discussed.

Angela Page  04:19
Well, that’s a great segue into my next question, which is, what are some of the pressing challenges that are facing the genomics community right now, and in particular the healthcare sector as it moves into more genomics in the clinical space?

Eric Green  04:31
Yeah, there are so many pressing challenges, which is why this remains an incredibly active and stimulating area of research. You know, I think it may be in a very simple way we can divide it into two categories of challenges, although there’s probably even more than that. I mean, one side of challenges just relates to the science itself, demonstrating how to use genomic information to improve the practice of medicine and to help manage people’s health. Of course, the other set of challenges is just the reality of medicine. And here, there’s just not a country that has it perfect. Every system of medicine has its advantages and disadvantages. And so it’s interesting, because what I have come to appreciate, especially in recent years — I think this meeting, this annual AGBT meeting, helps to showcase it — is that we sort of are all on the same page in the set of challenges, when it relates to the science and the clinical research that’s been done. And then when we actually go to implement it, we realise that every one of us is in a different environment, we’re in a different country, we’re in a different health care system. There’s a reason why England is surging ahead and implementing some of these things because they have a system that simply is more amenable to implement things. And there’s a reason why the United States is lagging in some of these areas, because we’re just such a complicated patchwork of healthcare delivery systems that it’s just hard to make significant progress on multiple fronts. And those are just two countries. And what we have seen play out is, you know, different countries, how do they pay for these things? How do they regulate things? What’s the body of evidence they need before they’ll even consider such things? What is their education of their health care professionals like? How did you sort of get in there and have an ability to influence the practice of medicine? And of course, there’s a whole host of issues we can be talking about with respect to human diversity, and the different challenges that raises for being able to use genomic information, understand it, and use it productively. And some countries like the United States have much more heterogeneous populations. And so that brings up a bunch of challenges that maybe more homogeneous countries don’t have as much. So it’s just, you keep peeling back these levels of complexity. Us scientists types, you know, we know how to do the science, but I figured out all of a sudden, we find ourselves like strangers in a strange land of trying to deal with the incredibly complicated ecosystem of healthcare delivery, not only in the country we understand wherever we live. But then, of course, there’s all these countries we don’t understand, and trying to understand that and figure out best practices. Now, again, one of the advantages of a meeting like the Precision Health meetings, it provides a venue for like minded people facing, in some cases, similar challenges, some cases, different challenges, to get together, compare notes, strategize, discuss, appreciate, learn, etc, etc. And you know, and we’ve seen that. And so I think that’s been really an important aspect of the meeting.

Angela Page  07:31
I think we see, you know, across the board in GA4GH, that the hardest piece of this is the culture shift that needs to sort of happen. And when you’re talking about many, many different cultures, trying to get to the same place, that culture shift is even more complicated. You mentioned a couple of times that AGBT Precision Health is an international meeting. So can you sort of expand on that, like, what does that look like? And why is it an important characteristic of the event?

Eric Green  07:58
Yeah, so I strongly believe that the international dimension is important because . It helps foreshadow what others are going to have to deal with when they get over their next hurdle, just around the corner, you know, there might be a hurdle they hadn’t even anticipated. And so that ability to share these experiences, in real time, is proving to be extremely valuable. But I also want to emphasise that one of the things that Precision Health Meeting attempts to do every year is just making sure we are showcasing some of the advances in these population scale cohort studies, you know whether it’s the UK Biobank or, you know, Genomics England, or whether it’s, you know, the All of Us Research Program, or things going on in multiple other countries — some of which are a little more clinically oriented than others, but all of which are incredibly useful. And I certainly know that GA4GH sophisticated audiences fully appreciate the value of all the data coming out of those programs and the incredible importance it is to be able to figure out ways to be able to either share that data, or at least be able to take advantage of the analysis of those data — to build on the experiences in any one program or any one project and be able to have the other program and projects be able to validate or extend or build or provide more statistical power, etc, etc.

Angela Page  09:26
So what are some of the key highlights of past AGBT Precision Health meetings — you know, some of your favourite moments in past meetings?

