Originally Broadcast November 26, 2012
Michael Keegan: Welcome to The Business of Government Hour. I’m Michael Keegan your host and managing editor of The Business of Government magazine. Advances in biomedical research seek to enhance health, length and life and reduce the burdens of illness and disability. The National Institutes of Health and IH play a central role in making this all happen. Its basic research and translational advances have prompted a revolution in the diagnosis, treatment and prevention of diseases. As a result, U.S. life expectancy has increased dramatically over the past century and still continues to improve. Not only are people living longer, they are living healthier lives however science is not a hundred yard dash. It’s a marathon; a marathon run by a relay team that includes researchers, patients, industry experts, law makers and the public.
This is a remarkable time of discovery and the opportunities in science and medicine are at once exciting and urgent. How has basic research prompted a revolution in the diagnosis, treatment and prevention of diseases? What is NIH doing to advance biomedical research to advance human life and health? How does the investment in such research increase the countries global competitiveness? We will explore these questions and so much more with our very special guest Dr. Francis Collins, Director of the National Institutes of Health. Dr. Collins, welcome to the show. It’s so great to have you.
Dr. Francis Collins: It’s wonderful to be with you.
Michael Keegan: Dr. Collins, before we delve into specific initiatives, perhaps you can provide us with a brief overview of the history and mission of the National Institutes of Health. When was it created, and what is its mission to date?
Dr. Francis Collins: We are celebrating our 125th anniversary in IH. Its original, which was a hospital, particularly focused on mariners who had a lot of problems with tuberculosis. It was founded in 1887. At that point it was in Staten Island. It had gradually moved to Washington and ultimately to Bethesda and has really been our nation’s major investment in biomedical research now for many decades, the largest such institution in the world.
Michael Keegan: So with such an interesting mission, could you give us a sense of the scale of operation within the organization? How does it organize the size of its budget and the number of employees?
Dr. Francis Collins: There are about 17,000 full-time employees plus contractors that work for the National Institutes of Health with a wide variety of skill sets. Many of them are distinguished scientists with doctoral degrees but lots of other people work on the campus in Bethesda and in the other units that we operate including one of our institutes in North Carolina, some other activities in Baltimore and others in Montana. We are scattered a bit but the main focus is on our campus right up here on Wisconsin Avenue in Bethesda Maryland.
Michael Keegan: Great. I’d like to get a sense of the composition of your research portfolio. What percent of research is conducted in-house versus awarded through NIH’s competitive grant’s program?
Dr. Francis Collins: So about 11 percent of the budget is devoted to research in what we call our intramural program. Those are both basic and clinical studies done on our facilities including the main one here in Bethesda and that includes the largest research hospital in the world, the Clinical Center of NIH, 240 beds all utilized for clinical protocols. Patients come here from all over the country, all over the world, to be part of these clinical research studies. The remainder of our budget primarily goes out in grants to our nation’s finest institutions and some outside the country as well. Investigators send us their best ideas. They are reviewed in a two-level peer review system which is very rigorous and the ones that are judged most meritorious then get supported. So 85 percent of our budget goes out in grant awards to those investigators. And by the way our overall budget this year is about 30.8 billion dollars, so it’s a very substantial amount of tax payer’s money for which we are grateful and feel very responsible.
Michael Keegan: So Doctor, you’ve done a wonderful job of setting the context and giving us a sense of what NIH actually does and how it does it. I’d like to focus a little bit more on your specific responsibilities as the director of NIH. Would you tell us more about your duties and the areas under your purview?
Dr. Francis Collins: It’s an amazing job and no day is like any other. I am responsible for standing at the helm of this remarkable ship of discovery and trying to see if it can be steered in the direction that it’s going to have the greatest benefit to the public. So that means I oversee the actions of 27 institutes and centers which make up the NIH, each of which is led by a distinguished scientist who is a director of one of those institutes.
I’m particularly responsible for looking out for opportunities where we can do things in a collaborative way across institutes so that, for instance, if there is a problem with obesity research, we can get all the institutes to work together on that and also in looking for opportunities to collaborate outside of NIH with other government agencies like FDA, or CMS, or CDC and with other foundations or with industry. I spend a lot of my time trying to make sure, especially in this tight budget climate, that we’re making the most of those collaborations.
Michael Keegan: So, Dr. Collins, how do your efforts support the overall mission of HHS?
Dr. Francis Collins: HHS is of course the department within the U.S. government responsible for health and human services and NIH is the strongest component of that focused on medical research to try to identify new ways to diagnose, to prevent, and to treat disease and to try to increase the likelihood that all of us will live long and healthy lives and not have those shortened or diminished by chronic disease. That’s a very large responsibility but we feel that if you look historically, our contributions to the improvement of human health in America have really been quite dramatic.
Michael Keegan: Dr. Collins, regarding your responsibilities and duties, you have an expansive portfolio and a fairly large budget. What are the top three challenges you face in your position and how have you sought to address those challenges?
