The Dose - In an Era of Misinformation, Does Science Stand a Chance? (feat. Dr. Francis Collins)

Episode Date: October 10, 2025

“If people stop trusting science, they stop trusting each other. That has huge implications for everything, not just medicine.” Science, and medical science in particular, is under attack in today...’s world. Many of our nation’s leaders are choosing politics over facts, and prioritizing profit over public health. Online, misinformation about vaccines and medications is spreading at an alarming rate. On a new episode of The Dose, host Dr. Joel Bervell discusses some of the biggest challenges facing modern medical science with Dr. Francis Collins, who served as director of the National Institutes of Health under three different presidents. They talk about how to assess the trustworthiness of an information source, why every person deserves access to their DNA sequence, what happens when politics meets science, and more. 

Transcript
Discussion (0)
Starting point is 00:00:00 The DOS is a production of the Commonwealth Fund, a foundation dedicated to health care for everyone. My guest on this episode of The Dose is physician scientist Dr. Francis Collins. Under his direction, the Human Genome Project produced the first finished sequence of the human DNA instruction book in 2003. From 2009 to 2021, Collins was the director of the U.S. US National Institutes of Health, serving under three presidents. Following a year in the White House as the president's acting science advisor, he returned to NIH to oversee a research laboratory as a distinguished investigator in the intramural program of the National Human Genome Research Institute. He has also worked with advocates in Congress to launch a bold initiative to eliminate
Starting point is 00:00:51 hepatitis C in the United States and to help design a genomic Centers of Excellence program in Africa. His contributions to science, medicine, and society have been recognized by the Presidential Medal of Freedom, the National Medal of Science, and the Templeton Prize. His most recent book is The Road to Wisdom on Truth, Science, Faith, and Trust. Earlier this year, Dr. Collins and I shared a stage on a panel, and it's a true honor to bring him here for a deeper conversation. In fact, his work was part of the foundation for my own advocacy. I launched much of my social media presence by drawing on genomic research he pioneered to dispel race-based myths in medicine. In that sense, Dr. Collins, you've been a mentor to me for a long time, long before this
Starting point is 00:01:35 moment. Thank you so much for joining me here. Well, I'm honored to join you, and I didn't know about this connection that I might have had with you even before I had met you. So thanks. It's pleasure to be part of your program, and I hope we can talk about stuff that people will find interesting, because there's a lot going on. There's a lot going on, and absolutely. I mean, I was a molecular biology major, so your contributions have been pivotal to everything I've done throughout my life. And I want to start there. You've had such a remarkable career, shaping science at the highest levels, leading the National Institutes of Health for 12 years, and maintaining a lab there until just February of this year. I want to start by talking about what you're doing now
Starting point is 00:02:12 and why. Well, my departure from NIH after 32 years was not exactly the way I had imagined it happening. After January 20th, it became very difficult to do research at the NIH. Various restrictions were placed upon purchasing, doing any new experiments, or even speaking in public, or submitting articles. And I found it was pretty untenable and was also made to feel very unwelcome. So I left on February 28th, and now here I find myself somewhat unexpectedly unemployed. So what to do? I deeply believe in the value of medical research, and I think the case supporting that is overwhelming in terms of lives saved, suffering reduced, people giving a chance to have better health spans, not just lifespans. But I also see that many of the
Starting point is 00:03:12 projects that are in the spot of being able to make progress are now really having to slow down universities where most of NIH-funded research goes on, and many of them also under attack and sustaining really serious threats about loss of support. Young scientists who are our most important resource, the people who are going to make the next generation of breakthroughs, are really troubled about whether there is a path forward for them anymore. So what to do? I feel like I've got to contribute something here.
Starting point is 00:03:49 I care so much about this, and I have a bit of a track record of working well, I think, with both parties and with leaders and all the branches of government. Maybe I could be a source of some kind of encouragement to get this remarkable engine of discovery running again. But my sense is that the real message has to come from people whose lives are affected. So Joel, right now I'm working on trying to put together a story bank of hundreds of stories of patients whose lives have been greatly benefited in the past or at the present time by medical research, and who would like to tell you about that?
