How do budget cuts impact genetic medicine?

Hey, hey, DNA. Kate Wilson here with another episode of All Access DNA.

In today's episode, we are talking to Dr. Eric Green, he, him, the former director of the National Human Genome Research Institute, NHGRI, at the U.S. National Institutes of Health. For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles at the Human Genome Project, groundbreaking work on mapping, sequencing, and comparing mammalian genomes, and key discoveries about the genes involved in several rare genetic diseases.

We talk about the All of Us research program and advancements made in genomic medicine. Dr. Green discusses the current challenges facing the NIH and the field of genomics, particularly in terms of defunding and budget cuts, as well as the potential loss of innovation. Let's get started. Music.

Eric, thank you so much for being on the show, and I'm so honored that you agreed to talk with me today. Well, it's a pleasure to be here. Tell us more about the National Human Genome Research Institute, or NHGRI. What is it, and how does it relate to the National Institutes of Health or the NIH. Yeah. So the National Institutes of Health in the United States is the largest funder of biomedical research worldwide. It is well-regarded, really, around the world for its remarkable leadership

over many decades. It consists of 27 institutes and centers. Some of them are called institutes, some of them are called centers, but it's the National Institutes of Health. And the institute that I was at for over 30 years was the National Human Genome Research Institute, or NHGRI. It has an interesting history in that it was created in the late 1980s, just in time, to lead the NIH's and the United States' effort in the Human Genome Project.

So we were created by the U.S. Congress originally for one explicit reason, to lead the U.S.'s effort in the Human Genome Project. And, of course, the Genome Project involved many funders in many countries. But at the NIH, which really was the big leader for the Human Genome Project, it was our institute, NHGRI, that was created.

And, you know, the Genome Project ended 22 years ago, and the Institute has considerably morphed since then, as you might imagine, going from a laser-focused goals of the Human Genome Project to then thinking about all the things that needed to be done with the Genome Project completed.

That has most recently taken us into medical applications of genomics, which makes a lot of sense because that's the reason why the National Institutes of Health got involved in the Genome Project because of the potential that always was seen by having unique genomic information about individual patients to help guide their clinical management.

Right, right. So it's taking the genetic information, mapping out the human genome, with the hope that one day we will be able to create treatments and medicine that are tailored to people in their specific genetic makeup or their diseases-specific. Yeah, that's on the treatment side, but even upstream of that, being better at diagnosing disease based on genomic information you get about each patient, managing, picking the best medications based on people's genetic makeup, and so on.

And so it's also about prevention, using some information to prevent disease, to diagnose disease, to manage disease, to treat disease. Gotcha. So kind of all along the continuum, I would say, of disease care. What were some of your roles at the NHGRI while you were there, since you said you were there for over 30 years? Yeah, about 31 years. Well, I first got there, I was a young physician scientist.

I had been trained as a pathologist, but I was working on the Human Genome Project, and I ended up getting recruited to—it was at a stage where the Institute was adding government-based scientists that would work for the Institute doing research in addition to the funding that they provided to non-government scientists doing the Human Genome Project.

I was working on the Human Genome Project, but I was one of a series of investigators who got recruited to become government-based genomics researchers. So, you know, I got there. I was a tenure-track investigator at NIH. They even have tenure. I got tenured. And then, starting in about 1997, you know, I was there for about, you know, three, four years. I started assuming leadership roles. I first started, founded, and started a genome sequencing center to do high-throughput DNA sequencing.

I then became sort of what's called a branch chief, which is like a little mini-cluster of investigators, part of the leadership team. And then by about 2002, I became the director of the on-campus program. It's sometimes called the intramural research program, the government-based research program for the institute. That's like being a department chair. So I was basically the department chair for a number of years. We had about 30-something investigators, about 500 people.

I mean, it was a good-sized department doing a lot of really wonderful genetics and genomics research. And then when President Obama got elected, he selected as his NIH director the previous director of NHGRI, which was Francis Collins for many years. So Francis became the NIH director, left a vacancy at our institute for the director. I applied to become the director, and I was selected. And so then I served as the director from 2009 until March of this year.

Right, right. Right. So what kind of research initiatives was the NHGRI supporting or were you supporting specifically at your time there? Yeah. So, you know, when I got there, you know, you mentioned, yeah, you mentioned the Human Genome Research Project, but let's talk about everything since the genome project. And I'm going to focus, I'm going to focus on our external funding. You know, 75% of the money goes to the extramural world, the external world.

I'll focus on that because that is really where the bulk of the funds go. And I think it's really interesting if you sort of think about, obviously it was a genome project, but that was ended 22 years ago. So since then, we've basically constantly asked the question, what are the barriers? What are the limitations? What are the approaches that need to be researched and developed to allow eventually the use of genomics to be used as part of medicine?