Dr. Francis Collins: It comes in three different categories. First and maybe most important is science. Where are the scientific opportunities? Science is moving very fast right now. We’re able to do things that I wouldn’t have dreamed 10 years ago would be possible in my lifetime; working with DNA sequencing, working with stem cells, coming up with ways to do imaging of the brain in people who are alive and thinking and we’re watching what happens when they do various tasks. Those are just amazing opportunities and it is very much a part of my job to be sure that we’re pushing the envelope as hard as we can. So that’s the top challenge.
Connected to that is the need to be sure that we are training and retaining the best and brightest of our potential, most important resource; the scientific researchers themselves. How do we make sure that we’re identifying pathways so that young scientists can get the training they need and become highly productive, successful, creative, have careers that are both inspiring to us and to them.
Third, without which nothing else can happen, we need the resources to support all of this. At a time where anything that the government is supporting has come into question because of our nation’s fiscal challenges, I spend a lot of my time simply explaining why a dollar invested in biomedical research is an extremely good use of tax payer’s dollars both in terms of what it can do for human health and actually how it stimulates our economy.
Michael Keegan: Well, Dr. Collins, I’d like to learn more about yourself. You are a recognized physician, geneticist and leader of the international human genome project. Could you tell us a little bit about your career path for our listeners? How did you begin your career and what brought you to your current leadership role?
Dr. Francis Collins: I think it’d be fair to say my career is pretty non-linear and certainly as a kid growing up on a small farm in the Shenandoah Valley that lacked indoor plumbing, you would not have necessarily encountered me as somebody who is going to be on this pathway. I would have not believed it if you had suggested that. I got interested in science as a high school student initially with the science of chemistry and went on to get a Ph.D. in physical chemistry before I realized that biology and medicine was calling.
So then I went to medical school and got to the point of realizing that genetics was really the thing that I found most inspiring and most exciting. I went from that to a university position at the University of Michigan and then was asked to come here to NIH in 1993 to direct the human genome project, which had just barely gotten started at that point. That was a tough sell for me, I must say. One thing my mother said was whatever you do, don’t work for the federal government and here I was being asked to do just that. But it’s been phenomenal to have a chance to be surrounded by such amazing talent and to lead that effort which read out for the very first time all the letters of the human DNA instruction book. That’s a pretty historic undertaking. Who would have dreamed that could happen to a kid growing up on that farm in the Shenandoah Valley.
Now to be back at NIH, I took a year off in-between and then got called back to be the NIH director. It’s just an exhilarating opportunity to try to encourage the best and brightest scientists to do the greatest research you can imagine.
Michael Keegan: That’s a compelling story and I’d like to get a sense from your experience, what are the characteristics of an effective leader and more particularly given your work leading the genome project, what lessons did you learn as the director that have formed your current efforts?
Dr. Francis Collins: Well I’m sure I’ve made a lot of mistakes and I hope I’ve learned from them because I came to the job of leading the genome project with very little experience running anything much larger than my own research lab. But along the way I learned one of the things you want to do is surround yourself with the smartest people, ideally people even smarter than you are and then listen to them very carefully.
Also surround yourself with people who are willing to tell you when you are about to do something that’s not a good idea. You want people who are not afraid to speak the truth to the leader and that has been enormously helpful to let everybody know, that is the expectation. If you see something that Dr. Collins is about to do that you think is a mistake, you’d better speak up. I will never come down on you for that but if you tell me later that you knew it and you didn’t tell me, well that’ll be a problem. So yeah, the ability to have that kind of a team is just critical.
And of course any leader wants to be involved in a project where the mission is compelling and where you can have a vision about where you want to go that is ambitious and audacious and that you can get other people to share that. I’ve been fortunate that the jobs I’ve had have had that quality so that it is possible to bring people to the table and get them pretty inspired about putting some of their own sort of personal considerations to the side because the shared goal is so important. We’re all going to put our shoulders to the wheel together.
Michael Keegan: Dr. Collins, NIH is the leading supporter of biomedical research in the world. Would you tell us more about your strategic vision for NIH and how do the five themes or areas of exceptional opportunity factor into this vision?
Dr. Francis Collins: When I was asked to come and lead this effort, I spent some time thinking hard about where the areas were that were most ripe for this kind of emphasis and talked to a lot of other scientists whose opinions I value and came up with these five themes that seemed exceptionally ready for additional emphasis. They’re pretty broad. They cover a lot of what NIH is able to do. One of those is to push the basic science but inform it by technology because technology is really advancing in many ways. Perhaps in the past, biologists tended to think of technology as a secondary area of emphasis. These days, it drives so much of what we can do that it deserves its own kind of push.
Secondly, we wanted to be sure that opportunities to take basic science and bring it into clinical applications could be speeded up, emphasized, nurtured and encouraged in new ways, what you’d call translational science.
