This file photo shows National Institutes of Health Director Francis Collins testifying before the Senate Appropriations Committee's Labor, HHS, Education and Related Agencies Subcommittee  in Washington, D.C.

This file photo shows National Institutes of Health Director Francis Collins testifying before the Senate Appropriations Committee's Labor, HHS, Education and Related Agencies Subcommittee in Washington, D.C.

Last January, President Barack Obama announced a precision medicine initiative. The idea: develop treatments tailored to an individual based on their genetics and other personal characteristics. Those who support the effort, still in its early stages, say it could revolutionize medicine. A major part of the initiative is using medical records and genetic data of one million volunteers to learn more about treating disease. The National Institutes of Health has just released final plans on how to take on this major project. Francis Collins, head of the NIH, joins Diane to talk about the future of precision medicine.

Guests

  • Dr. Francis Collins Director, National Institutes of Health.

Transcript

  • 11:06:53

    MS. DIANE REHMThank for joining us. I'm Diane Rehm. Earlier this month, the National Institutes of Health released a plan for creating and managing the medical records and genetic data of 1 million volunteers. It's part of a larger government initiative called Precision Medicine an individualized approach to treating disease. Here to talk about how personalized medicine works and the challenges and promises of building a volunteer database, Dr. Francis Collins, director of the National Institutes of Health.

  • 11:07:33

    MS. DIANE REHMAnd throughout the hour, I'm sure many of you have questions, comments. You can join us on 800-433-8850. Send an email to drshow@wamu.org. Follow us on Facebook or Twitter. Dr. Collins, how good to see you again.

  • 11:07:54

    DR. FRANCIS COLLINSIt's always wonderful to be here with you, Diane.

  • 11:07:56

    REHMThank you. Talk about what Precision Medicine actually is.

  • 11:08:04

    COLLINSThe idea here is to get beyond one size fits all. And an awful lot of what we currently do in medicine, unfortunately, is stuck with that paradigm 'cause it's the best we can do. But when you go to the doctor with some request about how to maintain your health or how to be treated for some illness, oftentimes the treatment or the recommendation you get is based upon sort of the average response of the average person.

  • 11:08:34

    COLLINSI don't know any average people. And yet, that was pretty much where we had to go 'cause it was all we could do. Now, there are exceptions. If you need a blood transfusion, you want to be sure that that was actually the same blood type as you. If you go to get your eyeglasses corrected, you're probably gonna want to be sure they're actually designed for your particular nearsightedness or astigmatism. But an awful lot of medicine is still in that one size fits all space.

  • 11:09:04

    COLLINSWe want to try to change that by making everything that we do in medicine, whether it's your health maintenance or whether it's the management of an illness, more appropriate for you, taking account of your genetics, your environmental exposures, your lifestyle, your behavioral decisions, your diet and so on because, I think, there's very good evidence that if could do that, the outcomes would be better.

  • 11:09:30

    REHMDr. Collins, it sounds wonderful, but you're going to need or you've asked for a million volunteers to participate in this in order to gather this genetic information and understanding what's going on in these individuals. How are you doing to get them?

  • 11:09:59

    COLLINSI think this is a really interesting time to propose something of this sort. Ten years ago, probably this would not have been practical or affordable and I'm not sure people would have been willing to sign up. But there's a great deal of growing interest, I think, in the general public in finding out more about their health. Being part of this national study of health with a million or more participants is going to be quite the experience in terms of finding out information about yourself, participating in this national effort to try to improve the health of our nation.

  • 11:10:35

    COLLINSIt won't be for everybody, for sure, but the surveys we have done and we've already carried out a fairly systematic look across the country, has told us that maybe a little more than half of the people who are asked said, given what we told them about what would be involved, they'd be interested in signing up. And that's true not just for the people who are traditionally reading the health pages, but that's a fairly systematic view across the country, including different ethnicities, different geography, different socioeconomic status.

  • 11:11:08

    COLLINSPeople are interested in this stuff.

  • 11:11:09

    REHMAnd different ages, I gather...

  • 11:11:10

    COLLINSAnd different ages.

  • 11:11:12

    REHM...you're looking for.

  • 11:11:13

    COLLINSYes.

  • 11:11:14

    REHMStarting at a minimum of what age?

  • 11:11:17

    COLLINSWe want to cover all of the ages so this will include the elderly and children. It'll be complicated in terms of exactly how we do the consent process for children, but we do think children should be included in this. And we want this to be a snapshot of our highly diverse, fascinating country.

  • 11:11:36

    REHMAnd how do you take that snapshot? What is required on the part of these volunteers?