And it's a journey of multiple, multiple steps. And some of them are very technological. Some of them are very computational. Some of them are very biological and experimental. And then you start to get into translational research, and then eventually you deal with clinical research in patients. So if you look over the last 22 years, there was a series of, let me just tick off a few of them. The first one, which was probably the most significant in terms of accomplishment,

was our institute-led programs. We funded research to develop all new ways of sequencing DNA. Now, why was that necessary? Well, when the Genome Project ended, it had sequenced the first human genome. So I'd read out the roughly 3 billion letters in the human genome for the very first time. But it was a big deal to do it for the very first time, and it cost something like a billion dollars. Now, it was a brilliant use of billion dollars because it's changed everything.

But that is not the kind of price tag that could be associated with a clinical test. And our vision, my vision as a physician scientist was always that sequencing a genome, whether it be your genome, my genome, one of our patients' genomes, that needed to be a clinical test.

That needed to be much cheaper than a billion dollars. So literally, in 2003, when the Genome Project ended, our institute called for efforts to develop new technologies to get the cost of sequencing a human genome down to less than $1,000. And in fact, the phrase, the $1,000 genome, became a battle cry for the community. And, you know, I'll just leave out all the details and just say the rest is history. A lot of grants went out. A lot of great science was done. The private sector

got involved. A lot of venture capital money came in. Companies sprouted up. And, you know, about four or five years ago, we crossed the threshold. We went from a billion dollars to less than a thousand dollars, more than a million-fold reduction in the cost of sequencing a human genome. That's incredible. That's just one thing we did. Well, what else did we do? Well, we worked hard at interpreting the human genome sequence.

You know, the Genome Project just laid out the letters. It didn't lay out an interpretation. That was going to take decades more. So we've funded a number of initiatives and continue to, to figure out how does the human genome actually work? Where are all the functional sequences? Where are all the genes? How are the genes turned on? What parts of DNA gets made into RNA? What do those RNA molecules do? Blah, blah, blah.

It's like a constant interpretive process that will go on probably for several generations. And we start asking questions about how do we vary? You know, we had one human genome, then we had two, and then we had three. Well, now we have millions. So now we know what parts of our DNA are spelled differently among people. And how does that influence how our genome works?

Oh, and once we start getting that going, you can start to say, wait a second, when do spelling differences somehow influence health, either by giving a greater risk for a disease or overtly causing a disease? And so the whole realm of understanding the genomic basis of human disease has come to the fore in a very significant way. That's been particularly productive for those diseases that are caused by mutations in a single gene. But the bulk of human health traits are not due to a single gene.

It's more complicated than that. There we've made progress, but lots more progress to be made. So you can sort of see I'm marching across the continuum. All along the way, there's lots of bioinformatics, computational biology, data science, big data. All those things are layered on top.

But the most recent foray, in particular over the last five to seven years, has been beginning to do research to ask questions about how can we use genomic information about individual patients to improve the practice of medicine. And that was always a pipe dream. Even, you know, 22 years ago, it was like, oh, wow, how are we ever going to get there? even 15 years ago, it was like, wow, you know, that seems so far off. But you know, the past five, six, seven years, real examples have emerged.

And we call this genomic medicine, or I tend to call it genomic medicine, using genomic information of a patient as part of their clinical care. It's here and now. Earliest examples, a lot more coming, but we have exemplars of where we are changing the practice of medicine. We are improving patient care. In some cases, we're saving patients' lives.

Yeah. When I started roughly right around the time the human genome was completed, as it was at the time, it was like, okay, at some point we'll have, you know, some specific treatments, you know, and I never thought I would actually see, I think about like the therapeutic treatment we now have for SMA. So for spinal muscular atrophy and some of these types of things. Which is where we always wanted to go.

So you talk about kind of what how it's evolved and how the work that NHGRI continues to build over kind of the previous work.

Can you tell me a little bit about the All of Us research program? Because I know that was one of the newer, newer-ish initiatives. Yes, and I should, but I should preface it by saying that's not an NHGRI-specific program. We're just, we've been instrumental in its conceptualization and we're big, big collaborators and big cheerleaders for it.

It is a very relevant question because one of the things that started to get asked by research programs that we funded at NHGRI, actually dating back almost like 15 years ago or 13 or 14 years ago, was we started to ask the question, if you have genomic data on individual patients and you also have health record data from those patients with the emergence of electronic health records everywhere in the You ask.

Can you use those data together to learn things about the patients, to learn things about clinical care, to learn things about disease, to learn things about medication use, et cetera, et cetera. We actually built a consortium called Emerge for electronic medical records and genomics. And that has been going ever since for multiple, multiple years.