Starting point is 00:04:30 Deaths from cancer, drop it now by 25% over what they were a couple decades ago. HIV-AIDS is no longer a death sentence. Sickle cell disease has been cured by gene therapy. Cystic fibrosis after 30 years of hard work that actually began with discovering the gene in my own lab back in 1989, now leading to this amazing drug breakthrough so that most people with cystic fibrosis can start thinking about retirement instead of an early funeral. And we're on this exponential curve of research potential. It's the worst time to pull the plug on this or to restrict the engine. We've got to do more for cancer, for Alzheimer's, for diabetes, for
Starting point is 00:05:14 kids with rare diseases that we might be able to cure all of that hangs in the balance and I guess I'm a bit obsessed about trying to do something to help with that I absolutely love that the idea of that story bank and bringing what's abstract to make it concrete what's the format that this takes place in is it video is it audio is it an interview format and how are the stories being captured it should be all of the above but I think the most critical place is video and it's short punchy videos. I want a bank of at least a couple hundred of these one minute, maybe one and a half at the most, starting out in the first five or six seconds with, okay, I am so-and-so, I have cancer, but I am actually now in remission because of medical research. I am living proof. And that sort
Starting point is 00:06:01 of stops people in their tracks like, okay, I want to hear the rest of this one minute. That, together with social influencers, like you maybe. I'm in. You sold me already, so. I had the opportunity to meet with 250 young people who are cancer survivors, everywhere from age 15 to age 30, and many of them now in remission, but not sure the remission will last, and counting on medical research to be one step ahead of whatever they need, and very alarmed to see that that enterprise might be slowing down. Those kinds of voices really can break through all the noise and actually wake us up and say, wait a minute, this is a truly good thing. This is not political. It is a noble enterprise to try to
Starting point is 00:06:50 alleviate suffering and save lives. And by the way, also, it's great for our economy on top of that. The return on investment of government funding and medical research is somewhere between three and eightfold. So all of that, it's a case that can basically make itself compelling, but I think it starts with a story. That's what we respond to. Absolutely. I think while data is important, it's so important to have these stories
Starting point is 00:07:17 that illuminate that data and why it matters. We as humans respond more to emotion, unfortunately, that we do to fact sometimes. And I love also that you're taking this to the social media format, meeting people where they're at. Today we have more data than ever before. Technology is accelerating science. And I wonder how you see care.
Starting point is 00:07:36 Is it keeping pace with capacity we have to do better, to keep people healthier. And then how does this also play into this need to kind of stay connected to people when so many people lack science literacy right now today? Yeah, there's a lot to unpack there. I'm afraid we are not taking full advantage of the way in which our knowledge about health and disease has been exponentially expanding. The translation of that into everyday clinical care is slow and imperfect,
Starting point is 00:08:04 oftentimes held up by various things like decisions about whether a particular new development is going to be reimbursed by third parties or not because of the way our system works. And sometimes that takes a decade or more before it actually settles in. I mean, give you a case in point, and I don't know when this will get solved, I'm totally convinced at this point that all of us would benefit if we had our complete DNA sequence, It's our genome sequence as part of our medical record so that when something comes up in terms of advising you about how to stay healthy, that information is right there written into your own instruction book about what things you might be at higher or lower risk than somebody else.
Starting point is 00:08:49 And you could individualize your health maintenance instead of doing the one-size-fits-all thing that most people kind of ignore. And if you got sick and you needed a drug to be prescribed, there's a hundred drugs now where the FDA label says knowing this individual's genetic predisposition to whether this drug is going to work or not, it's going to be really helpful in getting the right dose for the right person at the right time of the right drug. And we're not using that information because it's not available. And some might say, well, it's the cost. Well, come on. Yes, it used to be that first human genome that took us 13 years to produce cost about $400 million.
Starting point is 00:09:32 Now, you can have your genome sequenced for about $200, and it can be done in a couple of days. So a lot less than an MRI scan that we seem to think is perfectly reasonable to spend money on how many of us listening to this have had multiple MRI scans. I have. And the genome sequence, you just need to do it once. It's there. Now you've got to be careful about how to protect it in terms of privacy and not having it spill out in places it doesn't belong with their ways to deal with it.
