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A push to use the human genome to make medicine more precise

President Obama introduced a new plan to create a database of genetic information of a million Americans in order to better tailor medical treatments for groups of patients. Science correspondent Miles O’Brien interviews Francis Collins, director of the National Institutes of Health, about the potential of precision medicine, privacy concerns and political roadblocks.

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    The president laid out a plan for a new biomedical research initiative today, one aimed at finding targeted treatments for individuals. It's called precision medicine, or more frequently referred to as personalized medicine.

    The plan calls for the National Institutes of Health to develop databases featuring genetic information of one million Americans. Their genes would be studied, along with their medical histories, so that researchers, private industry and the government could help tailor treatments to better match groups of patients.

    President Obama is asking for more than $200 million in his new budget for the project. He spoke of that promise — or the promise that an approach brought for Bill Elder, a 27-year-old who is taking a drug to fight cystic fibrosis.


    About 20 years ago, Bill was diagnosed with cystic fibrosis. But it turns out Bill is one of 4 percent of cystic fibrosis patients whose disease is caused by a particular mutation in one gene.

    And, a few years ago, the FDA fast-tracked a new drug target — specifically targeting that mutation. And one night in 2012, Bill tried it for first time. And just a few hours later, he woke up knowing something was different. And, finally, he realized what it was. He had never been able to breathe out of his nose before.

    Think about that. So Bill's now 27. When he was born, 27 was the median age of survival for a cystic fibrosis patient.


    Our science correspondent spoke with the director of the NIH, Dr. Francis Collins, in the White House Briefing Room today. That's Miles O'Brien.


    Dr. Collins, thanks for being with us.

    DR. FRANCIS COLLINS, Director, National Institutes of Health: Nice to be here.


    I suppose, when you look at the broad course of history, from the time we were drawing blood and putting leaches on people to today, medicine has always gotten more precise. But when we talk about precision medicine now, what are we really talking about?


    We're taking about the idea that we're all different individuals, and the best way to keep us healthy or to treat us when we're sick is to take account of those individual differences.

    Whether that's an understanding if you have cancer what exactly is going on in your cancer cells, or whether if it giving you the right drug at the right dose for you, let's understand how to do that better. We have tried to do things like that over decades, but we haven't really had the tools. The time is now to really make that opportunity become a reality.


    It's been about a dozen years since we officially unlocked the human genome. We have been waiting for some magic cures, and they have been slow to come.

    Has Moore's law, has the computer revolution gotten us to a point where we can all know exactly what we're made of?


    The human genome is a pretty complicated instruction book.

    I think most of us involved in reading out those three billion letters, which we managed to do a dozen years ago, were aware it was going to take some time to build upon that for human clinical benefit. And it's not surprising that it's taken some time to get to the point we are now.

    But a lot of things have happened now to make this the moment to really push hard. We have, after all, the ability to determine your genome or mine for, you know, about $1,000.


    That's better than $4 billion.


    Yes, right.


    Three or four billion.


    So, we have dropped that faster than Moore's law for computers. DNA sequencing is coming down at a prodigious rate.

    We have other ideas about how to figure out how to run large-scale studies. Electronic health records have come along, making this more possible than it would have been. We have all kind of interesting new technologies, using mobile phones to assess people's physiology, their behavior, their environmental exposures.

    We can kind of put all that together and really on a very large scale begin to collect the data we need to understand how to keep people healthy. That wasn't there 12 years ago. It's starting to be there now. It is time to make this push.


    Do scientists, in their enthusiasm for all this, put too much hope into genetic defects as the source of disease? There are many other factors that make us have cancer, for example. There's all kinds of externalities, right?



    And I hope it comes across clearly that precision medicine is not just about your DNA. It's also about your environmental exposures. It's also about your health choices in terms of diet, smoking, exercise, all of those things. This is supposed to be a holistic way to look at the individual, identify all of the aspects that are contributing to health or disease, and optimize those.

    But we don't have enough data yet to know right now how to tell you exactly what those conclusions ought to be. By putting together, which is part of this effort, a cohort of a million or more Americans and encouraging them to be not just subjects — or not just patients, but participants, full partners in this effort, we aim to find out answers to those questions, which we have not really had the chance before.


    All right, but if you do the math on this, there's not quite enough money to do what you're hoping to do here.

    You know, certainly it's a lot less than was spent on the Human Genome Project. But just to get all these people you would like to have in this cohort have their genomes sequenced would cost more than this.

    So, do the math for me.



    So, the proposal by the president in the budget that is just being announced is $215 million for fiscal year '16. That's the start point in what we hope will be a many-year enterprise. The cost of sequencing genomes has been coming down. We're not done with this drop in the way in which the cost has been plummeting.

    And over the course of the next three to four to five years, the cost is expected to come down below $1,000. And so we're not going to be able to sequence a million complete genomes this year. But play this out over four or five years, it starts to sound like we could get there.


    The federal government coordinating, viewing, understanding all our genomes makes some people nervous. There's a privacy component to all of this. How do you address that?


    Privacy is critical. And that's another reason why this program will only work if the people involved are volunteers and they are at the table as the whole design of this program is put together.

    And there is a lot of designing still to do. What's being announced today is written in fairly broad terms. To get the specifics down, we have work to do. There are always of handling the privacy issues. And, again, we need lots of input and participation by those who are going to be donating their data. But many surveys have been done. People are interested in doing this. We have experience in smaller cohorts about how to handle the privacy issues.

    This will be important, but I think it can be managed effectively.


    All right, lastly, NIH has had a tough string of years for funding. Is this going to be different on the Hill?


    It has been a tough 12 years, during which we have lost about 25 percent of our purchasing power for research, as budgets have been very tight.

    I actually think medical research is not a partisan issue. Over the course of decades, this has been an area that both parties have agreed is important. We have had a struggle. Budgetarily, I think Congress, seeing an opportunity of this sort, will be very interested, regardless of party.

    And, certainly, from my perspective, that's about as it should be. This is about all of us. It's about Americans. Who wouldn't want to see something happen that would improve the likelihood of all of us being able to live long and healthy lives


    Dr. Collins, thank you very much.


    Thanks. Nice to be here.

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