  • 11:11:45

    COLLINSSo what we would like to have from everybody who participates -- and by the way, I should emphasize we're not ready for people to sign up today, but we will be some time in 2016 so next year. This is coming. We would want to be able to have a individual who provides some information about themselves, questionnaires about their lifestyle, their diet and so on.

  • 11:12:07

    REHMI bet it's a long questionnaire you've gotten on...

  • 11:12:10

    COLLINSWell, we're gonna try not to overwhelm people.

  • 11:12:11

    REHMYeah, okay.

  • 11:12:12

    COLLINSBut we do want to know what's the story. We would want to get a blood sample and a urine sample to be able to do biological measures. We would want access to their electronic health records with their permission with a promise of privacy being maintained because that will have a lot of information about their medical experiences. And we would want them to agree that they're in this not just for a one-time encounter, but to be followed over the course of months or years because that's where a lot of the really useful information starts to accumulate.

  • 11:12:44

    REHMSuppose you had a volunteer who already had an underlying condition, for example cystic fibrosis or something grappling with the aftermath of polio or even AIDS. Would you want those individuals within?

  • 11:13:06

    COLLINSAbsolutely. So we want everybody who's interested to take part of this and that will include people who have illnesses because lots of us do. Now, we also want healthy people and we're going to track them over years and see are there predictors of how they stay healthy 'cause we don't know nearly enough about health. We know a lot about disease. We tend to study that. We don't necessarily study the factors that determine wellness and we would like to know more about that and this is a way to do that in a systematic fashion.

  • 11:13:37

    REHMAnd would you also, along the way, be treating disease that might develop?

  • 11:13:45

    COLLINSSo we have to be clear. This is a research study. We're asking people to participate in research. We are going to give them information back about themselves, including a head's up that there might be an action you need to take. Hey, your blood pressure actually is out of whack here. Your cholesterol needs attention. But we're not going to be the doctor to these individuals. We will count on them to share that information with their regular provider if an action needs to be taken.

  • 11:14:10

    REHMAnd how long will you follow them?

  • 11:14:13

    COLLINSYou know, that's a great question because we don't know what the value of this million strong cohort study is going to be, but I think the value will only grow over time and we're going to want to be doing this for a long time and ask people to sign up for the long run. I mean, look at the Framingham study, which is...

  • 11:14:31

    REHMThat went on and is still going on.

  • 11:14:33

    COLLINSIt's still going -- right. Started in 1948, it was a cohort study and it was focused particularly on cardiovascular disease and it enrolled about 25,000 people. We're talking about something at least 40 times bigger and focused on virtually all diseases. But the lessons from Framingham about the value of this kind of a study and how it accumulates over time are likely to apply here. Maybe even more so.

  • 11:14:57

    REHMSo what is the technology that has allowed this to come to reality?

  • 11:15:06

    COLLINSYou know, it's several things. It's kind of this wonderful coming together of technologies from several perspectives. Certainly, the electronic health record is one of those. If you had to try to put together a study of a million people with paper records, it would be hopeless or you'd have to have such an enormous team of people, it would be unaffordable. So having electronic health records that have diagnosis and lab tests and medication lists is going to help a lot in terms of being able to follow people over time. That's one.

  • 11:15:38

    COLLINSThe laboratory aspects of this, particularly the ability to do measures of genetics have come such a long way and the human genome project, I will proudly mention, had something to do with that. And we do expect that we won't, at the outset, be able to read out the complete DNA sequence of these million people. That's still not quite affordable, but it will become so 'cause the costs just keep coming down and we will get a pretty good snapshot of the genetics of each participant early on, but not the whole picture. That will come with time.

  • 11:16:11

    REHMAnd how much does the whole genetic outline cost versus a small genetic snapshot?

  • 11:16:22

    COLLINSRight. So as snapshot, which will allow you to look at a couple million places in the DNA, you can do that for about $50. Whereas the complete genome now is a little over 1,000, a big difference. But it's coming down. It will be affordable during the course of this study.

  • 11:16:38

    REHMAre people doing that a fair amount these days?

  • 11:16:43

    COLLINSYes. Oh, yeah. And there are certainly companies that offer this kind of DNA analysis for ancestry while 23 In Me, the company that was offering this to tell you something about your health got in a little bit of a pickle with the FDA, but they're working through that. People are interested in this information and this would be one of the ways that I think people would want to participate. They'll get that kind of feedback about their own genetic risk factors.

  • 11:17:07

    REHMWell, one clarification, none of this research will use fetal tissue, I gather.

  • 11:17:17

    COLLINSIt will not. Let's be really clear about that 'cause I know that is a topic of enormous concern...

  • 11:17:18

    REHMYeah. I think it is really important.

