Maria Freire

The Human Genome App

Air Date: October 3, 2015

Maria Freire, President of the Foundation for the National Institutes of Health, discusses revolutionary frontiers in medical research.


HEFFNER: I’m Alexander Heffner, your host on The Open Mind. The sharing economy is obvious to the Facebooker and uber-traveler, but its vast application to future health, specifically to future cures of disease, is comparatively little-discussed. From in-home medical testing to newborn DNA banking and cancer genomic cloud pilots, a more data-rich democratic medicine is already here.

With us to consider its promise is one of the brilliant minds of contemporary science. Immunologist Dr. Maria Freire supports the world’s leading medical and increasingly biomedical research agency. She’s president of the Foundation for the National Institutes of Health. So with the prospect of so-called social medicine, not socialized medicine, let me ask Maria if and how clinical trials, experimental therapies, and precision medicine as it’s called are already the result of our shared genetic data.

FREIRE: Well, it’s in fact an enormously exciting time for medicine and for biomedical research. Because as you said, we’re seeing the interface between information technology, our new understanding of basic biology, and the ability of people and individuals to contribute to their own health and to their own, to their own information gathering. So what we’re seeing is nothing short of revolutionary of all of these forces coming together. Um, I’ll give you some examples. Uh, we have several projects at the Foundation for NIH in which we’re looking at clinical trials, but clinical trials done in a different way. Today we know that cancer for example is not one big monolithic, uh, disease, it is in fact several diseases in one. And so therapies that might work for one group of individuals with one particular type of cancer will not work for another group of individuals with the same kind of overall cancer but genetically different. So, having the ability to do that, having the ability to decide what therapy works for what patient is truly revolutionary.

HEFFNER: And that demands, does it not, a fuller DNA database than we have today?

FREIRE: Well, what, what it demands is the ability for us to really capture all of this genetic data, capture the information we’re actually sequencing and looking at the tumor makeup. And then capitalize on all that information and analyze it. We have enormous amounts of information, the Human Genome Project just opened, uh, an incredibly vast array of new information. The challenge now is what are we going to do with all that information? How do we analyze it and what, what uh, clues does that information give us? But without a doubt, this is in fact an enormous and very powerful tool, and we’re capitalizing it, and we will continue to capitalize on it.

HEFFNER: So in the evolution of medicine, Dr. Freire, how do you process this information as a doctor, as a researcher, and ultimately as a patient? And, and who has, ultimately do you think, the right to that DNA data?

FREIRE: Well, this is um, you know, first of all the, the DNA data and the DNA information, it’s your information right? Your data. So, one of the things that we’re actually doing is we’re actually looking at the patients themselves. The patients are becoming an enormous force in biomedical research. It used to be that the patient was a little bit removed. Now they’re an integral part of the system, and in fact what you’re seeing, it’s, it’s very interesting and quite, quite remarkable really. The patients and patient advocates are helping decide and helping move forward particular areas of disease. And what I find is that these patients are not only courageous but they’re pushing the boundaries forward. They want exploration in that field. I think it started pretty much, um, in the ‘80s with the AIDS epidemic, in which the AIDS activists took that very seriously and demanded that the world pay attention to that disease. And we see it today with people trying to look for ways in which they can modify the, what drugs are going to be developed, what diagnostics need to be in the forefront. We see parents for example with children with diseases that band together and come together because if it’s a rare disease, the putting together the information and the strength and the robustness of that information will help inform how these drugs are developed. So what we really are seeing is a transformation of the biomedical landscape which includes these patients and who they are and what they need done for their particular disease.

HEFFNER: Is there knowledge that we ought to possess from birth that would be instrumental in taking the results of the Human Genome Project and extrapolating from them the data that we need in order to build, um, towards cures for …in an individualized way that you’re describing?

FREIRE: So I envision a world in which we will, first of all as you know the sequencing of, of your genome now is, it’s still relatively expensive for an individual but it is doable, it’s not hundreds of millions of dollars. It’s a thousand dollars or two thousand dollars, et cetera. And um, I would envision that people would be able to use that information to determine things about their, their, the way they live their lives, the way they need to be aware that they have a particular issue that their, they need to confront, environmental stimuli, et cetera. The, the power is not only for the individual though, the power is as a society we can look at trends, we can look at where, you know, we are finding changes and modifications, so it is not only an individual but it really is a common good and it’s an important, pathway forward. What that also informs however is um, how we need, you know, the process for developing therapeutics or the process for developing vaccines or the process for developing diagnostics can and is predicated many times on, on the need. And so when you have this data, when you have this information, you are able to set a path forward in how and when a drug can be developed. So we would like to develop many drugs for many diseases, but if we don’t have the basic biological information that will allow us to figure out the path towards the cure, it’s very, very difficult. So, knowing and understanding the, the basic biology is, is critical. Um, I can give you example after example of, for example, biological markers that would be incredibly useful in shortening the time for developing the disease… the, the timeline for, for developing a drug for a particular disease, and that’s,


FREIRE: That’s revolutionary, that’s fa—that’s really remarkable.