Third, because we were at that point when I first came to NIH in the midst of a national discussion about how we’re going to revise our own approach to healthcare. While we’re not part of the healthcare delivery system at NIH, we are responsible for generating the evidence about what works and what doesn’t work, so that also seemed to be a very important theme to emphasize. How could we provide that rigorous research that would enable patients and physicians to know what kind of interventions are going to be available and what’s going to help them.
Fourth, and maybe this is the one that surprised some people, was global health. I think we no longer live in a world where we can afford to think about the health of the United States in isolation from what’s going on elsewhere. All those infectious diseases that pay no attention to country borders are just one example of that. It’s more than that now with all of the things that are happening in terms of trends in chronic diseases, which cross boundaries as well. There’s lots of opportunities in global health to try to pursue that more vigorously and lots of young scientists who are interested in that area. So that was the fourth theme.
And then finally, and the most critical resource of all is to support the researchers that are going to be doing the work and to be sure we have set up a system that recruits the best and the brightest to come and join us from whatever group they represent and to provide them with a kind of career trajectory that they can feel is worth investing in, because if we don’t have that talent, none of the rest of this will happen.
Michael Keegan: So, Doctor, before we get into each one of these themes a little bit more, I’d like for you to highlight some of today’s major scientific and health challenges. Would you elaborate on these challenges and could you possibly highlight some of the factors that may have contributed to the rise of such challenges?
Dr. Francis Collins: Sure, well first of all, we’ve made enormous progress in terms of extending longevity in the U.S. Now standing at about age 79, whereas in 1900 the average survival was in your 40s so enormous progress based on the results of research. Look at deaths from heart attacks and strokes, which have dropped by 60 or 70 percent in just the last 40 years as another example of how we’ve advanced because of medical research. But of course, that has presented us with additional challenges.
Right now for instance with the aging of the population, Alzheimer’s Disease emerges as a very significant concern and one where we believe right now there’s some exceptional scientific opportunity as well. The obesity crisis, when you look at what’s happened to our country where now 69 percent of adults are overweight or obese, just a frightening number and it’s happened relatively quickly over the last 30 years. All the consequences that carries in terms of diabetes and many other complications are likely to take away many big gains that have been obtained previously in terms of human health. We urgently need to come up with better ways to give people the tools they need to avoid that future outcome of all of us being overweight, many other areas of great opportunity but challenge, cancer certainly. It’s beginning to yield up a lot of its secrets but we need to move as fast as we can to try to get those cancer death rates down because they are still far too many people who are stricken with cancers like pancreatic cancer for instance or brain cancer where we don’t have the kind of interventions that are as successful as we would like.
Those are just a few. I could also point to childhood problems like Autism which is a national concern and it should be given the increasing frequency. We don’t quite understand why that is. I could point to our increasing need to be sure that we’re taking advantage of what we know works like managing hypertension for instance. But we still have a better need to understand how to implement effective strategies in the real world and that’s another area of priority.
Michael Keegan: Dr. Collins, what is basic research and how does it differ from applied or translational research? What are you doing, more importantly, to bridge these aspects of scientific exploration?
Dr. Francis Collins: NIH spends about 53 percent of its budget on basic research. That would be defined as research on some aspect of biological processes that does not have an immediate implication or application to a disease. But you have to understand how life works at the most fundamental level before you can really understand what disease is all about so this is the foundation of everything we do. Over the course of many decades, the basic science research, which has led to no less than 135 Nobel prizes for NIH funded grantees, is the way in which we’ve often then gotten to the next level of understanding about a biological process and that in turn has led to insights about disease, which are now making big differences clinically. If we want to continue to see those medical advances going forward 10, 20, 30 years from now, we need to be doing the basic science now that is going to provide that foundation.
Michael Keegan: Dr. Collins, you noted that basic discovery and the development of therapies go hand-in-hand at NIH and that these two types of research have and always will exist together in a continuum. Would you highlight just a few areas in which basic research advances are opening up new translational opportunities?
Dr. Francis Collins: Well for instance, we use basic science in trying to understand at the fundamental level what are the causes of various rare diseases. Rare diseases collectively affect about 26 million Americans and there are about 7,000 of these rare diseases. In the space of just the last ten years, we’ve uncovered using basic science strategies the molecular bases of about 4,700 of those diseases. It’s just breathtaking the rate at which this insight has been coming forward.
Of course, that’s useful in terms of getting a grasp on what the diseases are all about but what you really want is to translate that into an intervention. Only about 250 of those diseases currently have any treatment at all. By having now made those basic discoveries, we’re poised to be able to translate that into action and that is in fact a major focus of a new center at NIH, the National Center for Advancing Translational Sciences. There are a number of steps that you want to follow once you understand the molecular bases of a disease. They’re complicated. They’re failure prone. They’re risky. But we know increasingly how to do that and that’s a great example of how at the present time the basic science informs the translation. I should say this is also a virtuous circle that when you make an observation at the basic level that leads you to clinical insights, sometimes when you try this out clinically you learn something about the basics as well. You go around that virtuous circle to your benefit over and over again.