  • 11:17:21

    COLLINS...for many people right now. Let me say other technologies, though, that are, I think, going to be relevant here that also make this the right time to do this and that's measuring environmental exposures, which have always been challenging and many of what we have done in the past have been based upon sort of questionnaires or measure that might not have been relevant to that person. More and more now, people are developing these sensors that you can actually wear that record your exposure to, say, pollution and you can use that in a way that will be quite informative.

  • 11:17:55

    REHMDr. Francis Collins is director of the National Institutes of Health. We're going to take a short break. When we come back, your phone calls, your email. I look forward to hearing from you.

  • 11:20:02

    REHMAnd if you've just joined us, Dr. Francis Collins is here. He is director of the National Institutes of Health. We're talking about a new and large government initiative called precision medicine. It's an individualized approach to treating disease. Of course, lots of challenges and great information ahead. We've got lots of emails, lots of phone calls. A question from Twitter: I'm sure you've heard this many times. Great idea, says the Twitter, but can the director talk about the safety of giving my records to feds, when I have all new credit cards because of the OPM hack?

  • 11:21:02

    COLLINSYes, we have heard that question and understand it.

  • 11:21:04

    REHMI'll bet you have.

  • 11:21:06

    COLLINSBelieve me, I understand it, too, because my identity got hacked at that same moment.

  • 11:21:09

    REHMReally?

  • 11:21:10

    COLLINSYeah.

  • 11:21:11

    REHMReally.

  • 11:21:12

    COLLINSI'm part of the government database and I don't know who's looking at -- my information's not that interesting. But they're looking at it. So I totally understand the concerns that people have. And I can tell you that we have involved in this the best security experts that you can imagine in terms of how to set up this database so that it is not vulnerable to hackers. But I can also say that, in this current climate, for me to sort of say to you -- I can tell you 100 percent guaranteed that there could never be that kind of event -- it would seem not to be very realistic, given all the other things that have happened. We will do everything we can to protect that information. But people who sign up will need to recognize that there is a small chance that some of their health information might be derived by other individuals and those who find that unacceptable would probably decide not to sign up.

  • 11:22:05

    REHMAnd speaking of signing up, Shelly says, can you tell me if there's a place to sign up so we can be alerted when the study does start next year? She says, I'd like to sign up.

  • 11:22:23

    COLLINSAll right. All right, we've got somebody lined up here. And I think we'll have a lot of such folks. Right now, the place you can go is www.nih.gov/precisionmedicine, just one word, no spaces, precisionmedicine, run all those letters together. So www.nih.gov/precisionmedicine. That's the website where we're going to try to keep all the information about what's happening here current. And when we do get ready for people to volunteer, you will find it there. We will also have a big communication campaign so that people in the country will know that the time has come. We obviously don't want anybody to be caught without hearing about it, if they might have been interested in participating.

  • 11:23:05

    REHMAnd, of course, we'll put that on our website as well so people can find it. Once again, www.nih.gov/precisionmedicine.

  • 11:23:23

    COLLINSRight.

  • 11:23:24

    REHMAnd another question from Twitter: Will the database be made available to law enforcement?

  • 11:23:35

    COLLINSActually, we are strongly opposed to that notion, because people are going to be giving information about themselves with expectation it's to be used for health. And there are protections like certificates of confidentiality that are intended to be used for that purpose.

  • 11:23:51

    REHMWhat do you say, Dr. Collins, to some critics who say that there are limits in what the genes can teach us about both treatment and prevention of disease?

  • 11:24:07

    COLLINSI totally agree. And I hope people understand, this is not just a genetic study, although genetics will be part of the information we collect. But it'll be much more detailed than that, about environmental exposures, about lifestyle, about diet, about all sorts of other features that play out in terms of whether someone is healthy or suffering from an illness. The genetics is just a part of that. Another thing we're going to try to take advantage of is the development of all of these mobile health measures of somebody's current status. I'm currently wearing both a Fitbit and an Apple Watch, trying to sort of see how these...

  • 11:24:42

    REHMThat Apple Watch, pretty expensive, Dr. Collins.

  • 11:24:45

    COLLINSOh, I've got the lowest part of the price range here. This is like 300 bucks as a present from my wife. So, thank you, Diane.

  • 11:24:52

    REHMGood. Good.

  • 11:24:53

    COLLINSSo we do think though that these kinds of measures, which have just come along fairly recently and there's a proliferation of these applications, could be very useful. I mean, I find this useful in terms of giving me feedback about my level of exercise. But we haven't really tested these in a broad, real-world situation to see, do they in fact help people's health outcomes?

  • 11:25:17

    REHMOkay. So let's just say, I volunteer.

  • 11:25:22

    COLLINSYou're welcome to do so.