And it revealed a tremendous amount of excitement around the idea of there's so much rich information, electronic health records that weren't collected necessarily for research, but can be used for research, and be able to analyze that in conjunction with genomic data really becomes not only a test bed for discovery, but a testing ground for implementing genomic medicine.

And so this has been so successful, and other efforts around the world started to sprout up around this idea, including other countries like the United Kingdom, where they created this thing called the UK Biobank. They got a half a million people. They got their genome sequences. They got a lot of their electronic medical record they had collected and so on and so forth and proved that you could learn a lot.

So this is why it was actually President Obama, again, who launched what was initially called the Precision Health Initiative, the Precision Medicine Initiative, PMI, but later morphed into what became NIH's All of Us Research Program. And what the All of Us Research Program is very much resembles what we did in Emerge, but on a much larger scale.

It is in the process of getting volunteers in America, about a million they hope to get at a minimum, maybe more eventually, and having them consent to give their blood and other biospecimens, get their genome sequence. Share their electronic medical record data, and have all that data available to scientists really around the world to analyze. Because.

There's so much data in both the genomic material that's being the data that's being generated, but also so much data available, people's electronic health records. And in addition, they're asking some of these people to wear electronic sensors, you know, little health monitoring devices or surveys, a whole bunch of other information.

And it just becomes this incredibly rich, multi-dimensional data set that we think can really be very useful for many scientists to be able to analyze in creative ways. And one could certainly immediately imagine, everybody always talks about AI these days and all these incredible machine learning and complicated computational tools. You know, this is like made in heaven, right? Because you have this massive amount of data that the human brain can barely get their head around.

That's the kind of thing to start developing very creative AI and other data science tools to analyze in ways that we've had trouble conceptualizing. And they're just made for each other.

Well, and what I think about it, too, with things like All of Us, is it's a way to break down a lot of the silos because in healthcare or I used to work for like a diagnostic lab, there are these types of silos where it's hard to pull in all these different lines of data and then try to figure out how do they relate to each other. Exactly. You know, and the good news is, you know, we're doing all of us. The UK has theirs, multiple other countries.

There's a lot of value of having sort of those international. You know, different international groups, different populations, different approaches, and hopefully sharing data as much as possible. Well, and I was going to say, I wonder if you can share or kind of give your thoughts too. Why is it needed that, and it's again, not just the US and like NIH, but you mentioned like UK Biobank, other countries.

Why is it needed to put forth sort of a government-led effort or to have some government support of these types of initiative? Why can't just private companies do this? Well, it's not that private companies aren't doing this. In fact, from the very beginning of genomics, there's always been private companies that have cropped up and have attempted to do it. And certainly that happened during the genome project. It's happened multiple times after the genome project.

There are absolutely companies that are doing exactly that, but they're not sharing the data or they're limited in how they're sharing the data. I think the reason we want as many people around the world, I mean. You know, using this data and making discoveries and whether that's a high schooler, you know, in a high school science fair or whether that is a scientist at a university that may be.

They could do good data science, but they don't have very good laboratories, but they want to be scientists. They can get into the very active research mode by analyzing this data. And we maximize the value of that data by sharing it. And the only way that data is going to get shareable is if the government's funded.

I mean, companies, you know, they've got to deal with their own rationale for investing the money, and they're going to want to make it proprietary and be able to try to develop a business around it. You know, it's the exact reason why the Genome Project was so important that it was done in the public sector. All the data was shared.

Similarly, all the efforts, you know, since the end of the Genome Project funded by NHGRI or any of the other genomics funders around the world, those are all about open data sharing. Everybody benefits when that happens. Private sector is going to do their thing. They always will. But they also, you know, they also benefit from the public data. They always get to combine their own private data with the public data. And if they make discoveries, that's great.

I mean, they pay taxes and, you know, and they help contribute in that way. But we always have to recognize we want to have as big a tent as possible. And the biggest tent is achieved by having broad data sharing for everybody anywhere. Right. Right. And you talked about like with the human genome, there were private companies working on it, but it was kind of at times a very collaborative effort between kind of federally funded.

Sometimes it was, but again, it always is that the public efforts are always going to be the ones where, Always have the most altruistic, the broadest data sharing and the things that in the long term, they don't have to be accountable to investors, shareholders, stock shareholders and so forth.

I was going to say, I think that's also where I think about it again, having that diagnostic commercial lab background is if I went to, you know, I was trying to build out something that may not be completed for decades, that's going to be a little bit more challenging to kind of to sell to shareholders and things.

So one of the questions I wanted to ask you is, why does this genomics research, I guess, take so long, right? Because one of the common questions I get asked, and I'm sure you do as well, is, all right, we have the human genome mapped. Why can't we solve cancer? So, well, solve cancer is a high order. I mean, I guess there's so many answers I could give. I know. The first thing is, it's really complicated. I mean, this is complicated stuff.