Michael Keegan: Dr. Collins, could you give us a sense of the complex process you just alluded to? What are some of the key steps so our listeners understand a little bit more?
Dr. Francis Collins: Sure, maybe I’ll use an example and I’ll pick an example actually from my own research lab because I continue to run a lab here at NIH. We’re studying the rarest form of premature aging, a condition called progeria, which affects children who age at about seven times the normal rate and sadly usually die by age 12 or 13 from heart attacks or strokes. At that point they look like little old people who have aged very rapidly.
Basic science led us to discover the cause of that nine years ago. But now following up on that, additional basic science helped us understand why a single DNA letter out of three billion that was misspelled was capable of causing this multisystem disease and suggested something we could do about it. There are now 28 kids with progeria, it’s such a rare disease it’s hard to find more than that, who have been on a clinical trial for four years with a drug that we believe has all the right properties to help them. We’re watching closely to see how that goes with some encouraging signs.
That drug was actually developed not for progeria, but for cancer but it turns out it has the right properties to affect the pathway that we know needs some tweaking for these kids with this disease. Along the way, we’ve learned things by studying the clinical disease of progeria that are teaching us interesting aspects of the normal process of aging, something that all of us, including you and I, have in our future. It’s a great example of this basic to clinical then back to basic.
Michael Keegan: So how do you see the balance between basic science and translational research evolving into the future?
Dr. Francis Collins: I think we will continue at NIH to have about the same balance we do now with roughly 50/50 of basic and translational. I think I said basic is 53 percent right now. I don’t imagine it changing much from that. We are at NIH the major supporter of basic biomedical research. The translational and clinical efforts of course do go on also in the private sector and well they should. We work closely to be sure that what we do in that arena is complimentary and not competitive with the private sector, but the private sector is not going to do the basic research. It’s not connected to a product. It’s really NIH’s job to do that. We take that very seriously. We don’t intend to diminish that responsibility.
Michael Keegan: Dr. Collins, despite huge investments in biomedical science and technology, the number of new drugs approved per billion dollar of R&D research has been cut in half every nine years since 1950. I find that fascinating. To tackle this problem, you propose the creation of the National Center for Advancing Translational Sciences, or NCATS. Would you elaborate on the mission of the center? What are some of the key ways it will enhance the development of drugs and diagnostics?
Dr. Francis Collins: Well you point out correctly that if you look at the efficiency of producing new drugs and getting them approved for general application, it’s a very scary looking series of trends. A recent publication, perhaps it’s the one you are citing, looked at this. It almost looks as if there is some law of physics going on here where year after year the productivity of the enterprise is dropping in a constant fashion. This is sort of the opposite of what you would expect where a lot of dollars are going into this; a lot of new science has become possible. You would think we’d be getting better at this.
In fact, the authors of that article somewhat tongue and cheek decided to name this with a name of a law picking up on the Moore’s Law for computers which says things always get better. They called this Eroom’s Law which is Moore written backward to emphasize how backwards this whole scene is. So we’ve got a big problem here. We have all of these diseases for which treatments are desperately needed. We have these fantastic explosions of insights on the basic science front about what causes these illnesses and yet somehow things aren’t getting through the pipeline.
So NCATS, this National Center for Advancing Translational Sciences, was very much founded on the need to try to identify those systematic bottlenecks that caused this process to be so challenging, and it is. The average time it takes to go from a good idea about a new treatment to getting that drug approved is 14 years. The failure rate is well over 99 percent. Now an engineer looking at a pipeline like that would say come on, there must be something better you could do here to improve success and shorten the time. That’s what NCATS aims to do, to look systematically in a way that no single project focus would achieve. Where are the bottlenecks? Where are the things where we lose momentum, where time goes by more than it should, where failure rates are way too high? Could we take some of the new science that’s coming forward in the last few years and really reengineer that pipeline? That’s what we’re trying to do.
Michael Keegan: So, Doctor, as a follow-up, would you tell us more about your collaboration with the Food and Drug Administration, FDA, in advancing the field of regulatory science? How does the formation of the NIH, FDA joint leadership council factor into such an effort?
Dr. Francis Collins: It’s very important. Peggy Hamburg and I shortly after we were both appointed to our roles at FDA and NIH formed this council and agreed that we would personally co-chair it. The idea being to try to identify from both agency’s perspective how could we move more quickly to get safe and effective treatments in the hands of patients, building on the science that’s now possible?
I’ll just give you one example where we’re working with FDA on a new approach to try to identify when you have a promising drug that you think might be the next big thing for cancer or diabetes. How do you know whether it’s going to be safe? There comes that moment where you have to decide whether or not that drug can be given to the first human patient. Right now, the way we test that is to give that same drug to some small animals, some large animals at increasing doses. We look to see if there is any evidence of toxicity. It’s a system that’s slow and expensive and not very reliable unfortunately. Animals just aren’t the same as we are.