  • 11:25:24

    REHMHow much time are you going to need from me?

  • 11:25:29

    COLLINSWell, not a whole lot because we understand everybody is really busy and you don't want to turn this into your full-time job. So there would be questionnaires, relatively simple, straightforward to fill out. We would need to get a blood sample. We would figure out a way to tell you where you could go most easily to have that obtained. And we'd want simple measures like height, weight, blood pressure. And then we would stay in contact with you. And we would want to be sure you knew what was going on with the study. That it isn't one of those things where you never hear again. You're going to be hearing regularly, usually by email or over your phone, what's the progress.

  • 11:26:06

    COLLINSAnd when we have results about you, specifically, that we think you might want to know about, we'll be giving you that information. You'll be part of this big, one-million-strong family, but we won't try to be intrusive, we'll try to be informative.

  • 11:26:20

    REHMSo how often would blood tests be needed? How often would urine samples be needed?

  • 11:26:27

    COLLINSYeah. We haven't fully decided what that schedule should be. And it will depend on the person and the particular medical conditions they're facing and their age. So all of that's going to have to be worked out in a more individualized way. We certainly want a initial blood and urine sample from everybody, but the frequency will be somewhat individualized.

  • 11:26:46

    REHMI gather you've already got some places ready to go.

  • 11:26:51

    COLLINSYes. Thank you for bringing that up because we actually believe this is going to be a big boost to getting this started. There are health-provider organizations that have already started these kinds of projects and have gotten consent from their participants to have blood samples and electronic health records included as such a cohort effort. Kaiser Permanente has such a thing. Geisinger Health Care, Mayo, Marshfield, Intermountain.

  • 11:27:18

    REHMNot Blue Cross as yet?

  • 11:27:20

    COLLINSNot in the same way.

  • 11:27:21

    REHMHmm.

  • 11:27:22

    COLLINSI mean, they obviously follow a lot of people. Just putting the ones together that have already enrolled people, it's very much possible we could get most of a million in that space. We'd need to go back to them, of course, and say, Are you willing to be part of not just Kaiser's program, but this national precision medicine program? And some would say no, some will say yes.

  • 11:27:44

    REHMI gather you really, really want to get to underrepresented groups.

  • 11:27:51

    COLLINSWe do. One possibility is to take the folks who are already involved in the Veterans Administration Million Veteran Program, the MVP -- 416,000 people signed up for that. But particularly, we also are thinking about working through the community health centers, the so-called federally qualified health centers, which are funded by HRSA, a government agency that oversees that.

  • 11:28:19

    COLLINSThey follow more than 10 million people. And those folks tend to be stable in terms of getting their health care from those centers. And they're interested in research but there hasn't been a lot of research carried out in that space. And I think this could be a great opportunity to reach out to those who are not in necessarily going to be enrolled at Kaiser or Geisinger but who would be interested in taking part.

  • 11:28:41

    REHMYou know, I hate to bring this up, but I'm going to anyhow. I think people today are extraordinarily mistrustful of government...

  • 11:28:55

    COLLINSMm-hmm.

  • 11:28:56

    REHM...generally speaking. Given that kind of distrust and the kind of experimentation that was done in years past on human beings -- and I'm thinking of...

  • 11:29:13

    COLLINSTuskegee.

  • 11:29:14

    REHM...the Tuskegee experiment.

  • 11:29:16

    COLLINSSure.

  • 11:29:17

    REHMI mean, there is a certain level of mistrust that aren't you going to have to get beyond?

  • 11:29:27

    COLLINSI'm glad you brought it up, Diane. Because I think it is a serious issue and a legacy that we cannot neglect to consider. And we've come a ways over the decades in terms of recognizing the harms that were done and resolving never to do those kinds of misuse of research projects again. But it doesn't necessarily mean that everybody is willing to recognize that this is a safe place to go. I was reassured by the survey we did this summer, which included people from underrepresented groups, including African Americans who traditionally, based on that Tuskegee experiment, have been particularly wary of government research and I understand why.

  • 11:30:11

    COLLINSAnd, yet, the response was in fact quite gratifying.

  • 11:30:14

    REHMHmm.

  • 11:30:15

    COLLINSNot that different in terms of the potential for taking part compared to other groups. I think we need to earn that trust. We need to be absolutely sure, as we enroll people, that they know what they're getting in to and that we treat them as partners. That's really important. These are not patients, they're partners. They're participants, they're not patients.

  • 11:30:38

    REHMI still want to know how you are going to use my information.

  • 11:30:47

    COLLINSMm-hmm.

  • 11:30:50

    REHMYou will take a blood sample periodically. You will take a urine sample periodically. You'll check blood pressure. Then will you do anything active toward me in this study?

