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 The guitar-strumming finale of Francis Collins, M.D., Ph.D., brought people to their feet at the AAFP Assembly/Wonca 2004 keynote address on genomics. To the tune of "Runaway," he led attendees in "DNA," beginning, "I'm a-walkin' through the genes. I don't know what all this means." |
If anyone listening had misgivings that the field of genomics was some dry topic with little application in the real world, those misgivings were laid to rest by crooning keynoter Francis Collins, M.D., Ph.D., Oct. 13. He spoke at the opening ceremony for AAFP's Scientific Assembly and the 17th World Conference of Family Doctors, held Oct. 13 – 17 in Orlando, Fla.
Yes, at the end of his lecture, Collins -- the researcher who led the Human Genome Project, which mapped and sequenced human DNA -- whipped out an acoustic guitar and gamely led more than 6,000 participants in song: "Runaway" rewritten into "DNA."
The importance of knowing one's family health portrait has become one of the outcomes of the Human Genome Project. Collins announced the development of a Web site where patients can enter three generations of their family medical history -- a "paper pedigree," which they can take to their family doctor. The site was scheduled to be launched Nov. 8, allowing time to prepare patients for the First Annual National Family History Day, coinciding with Thanksgiving. After all, family gatherings present a ripe opportunity to learn from relatives, Collins noted.
Many people left Collins' lecture saying they were convinced that genomic information will become increasingly important to the care of patients and that family physicians can and should play a key role in applying genomics in primary care.
In fact, Collins made the case for genomics' relevance to family medicine with a force that had some in the audience murmuring. He encouraged FPs to think strategically.
"The rate of future progress depends not only upon technological advances but upon physician expertise," he said in an interview. "Translation of genomic advances into improved clinical outcomes can only occur if family physicians are well-informed."
All diseases have a genetic component -- a "misspelling" in the body's instruction book, or DNA -- Collins explained. Having knowledge of family history will change the management of disease.
Collins presented a scenario that could play out in any family physician's practice: "Peter D., age 52, comes to your office complaining of fatigue, arthralgias and loss of libido," he said. Many physicians would think "bipolar" and treat accordingly. But family history reveals a brother with congestive heart failure, liver disease and diabetes. A clinical workup shows transaminases mildly elevated, lab evidence of borderline anterior pituitary dysfunction and transferrin saturation of 52 percent. Hemochromatosis is diagnosed; both Peter and his brother are homozygous for the C282Y mutation in the HFE gene.
The keynote speech created good buzz for the AAFP Annual Clinical Focus 2005: Genomics, which Collins plugged during his presentation.
ACF coordinator LeAnn Carl, who staffed the Assembly ACF booth, said that following Collins' keynote, she'd been busy filling requests for information about the program, which will offer online CME about genetics and its relationship to clinical issues.
One person to visit the booth was Robert Christensen, M.D., of Carroll, Iowa, who declared himself "genomically challenged." Although he is retired from practice, he said he could appreciate the implications of Collins' talk and would be able to use the information when former patients came to him for advice. One piece of advice he shared: "We should all be getting a more thorough medical history from our relatives while they are alive."
But some FPs remained only guardedly enthused about how a family health history could be used in family medicine.
"That step from identifying a cluster of disease in the family history to the actual genetic testing is a huge leap," said Maryjean Schenk, M.D., M.P.H., chair of the family medicine department at Wayne State University, Detroit. "This isn't something you can write on the encounter form and get a test."
But nevertheless, she said it's good to get a dialogue started. "It has inspired me to go back to my medical school and look at how we're teaching genomics," she said.
This, no doubt, would be music to Collins' ears.
To reach writer Toni Lapp, e-mail tlapp@aafp.org.
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Copyright © 2004 by American Academy of Family Physicians.