Starting point is 00:10:03 But we are so slow in coming around to this because third parties will not pay for that. They want to have 10 years of evidence that this has actually changed outcomes. I think that evidence is very compelling already in small scale, and it shouldn't require this kind of demonstration. We also have the fact that our health care system is broken in lots of ways, and it does not reach people equivalently.
Starting point is 00:10:31 We are a diverse population, and health disparities are quite real. And what zip code you were born in has more to do with how you're going to do in terms of survival than your DNA. Absolutely. Hearing you speak about both the potential for that whole genome sequencing, plus these disparities that still exists, makes it clear just how much more science can offer to improve care. But alongside that promise, one thing that I think about a lot is a growing risk that's happening right now, which is disinformation. Now, we can have all this information out there, but oftentimes it can be information that is wrong or that's purposely leading people down an incorrect pathway.
Starting point is 00:11:09 And we're right now living in a disinformation ecosystem. Technology has created this capacity to spread information that is intentionally untrue, could be harmful, and is often spread with the aim of financially bettering bad actors. When we were on the panel together not so long ago, there's a moment where you said, at the moment, politics plus science has basically resulted. in politics. The science gets lost along the way. And I thought that was so poignant. How should we be addressing this as scientists, medical doctors, as just citizens of the world? I agree. It's a real crisis. There is so much information that's flying around that is just plain
Starting point is 00:11:46 wrong. And it's hard sometimes to distinguish that we need to develop our filters so that they're better at identifying whether this is information we should trust or not. I write about all this in this book you mentioned at the beginning. of the Road to Wisdom, which has a lot about this misinformation epidemic. And, you know, before we were so polarized, I think we were better at figuring out how do we decide who or what to trust. We have somehow lost the ability to see truth in unusual places, including from sources that we normally wouldn't agree with. We've gone from thinking people that are sometimes misguided, maybe they'll come around to thinking, no, they're never going to come
Starting point is 00:12:30 around, they're evil. And that is troubling to the deepest level of what's happened to our society. So for misinformation, for the general public, again, figure out how do you decide what information to accept? I think there's three things you ought to pay attention to. One is, does this source have competence? Have they done the work? Do they have evidence? Do they have evidence? Do they they really have dug through the nuances and know the history and if it's a scientific issue, have they actually studied all the peer-reviewed literature and tried to assess, okay, which claims have held up over and over again and been reproducible? Do they have integrity? Or are there some funny things there in the background that you ought to be careful about?
Starting point is 00:13:16 And then the third one is, do they have humility? Are they willing to say when they made a mistake? Are they willing to say their boundaries of expertise are actually limited? If you don't find those three things, the competence, the integrity, the humility, be careful. And don't bring that particular claim into your own storehouse of information because then it'll be there and it'll confuse you and misguide you. Yeah. Well, everything you said is so important and so important. I mean, the things I would add too is I wish that we had more digital literacy classes. We need more of that critical thinking in today's world, but I think we're getting less of it.