  • 11:31:11

    COLLINSSo we will carry out this kind of genetic analysis. We will basically, with the blood sample, look at other potential biomarkers to see if there's an indication there of something that might predict health or illness. We'll strip off all the identifiers that say, this is Diane Rehm, as we do this very large-scale analysis of a million people, trying to look for correlations between what we've found and what's happened to you. And then, as we learn something that we think you would want to know, we'll tell you. And we'll keep you posted all along about the overall conclusions of this study. But if we find something specific about you, we'll be sure to tell you that as well.

  • 11:31:52

    REHMOn the other hand, finding something that is genetically worth reporting doesn't necessarily mean that my genes indicate I will get sick.

  • 11:32:12

    COLLINSExactly. And that's the thing about all of the genetic findings for common illnesses, is that they're not predetermining, they're predisposing. They change the odds a little bit but not all that much. And we will want to be sure, if you want that information, that it's couched in those terms. And we have, I think, by now learned how to do that so that the information doesn't come across as meaning more than it should. And we will ask you, how much of this information do you even want to know about?

  • 11:32:40

    REHMYeah. Yeah.

  • 11:32:41

    COLLINSAnd I think some people will say, you know, tell me my cholesterol and my blood pressure, and the rest of it, don't bother me. And there will be some people saying, well, you know, tell me things that you think might have some relevance, even if it's a small effect. And there will be some people say, I want it all. Give me my complete genome sequence. I'll figure out what to do with it.

  • 11:32:59

    REHMHave you had your entire genome sequence done?

  • 11:33:04

    COLLINSNo. No, I have not.

  • 11:33:05

    REHMYou have not?

  • 11:33:06

    COLLINSI have not.

  • 11:33:07

    REHMI'm surprised. Why not?

  • 11:33:11

    COLLINSYou know, I'm not sure what I would do with it right now. There's still so much we don't know about how to interpret those...

  • 11:33:17

    REHMYeah. Yeah.

  • 11:33:18

    COLLINS...three billion letters of the human genome DNA sequence. I've had a snapshot, this sort of simple version that looks to see where the variations that we think might have some correlation with some disease risk. And I actually got influenced a bit by that, because I found I was at a higher-than-average risk for diabetes. And I'm 35 pounds lighter as a consequence of getting motivated about that information.

  • 11:33:44

    REHMGood for you.

  • 11:33:46

    COLLINSI should have done that anyway, of course. But it was a wake-up call.

  • 11:33:50

    REHMAnd you're listening to "The Diane Rehm Show." We've got lots of callers. I want to open the phones now, 800-433-8850. First to Martin in Middletown, Md., with a really good question. You're on the air, sir.

  • 11:34:13

    MARTINHi. Thank you very much for taking my call.

  • 11:34:15

    REHMSure.

  • 11:34:16

    MARTINIt's a absolutely fascinating topic. I'm curious to know what the guest's thoughts are and plans are for investigating mental illness and how much of the genome is known in relation to that and how much possibly the correlation of your questionnaires might relate to that? And I'm willing to sign up and I could probably coerce or cajole a couple of my family members into participating. And also wondering if some of that is considered too taboo to discuss?

  • 11:34:58

    COLLINSThat's a great question. And I absolutely don't think it's too taboo to discuss. I actually believe that this program may be particularly valuable in sorting out mental illness, which continues to be a difficult area, just in terms of figuring out the diagnosis so many times. We really don't have the kind of molecular understanding of bipolar illness or schizophrenia that we would like to -- there are things happening there. Take schizophrenia, where there's now more than a hundred genetic risk factors that have been discovered just in the last three or four years. But they don't entirely fit together yet in a story that we can make sense of. So we very much want to see mental illness included.

  • 11:35:44

    COLLINSAgain, I recognize that that means there's particular sensitivity about privacy and confidentiality and we will make every effort to be sure that information is safely protected. But we would want you and your family members and other people that you can encourage, not necessarily cajole, but encourage to take part because we want to have that information -- we want to have information about substance abuse too. And that's obviously also going to be very sensitive but very important because it's such a problem in this country.

  • 11:36:12

    REHMSo you would like members of the same family...

  • 11:36:16

    COLLINSYeah.

  • 11:36:17

    REHM...to be involved?

  • 11:36:18

    COLLINSAbsolutely. And I think, particularly if we're talking about enrolling children, which we would like to do, it would be a lot more sensible if the parents were also joining in with the kids as opposed to having the kids out there by themselves.

  • 11:36:31

    REHMSo are you going to try to get people from every state in the union?

