Issue Date: August 4, 2008
Francis Collins Leaves NIH
WHEN FRANCIS S. COLLINS joined the National Institutes of Health in 1993 to lead the then National Center for Human Genome Research (NCHGR), he knew the field of genomics was fated for a transformation???from an academic pursuit to, perhaps, an engine of game-changing medical advances. And in the 15 years since, the successful decade-long government initiative to sequence the entire human genome, which he led, has made it possible for scientists around the world to uncover and understand the myriad connections between genes, health, and disease.
His leadership in the Human Genome Project is just one example of the consequential roles Collins has played at NIH. He also established a division of intramural research at NCHGR in 1993, led the center through its transition in 1997 to an institute—the National Human Genome Research Institute (NHGRI)—and has played a leading part in the NIH Roadmap for Medical Research since its launch in 2003. But after a decade and a half of strong leadership, Collins decided to leave NHGRI to explore other professional opportunities. At press time, he was slated to clear out of his office on Aug. 1.
Prior to his departure from the institute, Collins sat down with C&EN to discuss his tenure at NHGRI, the state of genomics, and his plans for the future, which remain up in the air.
"I seriously don't have a plan," Collins says, making it clear that he's not in any negotiations for his next job. "I would be in a conflict of interest to start negotiating as an NIH institute director. I sit atop an institute that has an annual budget of almost half-a-billion dollars, so there would be some kind of a connection to almost anyone who approached me about the possibility of a position, making it improper for me to talk to them," he explains.
Although Collins has now technically entered what he calls the "white space" of unemployment, NIH is allowing him to continue to lead an intramural research lab at NIH as an unpaid, special volunteer. Keeping this lab up and running just as he has done throughout his tenure at NHGRI is important to Collins because he has graduate students and postdocs who are in the middle of exciting projects. "I wouldn't want to leave them in the lurch," he says.
Collins is fully grounded in chemistry. He earned a B.S. in chemistry from the University of Virginia in 1970 and a Ph.D. in physical chemistry from Yale University in 1974 before obtaining an M.D. from the University of North Carolina, Chapel Hill, in 1977.
"I AM REALLY grateful that I have a background in chemistry," Collins says. "It influences me all the time by encouraging a rigorous molecular and quantitative approach to problems."
Chemistry is also playing a central role in genomics. For one thing, chemistry is at the heart of high-throughput screening techniques designed to develop small molecules to probe molecular processes relevant to diseases. The marriage of chemistry and genomics—or chemical genomics—has the power to catalyze significant breakthroughs, Collins points out.
Procuring the full 3 billion-letter sequence of the human genome—the most visible and audacious goal of the Human Genome Project—has transformed the field of genomics dramatically from what it was when Collins entered it in the early 1970s. At that time, he explains, studying the intersection of genetics and medicine was an academic pursuit with little hope of imminent applications. Now, because of the Human Genome Project, which was completed in 2003, researchers have a database and a set of tools with which to probe the basis of diseases in more detail and begin to develop new therapies to treat them.
What's more exciting, Collins says, is that at least 17 follow-on projects are now under way. "Each one of these projects you could say is equally ambitious to the Human Genome Project but is possible because of technology development and really smart scientists," he notes. "It's a wonderful experience to be able to have had a hand in," he says, adding that he feels a sense of parental pride that so many projects have sprung up.
One follow-on project that Collins is particularly excited about involves identifying hereditary factors in common diseases. "The mysteries that have vexed us for all of human history about why diabetes, cancer, or heart disease runs in families are revealing their secrets," he says.
Collins notes that in the past two years, researchers have reported about 200 well-validated genetic variations that play a role in common diseases. "The results of this project have opened our eyes to what is really going on in terms of disease causation," Collins says. "The results also provide us with a long list of exciting new ideas about preventions and treatment, which is what we most hoped would happen as a consequence of the Human Genome Project."
In addition to the scientific advances that emerged from the Human Genome Project under Collins' watch, a new attitude about open-access models for data sharing has also emerged. Open data sharing helps advance research by getting data to a larger diversity of scientists who can discuss the results and build on them quickly.
The idea is "if you're conducting research that has broad potential to empower lots of investigators—what we call a community resource project—you ought to make the data available immediately, even before publication, with no strings attached," Collins explains. He points to a 1996 data-sharing agreement as setting the standard for openness. The agreement was signed at a Bermuda meeting by researchers involved in the genome project.
NIH has become a big proponent of the open-access model, evidenced, for example, in its mandatory policy on public access of peer-reviewed journal articles (C&EN, Jan. 21, page 10) and in its Roadmap that includes PubChem, the chemical informatics database that raised concern at the American Chemical Society (C&EN's publisher) over its similarity to Chemical Abstracts Service Registry (C&EN, June 13, 2005, page 23).
Collins notes that the PubChem situation took some time to resolve, but adds that he is now seeing a growing willingness to openly share data from researchers in various fields. Collins acknowledges, however, that this openness has limits.
"OPENNESS IS not going to be the case in certain areas of science where intellectual property becomes critical in order to achieve public benefit. And I don't think it's fair to expect individual investigators who are working on a very specific project to adopt this same idea of revealing all of their data before publication," Collins explains. "But for those team efforts that could potentially produce really useful data that people need right away, I think the mind-set is there."
Collins' excitement about openness and the scientific developments with genomics is tempered by his concerns over the current budget crunch facing NIH. Since experiencing a budget doubling between 1998 and 2003, NIH's annual budgets have not even kept up with inflation. This stagnant budget environment has forced Collins to make some tough funding decisions.
"The one really difficult aspect of my last five years here has been the need to say 'no' to investigators who have really interesting ideas because we just didn't have the funds to go around," Collins says. "And now as we contemplate success rates for grants dropping down below 20%," the health of American science is in jeopardy.
"I'm deeply concerned about the consequences for the future of medical research," Collins says, noting that a generation of scientists is leaving the field because they can't get funding. Once gone, he points out, these people won't come back even if the budget situation turns around.
Although Collins is not likely to miss the tough funding decisions or the long hours that being an NIH institute director requires, there are some aspects of his job that he will miss.
"I will miss the ability that the director of NHGRI has to convene some of the brightest minds from anywhere in the world on short notice to brainstorm about some new idea," Collins tells C&EN. He points out that this convening power is one of the strongest assets that an institute director has. For example, he explains, "you can have an idea on Monday afternoon, and two weeks later, you can have people sitting around a table having dropped everything to come and talk about what we should do. That's pretty amazing."
Collins also will miss his colleagues. "I really like the team approach to science that has emerged out of genomics," he says. "Being part of that team and having the chance to lead those teams in terms of social interactions, as well as scientific interactions, has been wonderful. I've had the chance to become not only the project manager, but a good friend to an amazing group of talented folks. And I will miss that."
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