I mean, if you just conceptualize the human genome is 3 billion building blocks of four different types of building blocks, we abbreviated AGT and C, but 3 billion of them. And in there, there's a code encoded in the sequence of those building blocks. And that code has everything necessary for creating and operating a human being. I mean, you just know that's really complicated stuff.

OK, so so it just under just first of all, it was a Herculean effort just to lay out the three billion letters and then we have to interpret them and then we have to figure out which ones are spelled differently among people. And then we need to know how that correlates to health and disease. And then we need to do something about it. So the bottom line is this is hard. And I actually would contend it's spectacular that we are making as much progress as we have.

By the way, I will point out, I mean, and I also think and this has come up multiple times. In the history of genomics, there's people talking around and saying, wow, we thought it was going to be overnight. And I always remind people, like, if you look at, for example, the fundamental scientific discovery that gave us insights about cholesterol, from the time that was discovered until we had cholesterol-lowering medications, was like 40 years or 30 or 50.

I mean, it was measured in many, many decades, not just one decade or two or three. That is the typical trajectory from basic science, which I think Human Genome Project was basic science, until you actually start changing anything medically. And so the fact that, you know, we're only 22 years out and we're saving lives in the case of acutely ill newborns, where we can sequence very ill newborns' genomes in less than 24 hours and sometimes save their lives, and that's incredible.

The fact that we can now diagnose rare genetic diseases much more efficiently than we ever could before for less than, you know, $1,000, that's pretty remarkable.

The fact that we now regularly will screen prenatally using a brand new non-invasive test that you can, with simple blood draw, get information about whether that unborn child, a blood draw of a pregnant individual, and you learn about that unborn baby in a way that never was possible before without a more invasive procedure like amniocentesis, that's incredible. It's actually the number one genomic test of the world today. About 8 million pregnant individuals will get it.

So, you know, glass half full, glass half empty. I think the glass is more than half full. I mean, I think now maybe it's not half full. I would actually say it's only probably, you know, 5% or 10% full because I think there's so much more coming. But you have to be patient. And, you know, this may lead to some other question you're going to ask me. The other thing we must do is keep our foot on the accelerator. When things are getting exciting in science, you don't pull up on the accelerator.

You don't stop putting gas in your fuel tank. You got to keep it going. And some of the things happening, at least in the United States today, with respect to science. Is absolutely the equivalent of pulling your foot off the accelerator at the very moment when it'd be so exciting to be able to push it to the floor because we could make these discoveries even faster. But we may get to that. But let's just say, I think we've made incredible progress in the last 22 years.

I will tell you that genomicists, like myself, tend to be extremely exuberant and optimistic people. And maybe sometimes we get misconstrued and people think that everything's going to be answered in a matter of two or three years when it really is not. It's going to be two or three generations. I just think we're very proud. And so we're very positive. But don't think for a minute that any of this is easy. It is a slow, systematic journey. But boy, we have a lot to be proud of.

Oh, definitely. And I think that was key, systematic, right? There's a way we're kind of having to evaluate these things. And, you know, it's, I think people who work in genomics, I mean, who work in research in general, tend to have more long-term ways of seeing things. And so they understand. So that's also why they get so excited about as we get closer and closer, because they know long-term where we're trying to go.

And I think about, you mentioned like the non-invasive prenatal testing or the cell-free DNA. I mean, I never thought we would then be able to take things that come into prenatally. We're now able to use similar technology, methodology, and we're trying to find like cancer before it starts or cancer right as it's starting. So that's the thing is each of these discoveries or developments can lead to like tens of hundreds or thousands of other applications down the road.

Right. You know, your original question even say, you know, how come we haven't, you know, solved cancer? I mean, the truth of the matter is genomics has been revolutionary in its impact on certain types of cancer and certain approaches. Cancer, of course, is not just one disease. It's many diseases. It's very complicated. It's very heterogeneous. And there's a lot of stuff that genomics hasn't been contributory to, but there's a lot of research going on.

I actually think it's miraculous some of the things we do now in cancer genomics compared to what we were doing 10 years ago.

Oh, definitely. Definitely. And you mentioned the analogy, I like that, of putting your foot on the accelerator and kind of what's going on currently in the U.S. With some of the federal funding and the cuts. So for those that aren't aware, I am going to put some additional information in the show notes. But there's the current administration has really, really reduced funding, I would say, not just for NHGRI, but for NIH overall.

So how do you see these reductions in funding affecting these programs? Yeah, so to be clear and to be transparent, so I was let go from the NIH in my leadership position in March. There was a decision of the new administration to remove some directors. In my case, I just wasn't reappointed. I was up for my next five-year term, and I was not reappointed, so I retired from federal service.