The new approach which we’re working on both with FDA and with the Department of Defense in their DARPA program, the Defense Advanced Research Project Agency, is to load human cells representing various organ types onto a biochip and to wire them up with readouts that will tell you whether those cells are happy or not when a compound is shown to them. This will allow us to look at human liver, human heart, human kidney, human brain on a biochip in a fashion that we believe should be closer to the action in terms of predicting whether a drug is going to be safe or not. And it should also be much faster and cheaper to utilize once the chip is developed.
Yeah, it’s going to be a lot of fun to see how this goes, bringing together the engineering perspective of DARPA, NIH’s biological expertise, and FDA’s intense interest in the regulatory aspects of this to be sure that it’s going to hold up well and actually be reliable. We might be able to completely reengineer the way that part of the drug pipeline is currently conducted to the benefit of everybody.
Michael Keegan: So, Dr. Collins, you’ve alluded to some of these advances and accomplishments that NIH research has achieved. I’d like to sort of highlight a little bit around chronic diseases, a healthy mind, infectious diseases, and maybe something around children’s health and aging. What are some of the advances you see?
Dr. Francis Collins: Well let me pick a few specific examples. With chronic disease, I mentioned the epidemic of obesity and diabetes. What are we doing about that? There are some 60 million individuals who currently have what you call pre-diabetes who live in the United States. That is to say they haven’t been diagnosed with full blown diabetes but if you test their ability to handle sugar and glucose, they are clearly abnormal. If nothing is done, the chances are that the majority of those individuals overtime will tip over into full blown diabetes with all of its complications. So you’d like to catch this at the pre-diabetes state and do something about it.
Well, we now know how to do something about this based on NIH research. It is crucial that those individuals are given an opportunity to get involved in a program of diet and exercise involving a coach. You don’t just send people away with a pamphlet. You actually put them in a position where they have encouragement, direct interaction with an expert who helps them figure out how to get into an exercise program, stick with it, how to modify their diet just to lose 6 or 7 percent of their body weight. It’s not like this enormously crash diet program. It turns out, that will reduce that person’s likelihood of going on to full blown diabetes by 50 to 60 percent and that’s sustained over ten years.
So if we can implement this, which we’re now trying to do in a collaborative effort with the CDC and the YMCA across the country, we could enormously reduce what is currently an epidemic of adult onset diabetes saving people all of those complications and saving our nation the cost of taking care of a diabetic, which is obviously an enormous part of our current escalation in medical costs. That’s just an example.
Other things, infectious diseases, well, this is the year where the international AIDS conference was held in Washington DC. Enormous achievements there in terms of taking what had been a fairly rapidly fatal disease in the 1980s, to now turning this into a chronic illness managed by antiretroviral therapy. So somebody diagnosed as HIV positive now has a life expectancy of about age 70, which is just phenomenal to be able to say. And a significant advances now in terms of the vaccines, which have been so frustrating to try to generate but which are finally showing some promise. As well as other interventions that make us optimistic that we might for the first time be facing the possibility of an AIDS free generation in the not distant future.
In children’s health, well certainly the efforts to understand the causes of Autism come to mind. We are learning a lot about that disease although we need more information about how to intervene when that is diagnosed. The national children’s study, which is going to get underway in the fairly near future, will follow 100,000 children all the way through pregnancy, delivery, and through their first 21 years of life. That’s going to teach us a lot about factors we don’t know about yet.
In terms of aging, the ability now to understand Alzheimer’s disease at a much more detailed molecular level is giving us hopes that there will in fact be interventions for this disease that work but they’ll probably need to be interventions introduced as early as possible, not waiting until people already have far advanced symptoms. Just the same, I would say the whole field of Alzheimer’s disease is energized in a way that has not happened in decades, by the science that’s happened, much of it just in the last few months.
Michael Keegan: Well Dr. Collins, I’d like to switch gears a bit and talk about how technology in some sense is advancing or driving science. I think you can just look at the cost of the DNA sequencing to see this dynamic at work. The cost curve for sequencing has dropped precipitously. I’d like to discuss that. What are the implications of a lower sequencing cost and to what extent may it revolutionize how clinicians diagnose and treat diseases?
Dr. Francis Collins: If you want to pick an area of technology that just takes your breath away in terms of the speed of its progress, it would be DNA sequencing. That first human genome sequence that I had the privilege of overseeing the team that managed to pull this off cost about 400 million dollars when it was completed in 2003. You can now get your human genome sequenced for about $7,000. Think about that, 400 million down to 7,000 in the space of just about nine years and the costs continue to plummet. So we will in the next three to four years certainly achieve this goal that many people thought was a bit overly audacious, namely the thousand dollar genome, but we’re well on the way to achieving that.
How will that change things? Well, it already is changing things in cancer. Increasingly as part of research studies, and it won’t be long before this finds its way into the management of cancer in general, is the desire to know in any given individual’s cancer exactly what has gone wrong in those cancer cells that’s causing them to grow faster than they’re supposed to because cancer is a disease of the genome. Now we have the chance to look comprehensively, each individual at a time, in what’s gone wrong there and what you might want to do about it because knowing that, you can then choose the right combination of targeted therapies, that are not one size fits all, but are designed for that person’s specific molecular signature. That’s just one example.
