Your DNA enters the digital age: Q&A with NIH director

Francis Collins has changed medicine. As director of the international Human Genome Project, he led the first full sequencing of human DNA, the "instruction book" for human life. In 2009, President Obama appointed him director of the National Institutes of Health, the world's largest funder of medical research. He met recently with USA TODAY's Editorial Board. His comments were edited for length and clarity.

Q: What medical breakthroughs are on the horizon?

A: Biomedical research is at this amazing juncture, where questions that we thought we dared not ask a decade ago are now possible to ask and answer. Whether we're talking about neuroscience and the effort to understand how the human brain works; whether it's the ability to completely read out the script of a cancer cell and understand what's driving it to misbehave; whether it is the ability to develop vaccines for infectious diseases like influenza that would not require an annual shot; or whether it's the transformation of one-size-fits-all medicine into personalized medicine. All these things are happening at a prodigious pace.

Q: What will people see coming out of NIH research in, say, the next 10 years that will shock and amaze them?

A: I think they will see the advent of personal DNA sequencing for most of us at a reasonable cost. When we are in need of a prescription, at least for about 120 drugs, our doctors will want to look at that sequence and make sure that DNA predicts a good response to the usual dose, or whether patients would need to have a higher or lower dose or maybe a different drug altogether. We call it pharmacogenomics.

Q: How will that look to patients?

A: If somebody in the next five years or so develops cancer, I think this idea of doing a complete DNA characterization of that cancer will not be something that's restricted to research projects as it is now. It will become the norm because of its ability to predict prognosis and the ideal choice of treatment.

Q: What about the flu?

A: I think in five years, maybe a little more depending on how trials go, we should be close to a universal flu vaccine so that you won't be expected to get your flu shot every season against what's emerging at that point. Instead, there will be a vaccine that produces antibodies that focus on a part of the surface protein that doesn't change, and therefore should work for any season and should also work for that next pandemic, whether it's H5N1 or H7N9 or H whatever. We're a little overdue for the next one, and that's going to be a great source, I think, of reassurance and relief.

Q: In the last decade, AIDS treatment has been a huge success story. Are new advances coming?

A: There is enormous excitement. If you're diagnosed as HIV positive today, your life expectancy is essentially normal as long as you get on the anti-retrovirals and stay on them. But there are reasons to hope that we could come up with a strategy that didn't just keep the virus tamped down to a very low level but actually got rid of it, and there's much research ongoing to do that.

Q: What about a vaccine?

A: Obviously, we've been struggling to develop an HIV vaccine for 30 years. Many people have become a bit fatalistic about whether or not it's ever going to be possible because this virus is so diabolical as it's evolving. But compared with five years ago, there is greater optimism that an HIV vaccine will actually be successful. I think most people are now expecting that we will get there. Now, the timetable — always hard to say — but if you're talking about a five to 10 year horizon, it's not unthinkable at all.

Q: You're known for your role in decoding the human genome. Are there advances building on your work?

A: We're just starting to have the ability now to understand the microbes that live on us and in us, the microbiome. Of the major advances in terms of understanding human health over the last few years, I would rank this very near the top.

Q: Why?

A: This is an opportunity to be able to understand those trillions of microbes that previously were a bit out of reach for us experimentally. Now we can take the census of what's present on the skin or in the mouth or, most especially, in the gastrointestinal tract. It is revealing a lot of interesting aspects of the way in which the microbes within us can help us or sometimes can hurt us. We clearly are dependent on each other; we should be respectful of those microbes because they outnumber us. They are contributing in important ways to metabolism.

Q: How will this affect our health?

A: Recent observations suggest the microbiome plays a very important role in obesity, an important role in certain inflammatory diseases like Crohn's disease and even recently a very compelling story about the microbiome in autism, which might be a very interesting lead to follow up on as we're all trying to figure out what's happening with autism. According to the Centers for Disease Control and Prevention, now one in 68 U.S. children is being diagnosed with autism. It's most certainly not vaccines; that's the one thing we're quite confident in. Clearly, the pool of our own human genes has not changed in the last 20 years to account for this increase in incidence, but something is. Perhaps it has something to do with the way in which microbes have shifted in their abundance based on the use of antibiotics and so on.

Q: Government budgets are tight, and this research takes a lot of money. How are you dealing with that?

A: That is really a cause of great concern for me. If you're out there in some university doing biomedical research, it's NIH that is by far the major source of the support that you're looking for. Traditionally, over the last 40 years, your chance of getting funded was in the neighborhood of 30%-35%. That still meant we were turning away two-thirds of what came in.

Q: And what is that percentage today?

A: Over the last 10 years, as NIH's budget has gradually shrunk, that success rate has steadily fallen, now standing at 16%. That means only one out of six grants gets supported. That's particularly discouraging for young scientists who are just getting started and who after one or two rejections are really beginning to wonder whether they are in the wrong field. We have a serious risk of losing the most important resource we have, which is the creative energies of this generation of scientists.

Q: Do these young researchers have other options to seek funding?

A: Something like 18% of young scientists are now considering moving to another country because we have been cutting back. Some countries are recognizing that this is one of the best investments that they can make both in health and in the economy. The economic arguments here are compelling. A dollar that NIH gives out in a grant returns more than two dollars within a year to the local economy. And yet our budget is getting squeezed more and more. Over the last 10 years, we've lost about 25% of our purchasing power, even at the moment when the opportunities are so good.

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