But following me, five other institute directors were taken out of their jobs and are no longer in their leadership positions. So there is a bit of, shall we say, some rigorous things happening to NIH that includes elimination of staff and cancellation of grants. I mean, there's a whole lot of things. The NIH has lost about 2,000 employees for various reasons, and it does feel a little bit like we're being hit by a wrecking ball. And it's very sad for me to see all of that.

And then there is a proposal by the current administration, we'll see what the Congress really does with the proposal, to substantially reduce the budget at NIH, maybe as much as 40% next year, which would be catastrophic. I mean, nothing short of catastrophic. So, at a time where biomedical research is unbelievably exciting and genomics in particular has such potential to really improve the practice of medicine.

We should be pushing on this accelerator. We should be doubling the size of our fuel tank. We should be recruiting the best and the brightest, actually from around the world, not just in the U.S., to join us in this incredible journey of improving the human condition. And yet, what we are seeing is just the opposite, where we are hindering the ability to bring the best and the brightest to the United States. We are not being supportive of many of the important things going on at NIH.

We're getting rid of staff, we're getting rid of functionality, we're re-engineering the NIH in a way that I think will not be a positive. And we are, you know, threatening a major reduction in budget that, like I said, I think would be catastrophic. We risk not only slowing down ongoing projects, ongoing discoveries, ongoing advances, but we also risk scaring young people away from going into science.

We might lose an entire generation and we will see the incredible successes of genomics, that the United States has been able to be a key part of the majority. Not all there's great genomics going on around the world, but the U.S. Has been the leader, and we might be giving that away over the next few years if we don't improve the situation with what's happening at NIH and its potential funding in the next couple of years. Yeah, and that's what I was going to ask is because the U.S.

Has been such a leader in development and innovation, And I think for me, that's where I have trouble kind of putting these two pieces together is that I feel like a lot of folk in the administration as well as the general public want us to continue to innovate. They want people to be healthier. They want people to live longer, but we're decimating a key group that can help us do that.

Right. And, you know, some of this is tied into politics. Some of it's tied into post-pandemic and finger-pointing and this, that. I mean, there's a lot of disagreement about it. I say there's a lot of threads to pull. A lot of threads. And, you know, by the way, of course, the NIH is not unique. I mean, all of the federal government is under assault. All the federal government's being downsized. All the federal government's being re-engineered.

And, you know, other advocates for other parts of the government will need to speak for themselves. All I can tell you is I have seen over the last 30 years in my time at NIH, truly spectacular advances by an incredible organization filled with tens of thousands of very dedicated people. And I think we could have seen a continuation of advances on a regular basis. And we are pulling, you know, we not only are just pulling our foot up on the

accelerator, we're starting to stick our other foot on the brake and it's going to be tragic. Yeah. I was like, and then I'm worried we're going to put it into reverse at some point as my concern. It's very worthwhile or stall out because we lose a generation of young scientists 10 years from now. Who's going to be taking over a lot of the responsibilities as various of us step off the professional stage?

Are there any specific projects that come to mind under the NHGRI that you see at risk or have seen being retired? Yeah, I mean, the big assault on across all the NIH, including ours, are anything that touches diversity, equity, or inclusion or DEI. There's just wholesale counseling. So, you know, and, you know, reasonable people could disagree about the best approaches for doing these things. Let me just point out a couple of things that I get passionate about.

You know, I got involved in genomics from the beginning as a physician scientist because I saw the potential that genomics could have to improve the practice of medicine. I have subsequently seen, as with all scientific innovations, when they start to be applied clinically, they get applied at, you know, first-rate medical institutions, great medical schools. You know, great clinics, great places where, you know, that are well-funded and have the ability to deliver innovative things.

We desperately want to make sure that we avoid what too often happens in these situations where only the rich benefit, only the well-to-do benefit. We want to make sure there is equity in how genomics benefits society. We don't want to exacerbate health disparities. There are many things that need to be done to accomplish an equitable application of genomics in medicine, but they start dancing around things that to some people are perceived as diversity, equity, and inclusion.

And if you take that as a bad thing, well, then they push back and say we shouldn't be doing DI. I actually think making a statement like we want to build trust in all communities so that they will embrace genomics and use it, we want to figure out how to bring genomic medicine to underserved populations, to different parts of the country, to different healthcare settings, maybe that don't have all the resources that other places have.

And in order to do that, we must have a targeted research approach that studies the barriers. Some of those barriers relate to diversity and equity. And we had great research programs marching forward to do that. And a lot of those have gotten canceled or continue to get canceled. So there's a perfect example. I also think, you know, another, so that relates to sort of a lot of aspects of the research to understand barrier, blah, blah, blah. A subset of those challenges relate to the workforce.