HEFFNER: And we were talking a bit before about Ebola and the next pandemic. Do you think that this data can serve us, um, in particular in efforts to prevent, to avert, um, whether it’s the next flu pandemic or the next major outbreak that inevitably will occur?

FREIRE: I think infor—any information that we can gather on how to tackle infectious disease is critical. So there are a couple of aspects that are particularly important with infectious diseases and, and in the case of these pandemics, right? We don’t know where the next one is going to come from. We need to make educated guess, we, we do that every year with flu for example, where do we think the flu vaccine, what kind of strain we’re going to have to be developing. But what’s, what’s really important here is to be able to figure out what are the biological markers that are going to tell us early whether a particular vaccine or a particular therapeutic is going to work. So we use biological markers all the time. A biomarker for example is fever. You know that if you have a fever, there’s probably an infectious uh, agent in your body and you’re reacting to something that, that’s making you, uh, have a fever. Or cholesterol, you know, is a biomarker for, for uh, potential, um, heart problems. So, figuring out biomarkers at the molecular level that allow us to say yes, that is a good target for a drug and that is a good target for a potential development, and if that biomarker either goes up or goes down depending on what you want it to do, means that the drug is working. If we can figure that very early on, then yes, we would be much better prepared for the next pandemic, because we would be having a platform from where to start in order to develop the next medicine.

HEFFNER: And those bio—biomarkers were more visible to the American public during the Ebola crisis because they saw how certain, uh, people who were infected were being cured and some perished.

FREIRE: Exactly, yes.

HEFFNER: There are efforts underway to be able to not to request an Uber but add an application to your phone so you can pinch blood.


HEFFNER: I had one of your colleagues in the medical field on this show, Dr. Bill Frist, who is a board member of Theranos, and recently the organization got the approval from the FDA to initiate in a beta mode um, at their various clinics in Arizona in particular they have a great number of them, uh, how do you see the future of testing on an iPhone?

FREIRE: I think it’s incredibly exciting, particularly when you can take it to the field. So it’s not only important for you being able to test the iPhone but we’ve been thinking about using that in, in the field in the case of infectious diseases going back to, to our conversation a minute ago. You know, can you cough into your cellphone and get a read at the other end, for example? Be able to transfer information very quickly, biological information very quickly to be able to make an, an early diagnosis? And I think that’s, that’s all incredibly, uh, exciting and, and possible. An—another wonderful example of how the field is changing has to do with mammography. Any woman that’s ever had a mammogram can tell you it’s one of a relatively, uh, unpleasant experiences [LAUGHS] that you can undergo, there’s now a new, uh, technology, a company, small company again like that one called SureTouch that has a, a mouse kind of technology that if you um, put it on the breast and paint the breast, in fact can detect hardness. So you see a peak if you think that there may be a potential, uh, tumor growth there. Non-invasive technology that matches and links again the information technology with the, the, the sens—the sensors and the, the …

HEFFNER: And that’s, that’s important right, because,

FREIRE: I mean, yeah.

HEFFNER: You don’t want, in the words of Andrew Keen, who’s been a cultural observer, you don’t want the cult of the amateur to be the predominant, um, determination of medical outcomes and decisions, so how do you provide at the foundation and through the work of the NIH the foundational knowledge that will be a companion to those platforms?

FREIRE: Well see, this is what is, this is what the Foundation for the NIH does and does so well. Because what, science, now very, very, very little science is done as an individual sitting in a lab with, with very little communication elsewhere, right? So science now is a contact sport. You have enormous amounts of people that are involved. You need the people that know information technology, the people that know the basic biology, the people that know the, the uh, application, the knowledge of the companies that know how to put products into, into use, and the regulators. So what we’re able to do is bring together all of these experts into a room and say all right, how do we move from the idea stage to the implementation stage. So not only do we get these really powerful ideas to come to the table and have all the right, uh, constituents or, or groups, including patients by the way as part of the discussion, but then how do you implement it? Talk is wonderful, but translating that talk into action and specific, um, specific activities is, is what we do best. So for example in the case of biomarkers, uh, we, we have um, the Accelerating Medicines Partnership, AMP, that was started uh, almost two years ago now. And it’s a very exciting… ten pharmaceutical companies with uh, disease, uh, foundations, with the NIH, with the FDA, and with the Foundation for NIH at the table looking at potential biomarkers for Alzheimer’s, for um, type two diabetes, and for um, uh, lupus and uh, you know, autoimmune diseases, so again, you bring all this talent to the table. You put all the information out there and say, where are the gaps? What can we do to make sure that we go from here to here and that the result is actually going to be a biological marker that we can work on?