  • 11:36:38

    COLLINSAbsolutely. This ought to be available to any American who wants to take part. I do say American. There are projects like this in a few other countries. The United Kingdom has a big project, the UK Biobank. There's a project like this in Estonia. There's something going on in China. We would want to be sure that we are connected with those and learning from each other. But this is the American project.

  • 11:37:01

    REHMAnd are you interested in any specific disease? Or are you looking for a broad range?

  • 11:37:13

    COLLINSWe're looking for a broad range -- again, a snapshot of the country. Although I should say, we've talked entirely here in this conversation about this million-strong cohort. There's another part of the Precision Medicine Initiative which is focused specifically on cancer and aims to try to, with people who already have cancer, to get better treatment.

  • 11:37:33

    REHMDr. Francis Collins. He's director of the National Institutes of Health. We're talking about a new initiative called precision medicine.

  • 11:40:02

    REHMAnd welcome back. My guest is Dr. Francis Collins, the director of the National Institutes of Health. We're talking about a new initiative announced by President Obama last January for precision medicine. The idea is to develop treatments tailored to individuals based on genetics and other personal characteristics. And Dr. Collins is talking about gleaning one million volunteers to participate in these studies.

  • 11:40:53

    REHMHere's an email from Victoria in Rochester, New York, who wants to know, who's going to pay for blood and urine samples and any other tests, including X-rays?

  • 11:41:05

    COLLINSSo a good question. This is going to be a project that's going to cost money, and basically I'm happy to say that there is broad enthusiasm in the Congress, in both parties and in both houses, to support this. People really get this as a moment for America to do something, to really learn in a transformational way, how do you keep people healthy, and what happens when disease strikes, and how do you manage it best.

  • 11:41:32

    COLLINSSo both the House and the Senate appropriations subcommittees, who have marked up their budgets for this coming year, have put down $200 million to initiate this precision medicine initiative, $70 of that for the cancer program that I just briefly mentioned and $130 for the cohort. That will clearly need to grow over time in order to support a project of this magnitude, but we do think that will be the main source.

  • 11:41:56

    COLLINSNow I might say, when you have a million people who are part of this longitudinal cohort, and they're all -- given consent to be re-contacted if something comes up that they might want to know about, they can also be re-contacted to see if they're interested in some other follow-up study. And it's a study that might be run by a university or even by a company, saying we have seen that you might be interested in research. Here's a study we're thinking of running. Are you interested?

  • 11:42:24

    COLLINSAnd you could see how efficient that could make future research, as compared to what we do now.

  • 11:42:30

    REHMI'm happy to hear that the Congressional subcommittees have approved this money. We're headed toward budget reconciliation. Are you concerned that even though you're on the verge of bringing in a million people that this money may not be there?

  • 11:42:53

    COLLINSI have to be concerned. I am optimistic because of this enthusiasm, which I have heard virtually from everybody on the Hill that this is a project they want to see happen so that even if we ended up with a year-long continuing resolution, which I hope we won't, they would allow something like an anomaly, which is the term of art here, in order to get this project started. But obviously we would have to stop in place if, after another three months or so, no funds were made available for this project, and we'd have to stop and wait. And that would be a terrible disappointment, a tragedy for our country.

  • 11:43:30

    REHMDr. Collins, they're talking about a continuing resolution that would run out in December.

  • 11:43:39

    COLLINSThat's right. I'm fully aware. Yeah, nobody should plan on doing anything that the government's going to support on December 12 because who knows where we'll be. We narrowly seem to have missed a shutdown threat this time, and I can't tell you how troubling a shutdown sort of threat is to me as the NIH director. When we went through that two years ago, the harms that were done, the money that was wasted, the patients who were turned away from our clinical center here in Bethesda who came to NIH as their last hope, and we had to tell them they had to go home, I never want to do that again.

  • 11:44:14

    REHMHere's another question. Will the patient information be made available to Medicare and other insurers? Could it be used against the patient?

  • 11:44:26

    COLLINSWell, the good news there is the Genetic Information Nondiscrimination Act, which was passed by both houses and signed by President George W. Bush in 2008, prohibits the use of this kind of information in terms of discrimination against individuals. So in terms of that risk, I think that has been dealt with. I should say, though, that people who decide to go through this kind of study need to look closely at other kinds of potential discrimination, life insurance, for instance.

  • 11:44:58

    COLLINSThere is no prohibition against life insurers basically asking and using information about you if they think maybe your rating would change, and people should think about that. I would tell you, though, that being part of this study, again, all your personal identifiers will be stripped off, and that information is behind a firewall. So unless somebody hacked into it, they would not know.

  • 11:45:19

    REHMAll right, to Fairfax, Virginia. Hi there, Bob, you're on the air.

