Ardent Scientist, Savvy Advocate

On most days, Francis S. Collins, director of the National Human Genome Research Institute, coordinates with genome centers around the world and evaluates ethical, legal, and social implications of the project that made him famous. But Collins reserves this day in late July for the passion that brought him to the institute in the first place: research to identify which of the human body's 35,000 genes causes Type 2 diabetes. Assembled around a table in the vaccine center of the National Institutes of Health, a half-dozen researchers discuss DNA samples from tral pool makes people fairly homogeneous at the genetic level. Collins rests an elbow on the table and a chin on his hand. He leans forward, his brow furrowing with a question, his blue eyes darting over data tables. In this room of simple chairs and bare walls, Francis Collins--trailblazing scientist, cartographer of the human genome--meets Francis Collins, explorer who knows he still lacks much knowledge. You can almost see the lanky teen of 35 years ago who adored chemistry and physics for their logic and order but hated biology for its unpredictability. Odd, then, that the accomplishment for which Collins is globally known, the Human Genome Project, has so much to do with the science of life. A scant seven months ago, Collins and J. Craig Venter, the rival scientist who led a private-sector effort at the same time Collins was leading a public consortium effort, announced they had all but finished mapping and sequencing the human genome,1 opening up one world of medical and genetic possibilities and another world of ethical dilemmas. Francis Collins, who gained recognition from his work on the Human Genome Project, believes that genomics will transform the medical world. When Collins looks back on that race between him and Venter, hyped by the media, it strikes him as silly. The world apparently viewed this historic accomplishment as the end of a pursuit; Collins sees it as the start of a revolution in diagnostics, preventive medicine, and therapeutics. In his writings, Collins insists that much remains to be done, and the notion resonates when--after meeting with researchers--he addresses visiting high-school science students. "If I set up a little booth and said 'Scrape your cheek with this little swab and I'll take it back to the lab and I'll tell you if you're at risk for Alzheimer's disease or diabetes,' would you want to know?'' Collins asks the fidgeting youngsters. "The real interesting stuff starts now, where we ... figure out how those genes interact with each other to make a cell, or a tissue, or an organ, or a person." Whether he continues to advance such "interesting stuff" in his current position or at a higher level remains to be seen. Collins' name has been raised as a possible NIH director. John Mendelsohn, president of M.D. Anderson Cancer Center in Houston, is said to top the list for a permanent replacement for Harold E. Varmus, who vacated the position in late 1999. Mendelsohn declined to comment to The Scientist. Who He Is, Isn't Anyone who has read even a little about the 51-year-old Collins probably knows about his monkish haircuts and bad ties. But Collins cannot be stereotyped. He is not the ethereal scientist with the quirky behavior, or the brooding recluse who lacks social grace. As he rises to his full 6 foot 4 inches from his seat at his desk on the fourth floor of the NHGRI, Collins greets a visitor with a warm handshake and light banter. A Jimmy Stewart quality to his voice disarms listeners with colloquialisms like "oh, phooey." The scientist, who rides a Honda Nighthawk 750 around the NIH grounds, talks about his conversion from atheism to Christianity after reading C.S. Lewis. Then it's back to the passion, and without a trace of patronization, he explains his belief that chromosomes 20 and 22 harbor a susceptibility gene for adult-onset diabetes. "What is so incredible about Francis is his ability to articulate these issues in a very, very common language to all people he comes across, whether they're a 10-year-old, or a patient," says Robert J. Beall, the Cystic Fibrosis Foundation president who worked with Collins to find the cystic fibrosis gene.2, 3 Collins grew up on a small farm in Staunton, Va. His parents, who loved the arts and ran a summer theater, home-schooled him until the sixth grade and sent sent him to the local Episcopalian church "not to learn theology, but to learn music." Collins is a pianist and guitarist who won a standing ovation this year after following his University of Virginia commencement speech with a ditty about the double helix. "He was a really bright kid who was very funny, and he fit in very well despite the fact that he was smarter than anyone else," says Richard Cullen, the former Virginia attorney general who was Collins' lab partner in high school. Upon graduation as a 16-year-old valedictorian, he studied chemistry at the University of Virginia and then joined Yale University's doctoral program in physical chemistry. There, Collins hooked up with friends excited about applying the tools of DNA to figure out how life works. "This just opened up a whole new world to me," Collins says. "I had never appreciated that biology is wonderfully satisfying from an intellectual ... basis. Particularly genetics, because it was so elegant, so principle-based, so digital, so mathematical." Collins took an odd path for a physical chemist when he enrolled in medical school at the University of North Carolina, but he applied his precise mathematical and quantitative training to the biological sciences. He used this training when he joined the faculty of the University of Michigan in 1984, where he worked on methods of crossing large stretches of DNA to identify disease genes. Then, the 'Real Rush' In 1993, Collins became director of the National Center for Human Genome Research. He had found his life's work--a branch of science that appealed to his sense of order, his desire to fight disease, and his longing to experience what Collins calls "this real rush ... when you discover something that nobody knew before." In a few decades, Collins believes, genomics will have transformed the medical world. "The consequences for the practice of medicine are likely to be profound," he recently penned. "Genetic prediction of individual risks of disease and responsiveness to drugs will reach the medical mainstream in the next decade or so."4 Many observers credit Collins for addressing the ethical issues that accompanied the mapping of the human genome. He has spoken out against human cloning and discrimination against people with a genetic predisposition for a disease. Collins also is seeking federal legislation that would "prohibit insurance providers from increasing premiums or determining eligibility based on predictive genetic information."5 "As technology to analyze DNA has become increasingly widespread, insurers and employers have used the information to deny workers access to health care and jobs," Collins writes.6 "How we will come to terms with the explosion of genetic information remains an open question." If Collins does get the nod to become NIH director, friends and colleagues say he has the scientific breadth, moral compass, and political acumen for the job. And at least two Washington insiders say he would be an obvious choice. Having tripled his institute's budget to $300 million, he has learned which strings to pull to get money. Still, says one colleague who asked not to be named, "I'm not sure he has the patience for it." David Beier, the Clinton administration's point person for the Human Genome Project, helped Collins navigate a town where the idealistic can run headlong into the politic. The two wrestled over Clinton's stand on genetic discrimination, but Beier credits Collins for "recognizing that in policymaking, the views of others have to be taken into account." Collins himself is philosophical about the NIH directorship: "One does wonder from time to time [about] future possibilities." References 1. E. Russo, "Negotiating the human genome," The Scientist, 15[4]:16, Feb. 19, 2001. 2. J.M. Rommens et al., "Identification of the cystic-fibrosis gene--chromosome walking and jumping," Science, 245:1059-65, 1989. (Cited in more than 1,525 papers, according to the Web of Science, ISI, Philadelphia) 3. J.R. Riordan Jr., "Identification of the cystic-fibrosis gene--cloning and characterization of complementary DNA," Science, 245:1066-72, 1989. (Cited in 2,725 papers, according to the Web of Science) 4. F.S. Collins, V.A. McKusick, "Implications of the Human Genome Project for medical science," Journal of the American Medical Association, 285[5]: 540-4, Feb. 7, 2001. 5. Z.E. Karanjawala, F.S. Collins, "Genetics in the context of medical practice," Journal of the American Medical Association, 280[17]:153-4, 1998. 6. F.S. Collins, K.G. Jegalian, "Deciphering the code of life," Scientific American, 281[6]:86-91, 1999.

Ardent Scientist, Savvy Advocate

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