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Human Genome Project Head to Step Down

Geneticist Francis Collins moves on after mapping the human genome and seeing a pet project—legislation barring genetic discrimination—become law



Courtesy of NHGRI

National Human Genome Research Institute (NHGRI) director Francis Collins today said he plans to step down from his position on August 1, after leading the organization for more than 15 years and overseeing work on the critical Human Genome Project (HGP). During a press conference held to announce his decision, Collins said that he is proud of his accomplishments and those of his colleagues at the U.S. National Institutes of Health (NIH) but that he wants the freedom to write books and explore other opportunities that are off-limits to federal employees.

He cited the 2003 mapping of the human genome as one of the greatest achievements during his tenure. "It laid the foundation for a fundamental shift in medical care that is personalized medicine," he said, adding that the discovery opened the door for scientists and policymakers to consider the social consequences of science.

This ethics dilemma played a key role in congressional passage of the Genetic Information Nondiscrimination Act of 2008 (GINA), which prohibits health insurers and employers from canceling or denying coverage or hiking premiums based on one's genetic risk of developing a certain disease. President Bush signed the measure into law last week, culminating a 13-year effort. "Having that happen was one of my personal goals while I was here at NHGRI," Collins, 58, said, noting that its passage contributed to his decision to leave, because it provided the assurance he needed that his research would move forward even without him at the helm.

Collins, a geneticist, criticized federal funding shortfalls, which he said were "cumbersome" and  must be addressed if the U.S. wants to continue to be a world leader in scientific research and development. But he insisted that lack of financial support did not play into his decision to step down. "My time at NHGRI has been the most remarkable of my life," he said, after confessing that he was initially loath to join the NIH in 1993. At the time he was a professor of internal medicine at the University of Michigan and an investigator for the Howard Hughes Medical Institute in Ann Arbor.

Alan Guttmacher, deputy director for the past six years, will serve as acting director when Collins leaves. Guttmacher said at the press conference that society has an "historic opportunity" to study the impact of genomics and environmental factors on people and their health. He vowed that NHGRI would continue to strive to make health care truly preemptive.

Collins said he is keeping his options open for the future. Among those he's mulling: writing projects in the area of personalized medicine. He also hinted that he might become a consultant to lawmakers designing health and science policy. He plans to continue working as an unpaid volunteer in his NHGRI lab, where he will hand over the reins his senior investigator Lawrence Brody.

"It's going to be a great loss for NIH," said Bert Vogelstein, a cancer geneticist at Johns Hopkins Medicine, when he heard Collins was resigning. "He's made genomics a focal point of modern biology and biomedical research."

Vogelstein applauded Collins for reaching out to other research groups to form more collaborative efforts during endeavors such as the Human Genome Project and the International HapMap Project.

He notes that Collins, an evangelical Christian, attempted to build a bridge between religion and science in his 2006 book The Language Of God: A Scientist Presents Evidence for Belief. "That's probably one of the most difficult bridges to cross," Vogelstein says, "because of the vast epistemological differences amongst these groups,"

Despite his successes at NHGRI, GINA "was really the end of the beginning," Collins said. Before passage, he and other scientists were concerned that consumers would not take advantage of new genetic tests out of fear that insurers and employers would discriminate against them if they turned out to have genetic risk factors.

"It goes without saying that we have a great many challenges in our country and in our world," Collins said, noting that he hopes there will continue to be a strong voice for science at the table during discussions on issues such as health and disease as well as hunger, poverty, global warming and energy.

Additional reporting by Nikhil Swaminathan

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