  • 11:45:25

    BOBThank you for taking my call.

  • 11:45:26

    REHMSure.

  • 11:45:28

    BOBI had a question. When I was at the Justice Department, I served on a working group that was involved with the national children's study, and one question that came up was whether private groups would be able to ask NIH to add questions or to engage in additional work as part of the study, and then they would pay for that. I'm just curious as to whether or not that issue has come and whether that is being looked at as a possible way of funding some expansions down the road. Thank you.

  • 11:46:03

    COLLINSThat's a good question. I mentioned a minute ago that while we don't expect private groups to be adding questions at the outset to the way in which we initiate the study that going forward, if there are groups that would like to ask participants in this million-strong cohort to take part in their research program, they might be considered for that purpose. And they'd have to of course pay for the costs of that, and people would have to decide whether they want to take part or not.

  • 11:46:36

    REHMThe brain would be a fascinating part, I would think, of this whole study.

  • 11:46:44

    COLLINSOf course.

  • 11:46:46

    REHMAnd as we know, the incidence of Alzheimer's is growing in this country as the country ages.

  • 11:46:56

    COLLINSYes.

  • 11:46:57

    REHMDo you believe there may be genetic markers to discern whether an individual is likely to develop a disease like Alzheimer's or Parkinson's?

  • 11:47:14

    COLLINSYes. And it's a great question, Diane. I do think -- we already know for Alzheimer's disease there is a genetic risk factor. It's called APOE-4. If you one copy of that, your risk goes up about three-fold. If you have two copies, one from each parent, your risk goes up about 15-fold.

  • 11:47:36

    REHMBut how do you know if you have that?

  • 11:47:38

    COLLINSThat is determined by a genetic test, and right now, in fact, we've already started a small study, and I'd love to make it bigger, identifying people who are in that very high risk category by a genetic test who are currently entirely well and seeing what happens if we offer them, in a therapeutic trial, one of these new treatments that actually reduces amyloid in the brain, the idea being that we can probably do a better job of treating and preventing Alzheimer's if you do so early, before people have already showed symptoms because by the time symptoms appear, you've already lost an awful lot of your component of neurons.

  • 11:48:19

    COLLINSIf we had this million-strong cohort going, and we would know how many people were in that high-risk category, we could approach them and say, are you interested in that kind of study, and if so, let us know, and we'll follow up with you and see what could be done.

  • 11:48:36

    REHMTo Quinn in Harrisburg, Pennsylvania, you're on the air.

  • 11:48:42

    QUINNHi, thank you for taking my call.

  • 11:48:43

    REHMSure.

  • 11:48:45

    QUINNI have several questions, most of which have already been answered. But my remaining question has to do with the electronic health records. I'm a physician and a lifelong patient. I'm quite aware, both from studies that have been done, as well as my own experience, that there unfortunately are some significant errors in the electronic health records. So I'm curious as to what safeguards are in place to ensure the accuracy of the electronic health records for the participants in the study.

  • 11:49:13

    COLLINSThat's another great question, and we are all aware of, that while electronic health records have been a really substantive advance, there are also many downsides in terms of inaccuracies, in terms of problems with interoperability, where you can't get this health record and that health record to talk to each other.

  • 11:49:33

    COLLINSWe would certainly expect to be pushing the idea that every participant in this cohort study should have access to their own electronic health records, because many people still don't, and the opportunity therefore to survey them and see if there are errors in place. And most of the vendors for electronic health records do tell you that if you find an error, you are allowed to tell them so, and they're supposed to correct it. So it might be an opportunity for transparency that is not always made available to participants.

  • 11:50:05

    COLLINSI actually think that having this very large research study might be one of the best things that could happen to getting our American electronic health record system straightened out because it will be a very visible opportunity to see what's working and what isn't and try to fix the things that aren't.

  • 11:50:24

    REHMAll right, and to follow up on that, let's go to Myrtle Beach, South Carolina. Hi Ken, you're on the air.

  • 11:50:32

    KENHi Diane, thank you for taking my call.

  • 11:50:35

    REHMSurely.

  • 11:50:36

    KENDirector, a related question to that, I'm actually quite involved in some university activities and things, working on precision medicine. We are stymied to a great extent by the lack of openness in the vendors' electronic medical records. They work on a closed-system basis and contractually we can't even get at and use the data to develop many of the very interesting decision support system ideas that people have, and I'm wondering what NIH is doing to force those vendors to not only -- interoperability is one thing, but the first step is to make those systems open.

  • 11:51:15

    COLLINSAnother great question. Yeah, we're quite concerned about that, as well. One of our most important partners in this project is the Office of the National Coordinator for Health IT, and they do have the authority over vendors to insist upon this kind of access capabilities. I recognize that that has not always been the case, and your sense of being stymied is one that many people have felt.