HEFFNER: One of those results that Americans yearn for is a cure to cancer.

FREIRE: Right.

HEFFNER: Now you described how a single cure, there is no magic bullet … that would be a fiction.

FREIRE: Right.

HEFFNER: However, a lot of money, billions, trillions of dollars have been invested in that campaign. And I don’t think that there’s a general perception that it has achieved the widespread success, so correct that if it’s wrong, but at the same time what is it going to take?

FREIRE: I think that the, that the, the cancer field has actually been amazing. What we know now about cancer is, is revolutionary. We know that it is not, as I said, one monolithic disease. We know mechanisms and ways of preventing some of these cancers. We know that our immune system is perhaps one of the best ways of actually getting rid of potential cancers in our body. And what’s happening in the cancer field, I mean I think that’s one of the, the most amazing and remarkable uh, advances in certainly when the, the war of cancer was, was first uh, initiated. So yes, I think we were naïve at the time where it was said we can cure cancer in ten years or twenty years or what have you, but surely where we are today with cancers that actually can, can become chronic diseases as opposed to a death sentence and you can treat it, as a chronic disease as some of the cancers, I mean that’s unprecedented.

HEFFNER: I think that you’re suggesting when you allude to lifestyle choices that the air we breathe and the food we digest is just as much integeral,

FREIRE: Oh yes.

HEFFNER: To, to the outcomes. Is that, is that enough understood by the American public?

FREIRE: Well I would certainly hope that uh, there’s a one to one correlation that they understand that tobacco is a problem. I mean if people haven’t sorted out the direct link between tobacco and lung cancer then you know, we really need to do a better job of educating the public. I mean you know that, that preventing smoking is the best thing you can do to prevent lung cancer. I mean this is, this is just not even in discussion these days. So is it understood by the American public, is it understood by the world? Probably we need to do a better job, but that, that this is something that we’ve known and that we’ve been working on is, uh, I think it’s one of the big successes is the prevention,


FREIRE: In that sphere.

HEFFNER: The National Human Genome Research Institute within NIH, um, on its website, uh, “…since the completion of the Human Genome Project, this institute has funded and conducted research to uncover the role that the genome plays in human health and disease…” And for those of you watching, a genome is an organism’s complete set of DNA, uh, including all of its genes. So and a lot of times it’s scrambled and you have to unscramble it, right? That’s, that’s the work that uh, you and fellow scientists embark on. I’m wondering in the final analysis, when we look at the Human Genome Project today, what’s the next,

FREIRE: What’s the next Human—[LAUGHS] What’s the next thing?

HEFFNER: What’s the next step, what’s the next step that, that uh, that the research is funding now?

FREIRE: So the question I think has several parts. The, the first part is what is the power and has been the power of the human genome? And I think we’ve seen it already and we see it. For example, um, we just spoke about cancer and that it’s not one disease, right?


FREIRE: And we wouldn’t have known that had we not been able to figure out what these individual cancers are and what the tumor, the, the genome of the tumor is. So that’s one very direct application. The, the other direct application is uh, you know, sometimes we’ve been testing medicines and we say well, only ten percent of the population react to this medicine so the medicine is no good, but the truth is that the medicine is very good for that ten percent, it just doesn’t attack the other ninety percent. So…

HEFFNER: And have we reached a point where we’re overcoming the administrative hurdle that would prevent a medicine from being in wider distribution because it can’t target the…

FREIRE: Oh, yes, so if you’re talking about the regulatory process that says well ten percent is not good enough, I think that’s part of this whole revolution is that the, the regulators are saying wait a minute, you know, maybe there’s a different way of tackling this. Maybe this drug is not successful for a hundred percent of the population but it’s very successful for that subset, so how do we as regulators, you know, think through this issue so that we are in fact moving forward the, the different potential solutions and the different potential medicines? The issue then becomes economic, frankly. Because the development of drugs, whether it’s for an indication like tuberculosis which is essentially a disease that affects many, many poor people around the world, or for a cancer therapeutic, it’s an enormous cost. And so how do we reduce the cost and shorten the time and still have effective medicines at the other end? But I want to—