As you well know, genomics carries with it the legacy of human genetics, and human genetics isn't totally perfect. There's been missteps in human genetics, especially related to eugenics and especially related to some communities, especially communities of color and who are distrustful of science for other reasons that are totally legitimate.

So one of the things I've always felt that we need to do in genomic medicine implementation is to start to build a workforce of scientists, physicians, pharmacists, nurses, physicians, assistants, et cetera, et cetera, that as we go into these communities to do research and eventually to implement, it would sure help if those professionals resemble the communities we're going into. If everybody looks like me, there might be that continuation of distrust.

We need some of the workforce trying to implement genomic medicine to reflect the community. It's all about community engagement and a reflection of the community. So we were trying to do that and trying to have a more diverse genomics workforce, and all of those programs have been halted in the new administration. It was a priority for the previous administration, and it's considered taboo in the current administration.

Yeah. And it's interesting, too, that you mentioned like the health care disparities. And I think having worked in health care for so long, thinking about things in terms of DEI, health care disparities, it was just part and parcel of what you did is you had to make, you know, you wanted to make sure that that people were getting the same access. And I think of the story, I had two relatives who were going through cancer treatment at the same time.

One had the means to be able to travel, go to large academic, world-renowned cancer centers. The other one was a rural hospital. And the things that they were offered were vastly different. And it just was because of where they happened to live. And it's just like stuff like that, we can't get around it without saying, hey, we need to highlight some of these inequities. And why is this happening? And we need to study them. We need to understand them and we need to address them.

And so to me, that's some of the things that are being halted are really, I think, disappointing because I think we're all in a much more societally acceptable trajectory. And do you think that there's going to be, or what do you think? I mean, we've talked about that. I think we both are suspicious that things are going to be, unfortunately, halted or potentially go in opposite directions.

But what are some of the things that you foresee happening in terms of, like, breakthroughs or innovations? Do you see, what kind of things do you think are on the horizon that we might see reductions in? Well, yes. What I would say is I'm very excited about a lot of things going on in genomics.

To be honest with you, I'm finding with the crisis we have here in the U.S., my eyes start to go across the oceans because smart countries like the United Kingdom are not letting their foot up on the accelerator. They're pushing hard. And many of them are hiring a lot of the scientists now from the U.S. Absolutely. All types of scientists are going to be recruited elsewhere. So I'm very excited about a lot of things going on in genomics.

First of all, I think there'll be home runs in cancer on a monthly basis. So I mean, cancer genetics will just constantly, it'll be incredibly fruitful, a lot of exciting things going on there. Another area that I often put on my watch list, I've been calling it now my watch list because I'm so impressed with how many studies are going on.

Well, it's a complicated topic, but I think it's worth, you know, it probably will be slowed down here in the U.S., but the good news is there's some really good stuff going on in Europe, especially in the U.K. And many other countries, actually, is, you know, I think we all agree that acutely ill newborns should get their genome sequenced if it's a situation where you want to find information and try to save your life.

But there's big questions about whether we should be sequencing the genomes of healthy newborns. I mean, we do some light genetic screening of all healthy newborns in the U.S., most other countries, but we could do so much more if we do genome sequencing. I think there's a lot of momentum building in the U.S. And around the world, all through research right now, that what do we need to do to get to the point where we should be doing genome sequencing of all newborns

as part of their medical care? get that data, put it in the electronic health record, and I would follow them for life. And the reason I'm getting excited about it is one, there's some increasing evidence of its value, but two, there's a lot of big studies now going on around the world. You know, a couple dozen countries are doing studies, the UK in particular, actually they just released some of their earliest data that looks quite promising.

And so I'm very excited about that. I mean, it would be, there's a lot of challenges and a lot of logistical things that have to be worked out. you know, we really need to be careful about disparities, et cetera, et cetera. But, you know, I'm sort of of the attitude, it's not a matter of if we will eventually be sequencing the genomes of all healthy newborns. I think it's a matter of when. And, you know, it may still be 10 or 20 years from now. I don't know.

All I am, I'm very impressed with the studies that are going on that I think will help us decide when the right time is to move forward. Yeah. And that's interesting to, you mentioned like keeping an eye on research projects, you know, internationally, because that's going to continue to, to advance and we'll, we'll kind of see, see how it is over the next few years. Are there any, is there anything that you have concerns about, like for the American public right now?

Like you said, you mentioned cancer. Like, again, I do think. Cancer will continue. There are certain kind of maybe disease states that will still maybe get some support and assistance. But are there other areas where you feel like maybe they might get left behind if they don't have somebody like the NIH or NHGRI helping? Yeah, well, I mean, there is this whole world of, you know, more common diseases that are genetically complicated. It's not caused by a single gene.