  • 11:51:43

    COLLINSOne of the goals that we have is to actually empower participants, again, to have complete access to their own record. And once they have it on their iPhone or their laptop, they can decide who to share it with, the so-called blue-button option, which exists now in the VA and which I believe ought to exist for all of us, where you push the blue button, and you get your record, and you decide where to send it.

  • 11:52:07

    REHMKen, thanks for calling. I want to hear about some of these new approaches for treating cancer and specifically the immunologic approaches. A friend of mine had cancer and has been treated with this approach. Tell me how it works. Just fascinating.

  • 11:52:35

    COLLINSThis is one of the most exciting breakthroughs of the last couple of years, although it's built upon decades of research, much of it, I might say, carried out by Steve Rosenberg at NIH, who's been working on immunotherapy for cancer for a very long time and many people going oh, that's never going to work. Well, look now at where we are.

  • 11:52:55

    REHMYeah.

  • 11:52:56

    COLLINSThe recognition that the immune system really is capable of recognizing tumor cells, but tumors are very clever in basically shutting it down, paralyzing that immune system to their own benefit. The cancer cells want to paralyze the immune system. But we've figured out how to unlock that with such things as various antibodies that basically release the checkpoint, as well as actually training your immune cells, taking them to school, teaching them what they ought to go after and then feeding them back to the patient to attack the tumor.

  • 11:53:33

    COLLINSPresident Carter, you know, with Stage 4 melanoma, what treatment is he getting? Immune therapy because that is our most promising approach for melanoma, for leukemias and lymphomas.

  • 11:53:44

    REHMAnd basically what you're saying is you're using the body's own defense system to cure itself.

  • 11:53:54

    COLLINSExactly, exactly, and by unleashing the immune system, you basically are also getting it ready if that cancer tries to evade that and develop some new pathway. The immune system is now fired up, and it's watching for that. So this has led to some dramatic outcomes.

  • 11:54:11

    REHMJust fascinating, and you're listening to the Diane Rehm Show. Let's -- after -- ah, let's go to Tampa, Florida. Eileen, you're on the air.

  • 11:54:27

    EILEENHi.

  • 11:54:28

    REHMHi.

  • 11:54:29

    EILEENThank you. I have a family history of what we call the family crud that has turned out to be an autoimmune mitochondrial disorder, and we now have a group of college girls that all have the same thing, and they've been through hell up to -- won't name names but major clinics in Minnesota and Maryland and nightmares. And these girls have been told that they had to see a psychologist and everything, and they're now doing well, and they're now lifetime very sick.

  • 11:55:11

    EILEENBut I'm hoping this kind of study will help identify maybe these girls and women who have been told for years that they're somatic and that their complaints of all these weakness, fatigue, pain and things maybe can be identified genetically a little earlier, before they get really sick with kidney and all these other really major disorders. And I'm wondering if you can mention how because this seems like a great opportunity to identify these, everything from lupus, Sjogrens, MS and multiple mitochondrial disorders early.

  • 11:55:48

    REHMSure. All right.

  • 11:55:49

    COLLINSSo thanks for the question. I'm loathe to try to weigh in on what's happening to the folks you mention, although it sounds like it's been really very difficult for everybody. But I do think you're on to something, that the idea that we have the opportunity to follow closely over time a very large number of people, some of them are going to have conditions that currently medicine is not very good at diagnosing or treating, and by collecting this kind of data on large numbers and having lots of researchers able to dig through it, trying to discover answers, we might have a better shot at that.

  • 11:56:20

    COLLINSI should have said, the way this is set up, we want to be sure that any qualified researcher who has an idea and who is able to maintain the confidentiality and the privacy of the data will have access to this. We're going to empower all the bright brains out there to make discoveries using the information from these million folks.

  • 11:56:37

    REHMAnd final question from Jeff, who says, if I volunteer, will I have access to my DNA sequence data, epigenetic data or any other data my samples produce?

  • 11:56:54

    COLLINSWe would basically offer to all the volunteers the chance for you to decide. Make your preferences known. How much information do you want to get back? And if we get to the point where your complete genome sequence has been determined, and you want it, okay, you can have it.

  • 11:57:12

    REHMDr. Francis Collins, what a pleasure to have you here.

  • 11:57:18

    COLLINSIt's always a pleasure to be here with you, Diane.

  • 11:57:20

    REHMThank you, thank you.

  • 11:57:21

    COLLINSYou run a great show.

  • 11:57:22

    REHMJust fascinating stuff. Thank you all for listening, I'm Diane Rehm.

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