Starting point is 00:13:56 And for many students, they've never gotten it in the digital ecosystem at all, making people more privy to jump into disinformation ecosystems. That's a really important comment. And I sort of looking at my grandkids who are all in that phase where they're also trying to develop, what is their own level of critical thinking? And they spent a vast amount of time soaking up information without necessarily. necessarily having the tools to sort through it. Well, I will say, even with all the noise of disinformation, the reality is that science has
Starting point is 00:14:29 delivered breakthroughs that fundamentally have changed, how we think about health. I think one of the clearest examples is the human genome project, which I want to kind of jump back to. You've said the driver for you in genomic research was an effort to foundationally shift the focus in health care, away from treating sickness to enhancing the understandings of what can keep us well, disease prevention. Can you talk about that original impulse you had and the way the human genome project has evolved? Sure. So I'm a doctor. I'm trained in internal medicine. I spent a lot of time earlier in my career
Starting point is 00:15:01 taking care of very sick patients in hospitals and others that were chronically ill in clinic. And it was pretty clear that an awful lot of what I was seeing could have been prevented if we'd had the tools and the appropriate health behaviors to be able to implement to avoid terrible. examples of heart disease or hypertension out of control or even a lot of cancers that are due to things like smoking. And yet, we weren't doing much about that. We didn't really have a health care system. We had a sick care system that really didn't offer you much until you got sick. And that's just all upside down. And I knew that a lot of the ways in which we could do a better job of prevention would have to take you beyond this sort of one-size-fits-all approach to really
Starting point is 00:15:48 understanding the individual. We're all different. We have different inheritance, different DNA risks, but we have different health behaviors, different nutrition, different environmental exposures. Wouldn't you want to have all of those things folded together in a plan that was really going to focus on prevention? Of course you would. But we're not going to get there if we don't have the tools to do those kinds of measurements on a very large number of people so you can begin to sort out what actually correlates. As a start, you'd want to have everybody's genome sequenced as part of such a big cohort study. But you'd also want tools to do a better job of measuring how they're making their own health decisions, what their nutrition is, what
Starting point is 00:16:35 environmental exposures they have. So we now have that program. It's called All of Us. You could be part of this, although it's getting close to the point of being fully enrolled. We have 880,000 Americans who have signed up for this effort over the last five or six years. I'm one of them. Basically, you sign up to say, I want to be part of this. I will give you a blood sample where you can get some DNA and sequence my entire genome, and you give me that information back. I will undergo a physical exam, and you can measure a lot of things.
Starting point is 00:17:11 about me in that blood sample, and I'm going to answer a lot of questionnaires about things that I'm doing as far as my health, and maybe wear a Fitbit, and allow you to collect that data as well. That's been going on. Already of those 880,000 people, 600,000 of them have had their complete genomes obtained. The rest are coming along pretty soon. It's the largest collection of complete genome sequences on Americans so far, and it's all anonymized. and then made available in a what's called a researcher workbench, where some 12,000 researchers are now trying to mine through this and figure out. How do we keep people healthy?
Starting point is 00:17:52 Because most of the people enrolled in this are actually reasonably healthy. Some of them have chronic diseases. Some of them are younger and so far are fine. And so we're following them prospectively. They also make their medical records available. So we know what diagnoses they have, what medicines they're taking, and we have the chance to see if something. happens, what happened, and was there a way that we might have predicted that and avoided it?
Starting point is 00:18:16 This is a dream that I had hoped to see come true, and you'll get all the information back on yourself, you're a partner in this enterprise, and you deserve to know what we know, and you will. Absolutely. And I mean, in that same vein, you've had, I mean, I said at the beginning, but you've had an extraordinary list of accomplishments, but there's one that I don't want to be overlooked. And that's the fact that a little over a decade ago, after concern, arose about the publication of the genome of the Gila cell line, cells that we're taking from Henrietta Lax. I talk about her a lot in my own account, and I actually have a video coming out pretty soon with her family. Oh, really? Yes, yes. Her granddaughter, we did a great
Starting point is 00:18:56 about Hila 100 in the work that they're doing there. But for those who don't know, Henry Rada Lax is a black woman, her tissues were harvested without her consent in 1951. But you and other NIH leaders worked with the LACS family to reach an agreement that both protected their privacy and allowed researchers controlled access to that genomic data. First, I want to say thank you for that, because I think it's really meaningful, especially when we look at the history of mistrust within the healthcare system. But can you talk about the meaning of that work and of that agreement? I was one of the most powerful experiences I had my whole 12 years as NIH director. It was, of course, the case that this cell line was obtained from Henrietta back in 1951. At the time, there were really no
Starting point is 00:19:40 guidelines about consent for such issues, which now in retrospect we think, oh, what were we thinking? But that was the norm at that point. So a biopsy was taken of her cancer and a group that had been trying to see if it would be possible to grow human cells in the laboratory and having multiple failures succeeded with her cells. The cells that ultimately got called Heela for Henrietta Lax, they're growing in my laboratory, my former laboratory right now. That's true of many laboratories around the world. These have been the kind of cells where we've made all kinds of amazing discoveries. They've been involved in multiple Nobel Prize work because they are the way in which we really understand a lot about how a human cell does what it does.