Certainly all of us in the next decade will probably have the chance to have our complete genome sequences placed into our medical record. That will give insights into what you might be at risk for in the future. It will give insights into if you fall ill, what drug should be used for you and what dose because individual differences can be predicted by a study of the DNA. So it is going to transform the way we approach many medical problems but not overnight. There were some overly optimistic predictions that this was going to happen in the blink of an eye. It takes a lot of hard work, a lot of research, a lot of driving the costs down to make those things come true.
Michael Keegan: There’s also some privacy concerns around genetic testing. I’d like to switch gears on that. What are your thoughts around privacy concerns and what needs to be done to the genetic testing infrastructure so that privacy issues are no longer a problem?
Dr. Francis Collins: As the director of the human genome project, one of my areas of focus was in fact on the ethical, legal and social implications of these advances. Much work was done to try to anticipate what we would need to do about privacy and confidentiality. One of the big achievements of that focus was the passage and signing into law of the Genetic Information Nondiscrimination Act, GINA, which now as the law of the land in the United States says that your DNA information cannot be used against you in health coverage or in employment. That was a big issue that was getting in the way of a lot of people’s comfort level in terms of having information about their genome determined, even though they might want the information for medical purposes.
In terms of privacy, again this fits pretty much into the whole question of privacy of the rest of your medical record. Are we going to have a system where DNA information is part of that medical record, and is protected in the same way as the rest of it? I think we’re coming along reasonably well there. Of course, many people would say our whole ideas of privacy are gradually evolving. Certainly people in the younger generation seem a lot less concerned about those issues judging by ways in which they put very private information up on Facebook. I wouldn’t advocate that we take that as necessarily a guide to good behavior. I do, however, think the privacy issues are manageable.
Michael Keegan: Dr. Collins, much of the NIH research successes have created the opportunity for personalized medicine. What are some of the benefits of personalized medicine? Perhaps you could share with us some success stories in this area.
Dr. Francis Collins: Sure. I’m thinking of a success story related to a pair of twins that I have learned about and met their parents. These twins were born with what appeared to be a neurologic problem that defied clear explanation. At some point, they were called cerebral palsy, and then they were tried on various drug therapies for something that fit into the category of a dystonia condition. But gradually these two, Noah and Alexis Beery became more and more impaired, particularly Alexis, the girl. These are fraternal twins. Alexis became more severely ill to the point where she was spending much time in the ER and had some very close calls with near death experiences.
Her parents, at wits end, finally sought out investigators, in this case at the Baylor College of Medicine in Texas, to see if there was anything else that could be done. The investigators decided, well, let’s really make this personalized. Let’s sequence the genomes of these two twins and their parents and see if we could uncover a cause. In this case, they hit a homerun. They found mutations in a particular enzyme that’s responsible for producing normal levels of a neurotransmitter and it made it clear that these two twins could not produce that neurotransmitter but it was possible with a simple dietary change to supply that to them. Alexis, the twin who was near death about three years ago is now running varsity track on her high school team. Just an amazing turnaround and the kind of success story you love to hear about.
I could tell you about a few others of this sort like Nick, a kid in Wisconsin who was near death from an inflammatory bowel disease condition that rarely strikes kids as young as he was whose genome revealed a glitch in a gene on his x chromosome that suggested he might benefit from a stem cell transplant, which would never have been considered for his disease. The transplant was done. Nick, I gather, had a pretty good first grade year and is now having summer camp experiences, eating whatever he wants and doing just fine. So these things begin to appear and it’s exciting to see more and more of them.
Michael Keegan: So continuing on this thread of technology driving science, mobile devices have the potential to become powerful medical tools but you also note that cool technology is not necessarily synonymous with good science or sound health practices. Would you elaborate on M health technologies and the potential benefits and issues associated with them?
Dr. Francis Collins: I’m very excited about these because cell phones are now so ubiquitous and the opportunity to use those for prevention purposes or monitoring chronic disease is very compelling. I volunteered myself for a clinical trial where my iPhone was connected up with a gadget that would send my EKG in real-time across the country to a cardiologist in Los Angeles who could then tell when I was excited because my heart rate would go up. Fortunately, I didn’t have any other scary rhythms to report but this is pretty amazing to imagine for somebody who does have a significant cardiac problem where we’ve previously had to deal with very clunky ways of doing ambulatory monitoring and now can do this continuously with real-time transmission of the results to the physician.
Another very exciting application is for diabetes monitoring. I’ve seen a pilot example of a small chip that’s embedded under the skin at the wrist that is capable of continuously monitoring blood glucose without having to stick your finger every few hours. It transmits the results to a gadget which you wear like a watch. That, in turn, transmits this continuous tracing of your glucose to your care provider. If you want to get really good management of diabetes and know exactly where you are, this is where you’d like to have the technology take you.
