May 29, 2008 — Francis S. Collins, MD, PhD, best known for his 10-year leadership of the Human Genome Project (HGP), will step down from his position as director of the National Human Genome Research Institute (NHGRI) on August 1. In his announcement, released yesterday, Dr. Collins expressed the desire for "an interval of time dedicated to writing, reflection, and exploration of other professional opportunities in the public or private sectors."
Dr. Collins was appointed director of NHGRI, part of the National Institutes of Health (NIH), in April 1993. He had previously established an outstanding reputation in genetics research by pioneering a gene-finding method, new at that time, called "positional cloning." Using this technique, his laboratory at the University of Michigan in Ann Arbor, often in collaboration with other groups, isolated the genes that caused cystic fibrosis, Huntington's disease, and neurofibromatosis type 1.
In an interview by the Carolina Multimedia Group, Dr. Collins described the Human Genome Project as "an unprecedented effort to get at [the] human blueprint. It is rather audacious, in fact," he said, "to imagine that we might by the year 2005 actually be able to have the entire DNA sequence decoded, laid out in front of us, in a computer database once and for all." Exceeding expectations, and accelerated in part by competition with and contributions from J. Craig Venter, PhD, at Celera, the HGP was completed ahead of schedule in 2003.
Dr. Collins' life rarely followed the status quo. He and his 3 brothers were raised on a small farm in the Shenandoah Valley of Virginia by parents immersed in the arts. His father, professor of theatre at a nearby college, and his mother, who home-schooled Collins through the sixth grade, founded a regional theatre that still presents a summer season of dramatic and musical performances. In recent years, artists and musicians attending the elder Collins' annual holiday party often encountered the director of NHGRI singing and playing his guitar with other guests.
After graduation from a public high school in Staunton, Virginia, Dr. Collins earned his BS in chemistry at the University of Virginia, followed by a PhD in physical chemistry from Yale University. The revolutionary advances in molecular biology in the 1970s spurred his interest in medical school. Dr. Collins attended the University of North Carolina at Chapel Hill, where he earned his MD, then pursued a fellowship in human genetics at Yale. His academic and research career was spent at the University of Michigan until his 1993 appointment as director of the NHGRI, where his predecessor was James Watson, PhD.
Among Dr. Collins' contributions at NHGRI, and a strong factor in his successful leadership of the HGP, was his sensitivity to the social and ethical aspects of genetics research. Early in his tenure at NHGRI, Collins discussed what he saw as the major social, ethical, and legal issues raised by the HGP:
"We need to do something about health insurance.... Somebody...who is at risk for a genetic disease can be thought of as having a preexisting condition and have their insurance taken away. That violates my sense of fairness...and something has to be done about that," he said.
A second issue raised by the HGP was employment discrimination. "There are apparently genes which predispose some individuals to [some diseases] and other not," Dr. Collins said. "Now it's very important to point out that these are not predetermination genes...they are predispositions, and there's much interaction between other things that go in that person's life and their own choices that determine whether or not they actually exhibit that particular behavior."
For a company to decide not to hire a person based on such information "violates the standards of fairness that we would all subscribe to, and something needs to be done legislatively to prevent that," Dr. Collins said.
Privacy regarding information obtained by genetic testing, and the decision to introduce genetic tests into general medical practice, were also important issues for Dr. Collins. He provided continuing leadership in the efforts that culminated only last week in passage of the Genetic Information Nondiscrimination Act of 2008, first introduced to Congress 13 years ago.
Dr. Collins' personal commitment to service has been shown by volunteering (with his daughter) as a medical doctor in Africa. The latter experience is described in his recent book, The Language of God: A Scientist Presents Evidence for Belief (Simon & Schuster, 2006). In explaining his decision to step down as director of NHGRI, he observed, "I may need greater latitude than my current position allows to pursue other potential positions of service without encountering any possible conflicts of interest, whether real or perceived."
Whether these "potential positions of service" are as physician, researcher, writer, or public advocate, Dr. Collins expects to stay involved in the work of his NIH laboratory part-time, as an unpaid "special volunteer." His position at NHGRI will be filled by Alan E. Guttmacher, MD, who will be appointed acting director of NHGRI as of August 1. The search for a permanent director is expected to begin in the near future.
Medscape Medical News © 2008 Medscape
Cite this: Jacquelyn K Beals. Francis Collins to Resign as NHGRI Director - Medscape - May 29, 2008.