FREIRE: [LAUGHS] Well, so one of the issues, we’ve talked about it already is the biomarkers, right? So early detection, figuring out whether or not that drug is gonna work, doing it early so that we can either throw it aside or moving it forward, having much more clever ways of doing the clinical trials. Um, figuring out how to adapt the trials so that we know that we’ve moving forward and we’re getting the right therapeutic to the right people. Uh, innovative ways of, of um, manufacturing. Innovative ways of testing. So we’re working very hard to try to reduce this time—ten to twelve year period to a much shorter period of time so that we can be more nimble and try and reduce the cost. But I, I wanted to go back to the issue of, of the human genome and where I think the next…


FREIRE: Um, revolution is going to happen. I think the human genome revolution is still going to, and the impact that it has is, is going to continue to be felt. Um, and not only by the way in, in human medicine. We have veterinary medicine, we have plant technology, we have enormous amounts of, of other fields that are being touched by our ability now to sequence the, the genomes of, of uh, the bacteria or the plants or et cetera. But for me, and this is my personal opinion of um, what the next big challenge is is the brain. We know very little about brain processes, we know very little. We are, in, in the brain I think where we were in the 1950s with semiconductors, right? So look at what’s happened since, look at all the, the massive development in information technology. Our knowledge of the brain and our knowledge of brain diseases, of Alzheimer’s, of situations that affect cognitive, um, impairment, traumatic brain injury, et cetera, it really is wide open and, it’s very exciting…

HEFFNER: Where is the genomic potential in the brain arena?

FREIRE: Well the, well we have um, [LAUGHS] I don’t know that it’s necessarily genomic potential, but understanding these diseases that may or may not be of genetic origin, may or may not have a direct link, but our understanding going back to the basic biology, understanding of the basic biology is where we’re going to see the, the big changes and the modifications.

HEFFNER: Dr. – While we still have you here, I just am curious, do, how do you distinguish or is it important between when you put the eu- in front of genetics, eugenics, because that makes people nervous.

FREIRE: Yeah. How do you mean?

HEFFNER: Well, it makes people nervous that we’re gonna collect data and, and suggest that certain genes are…


HEFFNER: Inferior or superior…


HEFFNER: And, and that in what is already a, a culture rife with um, sectarian differences, someone of which are visible, some of which aren’t, that that would only further inhibit…

FREIRE: Well that would be a, a tragedy wouldn’t it if we go down that path.

HEFFNER: We’ve seen it, we’ve seen it go down that path,


HEFFNER: And we’re seeing it in the Middle East go down that path.

FREIRE: It’s um, when the Human Genome Project first started, it uh, recognized that there was an ethical component that had to be associated with that and a program that is uh, you know, a very important program called ELSI was formed along with human genome particularly to address these issues and these questions. Um, and we’ve seen the importance of having that discussion not only as a society but as scientists, uh, as well in, in …as part of the, the evolution of science and it’s not only about the human genome, it is also about the implications of some of these technologies, right, gene drives and, and uh, a lot of the modifications that we can now do. It comes as part and parcel of the, the medical enterprise, and I think and it’s a very important um, discussion to be had and it’s a very important area to, to be explored, and we do that. Um, we are working right now on uh, with the National Academy of Sciences to explore some of these issues in genetically modified organisms, for example. So I understand where you’re going with that question and I’m not being naïve, but it’s certainly something that we take very seriously and that we think through and as scientists, we have a responsibility to make sure that that’s the case.

HEFFNER: And, and finally, in terms of those ethics, how do you ensure that you’re safeguarding this knowledge?

FREIRE: Well one of the things, every time we embark, at the Foundation every time we embark in a process, every time we embarked in a, in a project, we make the rules of that engagement very, very clear. So we abide by the strictest and highest ethical criteria. We bring the right people to the table to make sure that the information is shared. We make the information available, if you’re one of our projects, the information is widely disseminated and broadly available. Under limited circumstances we may, um, provide a window for publication, et cetera. But indeed I think shining a light on these issues is, is critically important and we ensure we do that.

HEFFNER: And thank you for doing that here today.


HEFFNER: Maria, we appreciate your time.

FREIRE: Thank you, my pleasure.

HEFFNER: And, thanks to you in the audience. I hope you join us again next time for a thoughtful excursion into the world of ideas. Until then, keep an open mind. Please visit The Open Mind website at to view this program online or to access over 1,500 other Open Mind interviews. And do check us out on Twitter and Facebook @OpenMindTV for updates on future programming.