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| ASSEMBLY EDITION • ORLANDO, FLA |
 The crowd at the AAFP Assembly/Wonca 2004 keynote address on genomics Oct. 13 appreciated the wisdom of Francis Collins, M.D., Ph.D., the head of the National Human Genome Research Institute. But it was his guitar-strumming finale that brought people to their feet. To the tune of “Runaway,” he led attendees in the chorus: “I’m a-walkin’ through the genes. I don’t know what all this means. I wonder why -- why, why, why, why, why -- I’ve got a C and you’ve got an A -- what does that say? Amazing DNA!” |
If anyone attending the AAFP Assembly/Wonca 2004 had misgivings that the field of genomics was some dry topic with little application in family medicine, those misgivings were laid to rest Wednesday by crooning keynote speaker Francis Collins, M.D., Ph.D. Collins, director of NIH's National Human Genome Research Institute, gave his address during the opening ceremony of the Scientific Assembly and the 17th World Conference of Family Doctors.
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. He gamely led more than 6,000 participants in song: "Runaway" rewritten into "DNA."
But even aside from the rousing finale, many people left the 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 told attendees. Having knowledge of family history will change the management of disease.
Collins presented a scenario that could play out in any FP'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 Annual Clinical Focus 2005: Genomics, which Collins plugged during his presentation. Materials are available in the ACF exhibit at Booth 1542 (in the AAFP Marketplace) on genetics as it relates to such diseases as breast cancer, Alzheimer's disease and bipolar disorder. Collins also promoted other resource centers with exhibits at the Assembly: the National Coalition for Health Professional Education in Genetics, Booth SCI-009 (http://nchpeg.org), and the National Human Genome Research Institute, Booth 1265 (http://www.genome.gov/).
 Following the keynote on genomics, speaker Francis Collins, M.D., Ph.D., chats with a journalist as audience members, including AAFP President Michael Fleming, M.D., center, wait to speak with him. |
ACF coordinator LeAnn Carl on Thursday said she'd been busy filling requests for information about the program, which will offer online CME about the topic 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 can 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," she said.
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."
This, no doubt, will be music to Collins' ears.
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Copyright © 2003 by American Academy of Family Physicians.