Starting point is 00:20:27 But of course, this was done in a fashion that in retrospect did not stand up to appropriate ethical norms, even though at the time it was. It became clear that along the way, the source of these cells was made public by an investigator at Hopkins. So the Lax family, descendants of Henrietta, kids and grandkids, then became identifiable. Now, at the point where we were able to start sequencing entire genomes, there were lots of interest in sequencing various cell lines, and Heela was one of those that was put forward. And in fact, a group in Germany sequenced that genome from helo cells and was purporting to publish a paper in it when it became clear that the family had no input to this and might potentially be at risk of having things about them revealed
Starting point is 00:21:23 as blood relatives of Henrietta. So I got engaged at that point feeling like, whoa, wait a minute, this isn't right. We did manage to slow down any public release of that information. and there was another group that was also about to publish. And I reached out with help from people who knew them to the Lax family and had the most amazing series of meetings in a conference room at Hopkins with multiple members of the family. And it was fascinating.
Starting point is 00:21:54 They were both really troubled that this had happened and that their relative, Henrietta, had never really been recognized for her contribution, but also that now that it was known, it was her, that they were at risk and hadn't had the chance to have any input into this. But they wanted the work to continue. They made that very clear. You might have thought they would say, okay, you've got to stop. Nobody should be using these cells anymore.
Starting point is 00:22:20 Oh, no. They wanted those cells to be out there working. I think that's something one of them said. So how would we do that? The conclusion that we reached was that the actual sequence of those cells ought not to be something that was just available to anybody who might use it in some way to discriminate against the family. It ought to be available to researchers who had a really good explanation of what they were going to do with it, who agreed not to use that in any way
Starting point is 00:22:50 to contact lax family members, and who agreed to acknowledge that this was an important resource for them in whatever publication they came out with, and to publish all the data. And that is what we did. We set up a review group who would look at the applications. Two members of the Lax family were on that review group. And over the course of many years, I think by now probably approved 60 or 70 applications and rejected a few that did meet that standard. And as a result, I think this close connection happened between medical researchers and the Lax family who previously had been on very different sides of the issue. It doesn't change the fact that maybe things shouldn't be. been done that way they were 70 years ago. But it was an effort to try to come back together
Starting point is 00:23:37 and listen to each other and try to come up with a fair judgment about the best way for research to go forward, but the family's wishes to be attended to. Thank you for doing that. I don't think it was, for many people, they may not have even thought that, but you took it upon yourself to reach out to make sure that we understood how ethics and equity are inseparable from scientific progress. Looking more broadly, what discoveries or directions from the Human Genome Project have surprised you in ways that you may not have anticipated at the beginning? I didn't realize how profound this would be for cancer, for the ways in which we now manage cancer and in certain instances prevent it.
Starting point is 00:24:20 I mean, we knew that cancer was a disease of the genome. We knew that good cell can go bad if it acquires a mutation that causes it to grow when it should have stopped, but the idea that that could be actually brought into the standard of clinical care, which it now is in many fairly advanced cancer centers, was pretty astounding. Most people now, if you go to a cancer center and have a new diagnosis of cancer, they will want a bit of that tumor, and they will sequence its genome, and compare that to your DNA sequence in your blood, which is what you were born with, and look to see, what happened here? What is the misspelling that's popped into an oncogene or a tumor suppressor gene
Starting point is 00:25:04 that's causing those cells not to have the appropriate breaks on their growth behavior? And very importantly, that's not just an idle academic question. That may be the best predictor about how to pick the right intervention that's going to help you stop that cancer and maybe cure that patient. Most of the big developments in new drugs for cancer have come about because of genomes. because we've discovered, oh, that gene seems to get mutated fairly often. That's something we could target with a drug. Friends who have lung cancer that we used to think was like the worst kind of thing you could have. These are non-smokers.
Starting point is 00:25:43 They develop this lung cancer very often. They have a specific mutation in the gene called EGFR. And there's a very effective drug that goes after that. I've another friend who has leukemia diagnosed 20 years ago. doing fine because his leukemia also has a gene that's activated, a tyrosine kinase, for which there's a very effective drug that seems to basically stop those cells from growing and allows him to live a normal life. So genomics is just totally revolutionized, our understanding of cancer.