But, I think we have to be sure we’re not just carried away by the gee-whiz aspects of these new gadgets. You have to also do the research to show that in the real world, that results in a better outcome, otherwise we’re just fooling ourselves. That’s where I think NIH has a really important role to play with so called M health to be sure that as these exciting new technologies emerge, they get put to the test to make sure they really benefit people in terms of their overall health status.
Michael Keegan: I want to continue on this thread of benefit and in particular NIH’s research and how it benefits the global competitiveness of the country. Could you elaborate on that?
Dr. Francis Collins: It’s very clear if people look closely at the economic data that medical research has been a major driver of American success particularly in the last 20 or 30 years. It’s also clear that America’s leadership in biomedical research, which was unquestioned in the 1980s, is now being challenged substantially by accomplishments in other countries. We should celebrate what those other countries are doing and the investments they’re making, whether it’s China, or India, or Brazil, or Europe, or the UK, all of whom are making very substantial plays now to try to increase their success in this regard.
But if we’re serious about having our own economy flourish, medical research is probably one of the best things to put a bet on just judging by the way in which historically that has led America to be on top. We have not really lived up to that promise for the last ten years or so. The budget of the National Institutes of Health has been relatively flat since 2003. If you look at what inflation has done to our buying power, we’re actually down about 20 percent in terms of our support for medical research compared to ten years ago, whereas other countries, like China, are increasing its support for scientific research next year by 25 percent in one year. Meanwhile, we are not keeping up with the costs of doing this work.
If you look at how that plays out in terms of economic growth, job creation and so on, it is pretty clear that if we want to see our way out of the current difficulties, a dollar spent on medical research is a pretty wise investment.
Michael Keegan: That’s terrific. So, Doctor, just really quickly, what are you doing at NIH to promote the highest level of scientific integrity and accountability in the conduct of science, and more importantly, how are you working to attract the next generation of doctors and scientists?
Dr. Francis Collins: Very important questions. Certainly, we must conduct everything we do at NIH with the highest levels of integrity. We have to maintain that public trust. If we have lost that, then we’ve lost everything. We have very strict conflict of interest guidelines that are now applied to our scientists, both those who work in our intramural program and our grantees out there in universities to be sure that their work is not in any way tainted by financial conflicts. If they have collaborations for instance with the private sector, that’s fine but that needs to be disclosed and needs to be clear what the financial arrangements are so that no one will question whether the conclusions drawn by a scientist have been in some way influenced by something other than the facts.
I think our house is very much in order in that regard. I think that’s critical for public accountability. And our own sense of social responsibility has to apply to the fact that we’re here to serve the public. Most scientists who work in academia or who work here at NIH are not particularly well compensated. They wouldn’t go into this particular line of work if they were interested in getting rich. They’re driven by a desire to make discoveries that are going to help people. That’s our social responsibility. It’s shared by everybody in the organization. It’s one of the reasons it’s such a great place to work.
I think that ethic is very much the way that we attract the next generation. Young scientists who want to make a difference, who believe in the power of science to make discoveries, and who have a mission in their own minds of wanting to make the world a better place. This is a great place to come and live out that dream. It’s happening every day.
Michael Keegan: So, Dr. Collins, with all the investments that we’ve discussed today, what are some of the steps to help ensure you’re getting the value from the public dollars being put towards research?
Dr. Francis Collins: A big part of that is how we set priorities. How do we decide when resources are not unlimited? Where should those dollars go? There are areas of science that look promising but don’t pan out and you want to be sure you don’t keep throwing money after an idea that turned out not to be as rewarding as you thought. There are areas that maybe were extremely productive ten years ago but are now a little bit more sort of on automatic pilot and maybe those are not as important as something that’s rapidly emerging, and where you know if you make the right investment, you’re going to see serious progress in a short period of time.
That’s what we try to do so the public’s dollars are getting the maximum benefit. That means really surveying the landscape daily to see what fits into each of those categories and making sure you’re working collectively and effectively with all the other partners that are players in this research enterprise.
Michael Keegan: And you’ve pointed out in our discussion today that the partnering is critical to NIH’s efforts and successes. Would you tell us more about your international and interagency partnerships? How are you using collaboration to meet mission?
Dr. Francis Collins: It’s absolutely crucial. We may be the largest biomedical research funding agency in the world, but there’s a lot of other partners that we depend on. Some of them are in foundations. Look at the progress that’s been made in Cystic Fibrosis for instance, a disease that my lab originally back in 1989 discovered the cause and which now has this year led to the first effective drug therapy. A long term partnership between NIH and the Cystic Fibrosis Foundation, and a company called Vertex made this possible. That’s just one example.
Certainly internationally, every six months I go and sit down with the heads of the other international funding agencies that have the largest budgets for this sort of effort, in the UK, in China, in India, in Japan, in Germany, in France, in South Africa, in Canada and a few others. We try to make sure that we are working effectively together, not stepping on each other’s toes, identifying areas where we can do joint projects as we are currently doing in a new effort called the global alliance for chronic disease.