It's a big contribution of the environment coupled with that. And, you know, actually it links back to something we were discussing earlier. When we were discussing the All of Us research program earlier, what I didn't mention is that it's gotten substantial cuts to its budget.

And so to me, one of the other brilliant things that the All of Us program, like the UK Biobank, have the potential to offer us is an ability to look at a much finer level, the genetic contributions and physical and social environment contributions to the more common diseases that really fill healthcare, you know, or the healthcare burdens worldwide in clinics and hospitals around the world. But the bottom is falling out of the All of Us program in terms of its budget.

And so it will be slowed down. And I think similarly, a general cut to the NIH budget will slow down progress on what's really needed, which is gaining more and more insight. And yet this is coming at a time where the administration and the secretary of the Department of Health and Human Services talk a lot about chronic diseases, and chronic diseases involve multiple genes and bigger contributions of the social and physical environment.

You know, you can't say that's a priority, but let up on the accelerator that funds research to study chronic diseases. So there's a disconnect here between the rhetoric and the reality. Yeah, and I think I constantly am kind of wrestling with, I'm like, I don't understand if this is the focus or the concern.

Why are we doing X, Y, or Z over here? Why do you think, and you've definitely had a much longer career than I have, why do you think there is this mistrust in general of like evidence-based science?

And is it something that's always been there and we're just hearing about it more? Or do you feel like you're seeing this mistrust more and more over the last few years? So, I mean, I think there's experts, there are academic experts who are studying this as for their career. So I think the whole arena of scientific misinformation is clearly a growing pervasive problem. It's always been there to some extent.

There's no question it was made worse by the pandemic, which politicized so many aspects of how we and others around the world responded to the pandemic. There is no question it's exacerbated by social media and the ability to reach lots of people. There's no question it's exacerbated by the lack of local press. I mean, the whole world of journalism has changed so substantially. I mean, I've read articles about how, you know, there's like, you know, small town newspapers have gone away.

A small, you know, a lot of even mid-city newspapers and journalists have gone away. They can't afford to do it. And what that means is people become more vulnerable to things that they can readily access, which is like social media. And then there's just a lot of nefarious players out there pumping lots of false information around. And it's a problem. And, you know, it's a problem holistically around science and medicine.

And I think about how genomics is just finding its way into medicine such that, you know, sort of like vaccinations, genomics is going to have to be spoken regularly between patients and their healthcare providers. And if people are. Not properly literate in genomics, or if they have misinformation about genomics, it will hold back genomic medicine implementation. And so, yes, I care deeply about distrust.

I care deeply about scientific misinformation. And I do it all through a lens of genomics, where I see how vitally important it's going to be for everybody to become fundamentally literate in the basics of genomics because it'll be part of the language of what you talk to about when your aunt or your mother or your father or your brother get cancer, or you have a child with a suspected rare genetic disease, or even a pregnant couple,

they'll have to start talking about the non-invasive prenatal genetic screening test. They got to understand the basics and they can't be biased by incorrect information.

Right, exactly. And that's the thing too, I think we're seeing is with genetics is it was sort of this specialty or add-on in these larger academic centers, but there's definitely a push to get more integration with like primary care physicians, primary care clinics, because that's the goal is to be able to utilize that genomic information for better patient care. And it can't be left to the physicians.

You know, the genetic counselors play a big role, but so do the pharmacists and the nurses and the physician assistants. It's always because, you know, this is going to be just coming very fundamental medical advice for prevention and treatment and diagnosis.

Where do you hope that the U.S. is in terms of genomic medicine, genomic health care in 10 to 20 years? Where would you like to see the U.S. be? I want to be the world leader, right? I mean, I'm happy to be tied with a few others, you know, because I feel like if we could truly live up to our potential, as we've done multiple times throughout the history of genomics and science, I know great things will come out. I don't think at the moment we are the leaders in genomic medicine.

Now, some of it is, and I should point out, we will always, as long as our healthcare system is complicated and fragmented and horribly imperfect, we will never be able to implement genomic medicine in the same way a single payer does, such as the case of the UK. And of course, that could bring us to all sorts of questions around healthcare and what works and what doesn't. So I just think we always are going to have multiple different healthcare systems in different countries.

But there's absolutely no reason that some of the most fundamental tools and applications and approaches in genomic medicine the U.S. should be leaders in. And I'm happy to share that spotlight with other countries as well. But I don't think we'll be sharing anything if we don't turn around the current trend of decreased funding and damaging organizational changes to the NIH.