Starting point is 00:26:18 For me personally, that might even matter. I have prostate cancer. I'm fortunate at the moment after a radical prostatectomy to be cancer-free. but you're never sure about that. And if it happens to recur, I already know from the way in which they analyze the original tumor of a possible drug target that might be worth pursuing. Right now, I hope I don't need it,
Starting point is 00:26:41 but if I do, there's going to be something there. That, I wouldn't really imagine this would be so dramatically transforming cancer care when we first sequenced that first genome. Yes, well, thank you and congratulations. That's wonderful news, hearing that your cancer-free after your experience of prostate cancer, but also, as you mentioned, some of the surprises you've described when it comes to cancer treatments, so just how far-reaching the human genome project has been.
Starting point is 00:27:06 But another legacy is the recognition that not all communities have been equally represented in genomics research. In 2013, you launched human hereditary and health in Africa to help address that. Can you talk about the status of that initiative and any challenges you faced with it? I'd love to. My first went to Africa as a volunteer, a missionary physician, to Nigeria. That was about 35 years ago. And it was fascinating and inspiring.
Starting point is 00:27:36 And the people are so courageous and smart. And they take things in stride that we spoiled Americans would never be able to deal with. But I also saw, boy, there's a lot of research opportunities here that aren't being pursued. I was in a little hospital in Nigeria. There was a fair amount of diabetes, but the diabetes was not in people who were obese because not very many people were obese in that part of the world.
Starting point is 00:28:01 And it behaved a little differently in terms of the way in which the disease progressed. But nobody was working on it. So I started out thinking, well, maybe we should start a little project on diabetes in Nigeria and Ghana and got some funds for that from NIH. And it actually started to look pretty successful.
Starting point is 00:28:18 But then it was clear. Well, that's not good enough. So when I became NIH director, it's like, what can we do about global health that we aren't really pursuing? And for a geneticist, Africa is the place where you really want to study everything, because that's where we all came from. That's the cradle of humanity. That also is the place where the greatest amount of genetic diversity still exists, because as people migrated out of Africa, they brought some of that with them. So with a lot of conversation with a lot of people, and a big help from the well-fired. trust in the UK who agreed to be a partner with NIH on this. We started this program of
Starting point is 00:28:57 H3 Africa, human health and heredity in Africa, invited institutions across the continent to apply to be part of this, rigorously reviewed their proposals, and then set up this network that brought together institutions that hadn't really had those links before. Now, Joel was interesting. Many of these institutions in Africa had a North-South collaboration. Maybe they were working with Harvard or Ohio State or University of Oxford, but almost none of them had been South-South collaborations with each other. We made that happen with H-3 Africa by building better internet connections between them, sharing faculty and educational opportunities, and building research projects that involved just more than one institution.
Starting point is 00:29:47 And what was possible there in terms of expanding technology capabilities and making some really new insights, obviously about infectious disease, because that is still a scourge of many of those countries, but also non-communicable diseases, what's really happening with cancer and heart disease in these different environments? And what's the difference in the genetic contributions? Oh, yeah, diabetes. I think we figured out something about why diabetes in Nigeria is a little different because the genetic factors are a little different.
Starting point is 00:30:19 So all of that, over the course of 10 years, I would say, was just an unparalleled success. And it trained a whole bunch of investigators who otherwise might have gotten frustrated and just left to go somewhere else. The brain drain, which has been doing so much harm to Africa, started to get reversed. But it was a 10-year program, and now it needs to go on. So the big push now is to try to develop an even bolder Centers of Excellence program, across Africa. It will focus on pandemic preparedness. We know that's critical, and a lot of that's genomics. That's how you know whether you've got a pathogen, sequence its genome. But it's also
Starting point is 00:30:57 going to be about precision health, prevention, as well as management of chronic disease, and a lot of it is going to be out workforce development. Africa has the largest cohort of young people by far on the planet. Incredible talent, and also talent that if it's not, not given a chance to pursue something, is going to be restless. So this is on the business plan scale, pretty far advanced, has a little bit of seed money. Looking now for possible big-time support, it would take about $120 million a year to do this right. That would be about 30 of these centers. And there are some philanthropists very interested in this and looking to see if we could get it off the ground in the next year or two.