Eric Green  09:34
One of the things we’ve tried to do every year is to mix in other perspectives, including patient perspectives. We’ve had multiple times where we have brought patients and either, you know, in some cases, those who where genomics has had a major effect on their life, or those we’re hoping to have genomics have a major effect on their life. And so just, you know, helping remind us why we’re doing what we’re doing. And so I do think we’ve taken a really valuable perspective and brought it front and centre at the meeting. Another thing I think we’ve done in years past is we have deliberately stimulated debate by having panels where, you know, I think we can call them like the great debates or something, we bring in a topic, where we know is going to have a flashpoint of disagreement among reasonable people. We’ve also done in years past mock clinical discussions, you know, like tumour boards or genomic analyses discussions.  We try to show to the audience what this is really like at a given hospital or at a given medical centre, when they really are trying to talk through a case and do a series of cases, and hear the experts go around across the table,, to really highlight the thinking and the analytical processes involved in what is often grey. I mean, that’s the most important thing about genomic medicine right now is so much of the genomic information remains grey, and you’re just trying to make your best guess as to what may or may not be going on. And then of course, we’ve just taken advantage of big highlights. I could think about some of the newborn sequencing experiences, especially acutely ill newborns, that’s actually something we’ll be featuring at this year’s meeting as well. And really highlighting the success story of, can we sequence very rapidly an acutely ill newborn’s genome, and in any way influence their medical management? The definitive answer is yes, not always. But in many cases, you can get it done in a short period of time, etc, etc. So those are just remarkably exciting to hear about. 

Angela Page  11:29
What are some anticipated highlights of the upcoming meeting in September?

Eric Green  11:33
I certainly think we have put together a program that you know, once again, offers a little bit of this, a little bit of that. I know one of your earlier podcasts was Karen Miga. And she’s like our leadoff speaker for the whole meeting, and what a year it is for her to describe the efforts of she and her consortium and her colleagues involved in the Telomere-to-Telomere Consortium. They’ve had, you know, a remarkable success story this year — and, you know, many ways is maybe more on the basic side of genomics, but it undergirds everything that’s going on, in precision medicine, precision health, genomic medicine, etc, etc. So hearing from her will be wonderful. And then we have a major NIH leader who’s also speaking in that opening session, Diana Bianchi, a colleague of mine, who runs one of the other NIH Institutes, the Child Health Institute. Diana herself is a world expert on the use of noninvasive genomic testing for, as a means for prenatal screening, but also the utility of that for other health indicators. And we bring in an international perspective, and people like Sharon Terry, who’s now involved in an effort for improving access to rare disease diagnostics around the world and a new effort she’s involved in. She’ll be speaking. We’re just getting a sampling of other other speakers that that are, again, both from the United States and from elsewhere, who are going to, you know, help tell us what’s been happening, especially over the last few years, when many things were slow down because the pandemic, but now are, are reaching, getting back in their momentum. And, you know, hearing what’s going on with the Undiagnosed Diseases Network, and people like Euan Ashley will be speaking and giving an update of that, and some of the things even outside of that network that he’s involved with, a lot of things happening in California, with respect to the use of genome sequencing as part of, hopefully, routine medical care. So again, I think it will be another good smorgasbord. And we’ll be hearing a bunch of really interesting and important developments.

Angela Page  13:39
Well, that all sounds really fabulous and exciting. And I’m so glad that you came to talk to us about it today. Is there anything else you want to leave listeners on or anything else you want to say?

Eric Green  13:49
I think what I would say is that, you know, we really have been talking about the AGBT Precision Health Meeting as the focus of this conversation. But this, of course, is being done as part of a podcast series that GA4GH sponsors, and it makes a lot of sense. The connectivity is fairly obvious, because so much of what GA4GH is trying to do is to catalyse and facilitate the kinds of research that’s being showcased at AGBT Precision Health. And without the efforts of GA4GH, I’m quite certain we wouldn’t see the kind of progress that has been made. So I think it’s wonderful for the community of individuals who are involved, either heavily or even remotely in GA4GH’s efforts, it’s good for them to be aware of the AGBT meeting because they get to see the fruits of their efforts every year at our meeting.

Angela Page  14:41
Thank you so much for saying that and it’s a great point to end on. Thank you so much for being here Dr. Green; this was fabulous.

Eric Green  14:47
Nice chatting with you, thanks.

Angela Page 14:43
Thank you for listening to the OmicsXchange, a podcast of the Global Alliance for Genomics and Health. The OmicsXchange is produced by Connor Graham, Stephanie Li, and Julia Ostmann, edited by Biljana Gaic, with music created by Rishi Nag. GA4GH is the international standards organisation for genomics, aimed at accelerating human health through data sharing. I’m Angela Page, and this is the OmicsXchange.

Visit agbt.org to register for the Precision Health Meeting, which takes place 8–10 September, 2022 in San Diego, USA.