How could people, if they hear this, they're concerned, how can they advocate for federal funding for more support for genomics research? You know, first of all, listen carefully. Listen to what people's positions are and vote and always vote. Second thing is don't be shy about contacting your senator, your congressman. Tell them what you want. Tell them what your priority is. Write to them.

Call them. You know, if you see about, you know, there's going to be rallies or there's going to be forums or things, get out there and speak with your voice. If there's marches and all sorts of things, get involved. Show how important this is. You know, this is all about helping everybody. And it just seems that we should be proud of what we are able to do.

And we should be proud of the fact that the NIH for decades has been that crown jewel in science, seen everywhere as like a beacon around the world. And it is just so tarnished at the moment. And I worry it will lose its beacon status. Yeah, and I would say for folks, too, that especially those that have a background in science or work in healthcare medicine-related fields, call and make sure the people you're talking to know that that's the area you work in, so you are an expert in that area.

It's absolutely true. If somebody wanted to find more information about the NIH, NHGRI, is it still the best? I know some websites have gone down. I've been working with a few folks related to some of the efforts of the CDC and the pages no longer exist. Is there places still to find information? Yeah, this is a question that almost breaks my heart. What I will tell you is NHGRI has been very proud of our website. It's very easy to remember. It's genome.gov.

We've put a lot of our heart and soul into it. There's a lot of great stuff there. I think a lot of that stuff is still there. And I would tell you that's probably the best place to go. And I think you could find most of what you would need there. I will tell you that on April 1st, our entire communications group, including all the people involved in developing the content for that, were all terminated. So they are no longer at NIH, like a lot of other institutes. They're communication staff.

And they haven't replaced that. They're going to centralize a lot of the stuff, allegedly. But if you go to genome.gov now, there's a big banner. It says nothing's being updated. So it's been, you know, a couple months. Since anything's updated. I still think for most people, that's a good place to go. There's other places to go. And I would just, you know, Google away or whatever your favorite search engine.

But it does, it is sad because it's not entirely clear if genome.gov is going to ever be updated again or when or how. And there'll be great discoveries and great new things we need to be posting. And we won't be able to, or the Institute won't be able to do it because it doesn't have staff to do it, at least not yet. And I think that's a good call out about that it may still be there, but it just may not be updated. So one of the things I do for like show notes is I try to get resources.

And as somebody who isn't sponsored by a lab, I try to find what I call like agnostic resources, right? So they're not, and NIH has been a huge help in finding some of these agnostic resources. And a few of the pages I've seen are still there. Some have said they won't be updated. There's one or two I feel that had a note saying that they will be taken down as of sometime later this year or something. Like they had an expiration date acknowledged on there. So it is scary.

You know, I'm not there, so I don't know what the plan is. And I have heard of other groups and rumblings of people that know way more than I do about coding and all that are trying to like pull this information, trying to build up repositories for access later.

I know we've covered a lot, but if there's one thing that people walk away remembering from the conversation, what's the one thing you hope they take away? I would hope they would take away that there has been... A remarkable community of genomic and genetic scientists who started on a very altruistic journey in 1990 as part of the Human Genome Project. It was a very small community then, but 22 years ago, the Genome Project was completed.

And ever since then, the community has grown substantially. And genomics has found its way all across all the life sciences, but in particular, all across all parts of biomedical research. I didn't happen to mention it, but every one of the 27 institutes and centers at NIH, they all do genomics now, whereas years ago, we were the only, I'm sure I was the only one. This is an incredibly exciting endeavor.

Yes, you got to be patient. It takes a while before we see clinical improvements and clinical outcomes, but they're happening now. We're saving lives. We're making it easier for couples to make decisions about unborn children. We are diagnosing children and adults with rare genetic disease. There's an incredible triumph as we start to see genomics be applied to medicine. And, you know, but with that comes the need to continue the momentum, to continue the push forward.

So much more needs to be done than has been done. Some of the greatest things are still to come. But also that people need to become increasingly aware of how genomics is relevant in medicine because all of us are patients or will be patients. And the language of genomics will become increasingly relevant in conversations with healthcare professionals.

And that's a good thing, but it also means that we need to make sure that we have tools and abilities to explain this to patients and help them make informed decisions that their healthcare professionals are going to be asking them to make based on genomics. And I think, again, that just underscores why it's important to be able to do this research and create these materials to be able to reach any patient where they're at, because we're all going to be in that position at some point.

It's absolutely true. Absolutely true. Well, thank you so much, Dr. Green, for being on the show. I really appreciate it. Well, it's been fun. It's been really great joy talking to you, and I hope your listeners enjoyed hearing our discussion. For more information about this episode, visit allaccessdna.podbean.com, where you can also stream all episodes of the show. This link is also in the show notes for easy access. Any inquiries on the podcast can be sent to allaccessdna at gmail.com.

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