Starting point is 00:31:44 And I got to say, very importantly, this whole project, the Centers of Excellence, is not designed by me. It's designed by African scientists who can see what the African needs are and what the workforce is going to need to do in order to achieve those. That's the way it ought to be. We've had too much colonialism in Africa. This is not that. Yeah. Oh, I absolutely love that. And I think you've previously called this the African moonshot when you're envisioning, yes, this network of building and training capacity among African scientists and developing common standards.
Starting point is 00:32:14 for use across the, as you mentioned, not the north-south, but south-south across the continent. And I actually don't know if we talked about this, but my family's from Ghana. And so we go back every single year. But I'm so curious, how might some of these efforts make an impact on people living in the diaspora? Well, there's good examples of how what we learn in Africa has enormous consequences for the diaspora as well. There's this new observation about kidney disease that I think is pretty perfect. If you walk into a dialysis unit in the United States and you look around, you will see there's an awful lot of black people who are there with basically complete kidney failure
Starting point is 00:32:58 where the dialysis is keeping them alive, hoping that a transplant will become available. But why is this so disproportionate? And I think if you'd ask somebody 10 years ago, they'd say, well, it's probably our health care system and the fact that black people are particularly unlikely to get the care they need for hypertension or diabetes, and so that was going to be why their kidneys failed. And there's certainly some of that going on. But it turns out there's this other story, and it's a genetic story. It's about a gene called APOL1, which we all have. But if you have a variant in APOL1 and you live in West Africa, you're protected against sleeping sickness. And sleeping
Starting point is 00:33:40 sickness, having taken care of people with that when I volunteered there, is a pretty horrible disease for which many people don't survive. So it's this over the course of many generations, a selection has been happening for those variants in APOL1 that are protective. But guess what? Those same variants also predispose people to kidney failure. So if you're one of the 15% of African Americans, you're at risk of that kidney. failure. And that's now not just an observation about, well, here's somebody who should be particularly watched. There is now a clinical trial. For a small molecule drug, the phase one trial looked pretty promising. The larger trial will see what happens. Might actually be what
Starting point is 00:34:29 we need. If you know you're at genetic risk, get on this particular intervention, and you don't end up in the dialysis unit. Wouldn't that be a good thing? And much of this really comes about because of studying genetics in Africa and finding these APO-L-1 variants and wondering what else they do. Well, I may have to steal that for a TikTok video because I think I knew it. I knew about the APO-L-1, but I did not realize the connection to African sleeping sickness. But I always often talk about sickle cell being connected to malaria. I mean, it's the same idea of genetic. Same idea.
Starting point is 00:35:01 Yeah, genetic protections that were built over time that we may no longer need now, but have offers us protection in the past. Exactly. Well, Dr. Collins, I want to say thank you so much. Thank you for everything we've talked about from your current lab work to the clinical promise of whole genome sequencing, whether care is keeping pace with technology, the challenge of disinformation in defending trust, the human genome project, Henry Hlaxx, we talked about so much today. Truly, being here and having the opportunity to speak to you, feels like a full circle moment for me. Like I mentioned, I was a molecular biology major in college, and I was reading so much of your research, seeing so much of, the incredible work you were doing with the Human Genome Project, that it's what continued to inspire me to enter into medicine in the first place. And I'm just so thankful for you for taking the time to be here with us today. Well, I appreciate the chance to chat with you. Great to talk to you. You too.
Starting point is 00:35:54 This episode of The Dose was produced by Jody Becker, Mickey Kapper, and Naomi Leibowitz. Special thanks to Barry Scholl for editing, Jen Wilson and Rose Wong for Art and Design, and Paul Frame for web support. Our theme music is Arizona Moon by Blue Dot Sessions. If you want to check us out online, visit the dose. Show. There, you'll be able to learn more about today's episode and explore other resources.
Starting point is 00:36:24 That's it for The Dose. I'm Joelle Bervel, and thank you for listening.

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