In terms of interagency partnerships, I’ve mentioned our close interactions with FDA. Those are crucial. But we also work closely with CDC on infectious disease issues. We’re working with CMS on ways to try to be sure that what they’re responsible for in terms of Medicare and Medicaid is informed by the latest research and that we are taking a tip from them about areas where they need more research in order to make wise decisions about care. We work with AHRQ, the Agency for Health Research Quality on things like comparative effectiveness research. There’s a new entity called the Patient Centered Outcomes Research Institute, which is focused specifically on identifying what works in the real world. We at NIH have lots of partnerships there and I serve on their Board.
Michael Keegan: Dr. Collins, you’re a terrific spokesperson in the highly technical field. What is your strategy for explaining science to laypeople and to what extent do some of these social networking technologies assist you in this area?
Dr. Francis Collins: I approach trying to explain science in the way that I guess I would if I was talking to my mom because I think we scientists sometimes get all tangled up in our jargon and forget that it’s probably not going to make a lot of sense to the average listener unless we put it in those terms. I also have had the privilege in a past life of being a teacher and I think you kind of know when you’re trying to get a concept across by the body language of your listeners whether it’s working or not. Maybe I’ve had enough experiences where it didn’t work to recognize that.
I guess maybe this also comes across a little bit. I’m excited about what science is able to do in the area of medicine right now. I enjoy sharing that excitement about igniting a spark in somebody else’s eye just because there’s one in mine about the ways in which we’re at a unique moment in history and to be able to tell a story about that is one of the most exciting and satisfying aspects of my job. This is an important task for all of us as scientists, maybe one that we don’t always do so well.
The social networking technologies are crucial to us. We’re still exploring the best ways to take full advantage of those to get the word out about why medical research is something that the average person would want to be tracking even if they’re not themselves involved in science. We’re constantly looking at new ways to do that. Certainly on our own website, if you go to NIH.gov you will see evidence of some of the new ways we’re trying to share information with people who are looking for it. Our site is one of the most heavily trafficked in all the world when it comes to people looking for medical information.
Michael Keegan: Well Dr. Collins, as you pointed out today in our discussion in large part to NIH funded medical research, Americans are living longer, healthier lives. However, you also note that science has always been a marathon and not a hundred yard dash. What are some of the major opportunities and challenges your organization will face in the future and how do you envision NIH evolving to meet those challenges and seize those opportunities?
Dr. Francis Collins: Well one big challenge right now is really to be sure that we are creating an environment where those incredibly talented scientists who are our most important resource have a chance to pursue risky, creative ideas, some of which are going to crash and burn but some of which are going to transform our understanding of biology and medicine. My concern is that right now with considerable stress on anything in the discretionary budget that many scientists are feeling that pinch and are therefore a little uneasy about taking risks. I would very much hope that as we get through this national debate about where to place our bets and that medical research will emerge as one of those most valuable kinds of investments and that we will be able to say to a young scientist who is just starting out their lab, yes this is a career path that you can be confident is going to be well supported and that you can chase those ideas that are uniquely creative and expect that even if they don’t always work out, it’s going to be very worth your while to spend your life on this. That’s what we need. We need that sort of stable sense that this is a valued activity. If we have that and we have the talent that I know is chomping at the bit to try out their ideas, we will see, I think an exponential growth in our ability to understand why disease happens and what to do about it to the great benefit of the American public.
Michael Keegan: So one last question doctor, what advice would you give someone who is thinking about a career perhaps in medicine or public service?
Dr. Francis Collins: I would say there has never been a better time in all of history than right now to come and join this enterprise. We are unraveling mysteries that have puzzled us for all of human history. We are poised to take that information to the next level in terms of preventing and treating disease. We have the chance to bring the basic and the clinical aspects of research together in a very tight connection in a virtuous circle. This would be the moment if you are in any way inclined to get involved in a great detective story that has great answers, come and join the biomedical research team. We’ve got stuff for you to do.
Michael Keegan: Well, Dr. Collins, I want to thank you for your time today. This has been an exceptionally insightful conversation, one of the best. But more importantly, I’d like to thank you for your dedicated service to the country.
Dr. Francis Collins: Well you’re very kind to say so. I feel enormously privileged to have the opportunity to stand at the helm of this National Institutes of Health with all that it stands for in terms of the talent that’s here, the dreams that we share and the hopes that we have to give people better lives. I’m grateful to the tax payers that year after year, this is an enterprise that people do see as worthy of support and confident that when the dust all settles in the current debates about where we’re going that this will emerge as one of our most significant national priorities.
Michael Keegan: This has been The Business of Government Hour, featuring a conversation with Dr. Francis Collins, Director of the National Institutes of Health. Be sure to join us next week for another informative, insightful and in-depth conversation on improving government effectiveness. For The Business of Government Hour, I’m Michael Keegan. Thanks for joining us.
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