September 2001 • Volume 7 • Number 9
First, do no harm ...
Genetic counseling: To test or not to test?BY CINDY McCANSE
It's an ordinary day in your practice -- until a patient blindsides you.
"Doctor, I've been reading about these new genetic tests," she says. "I'd like to be tested for Huntington's disease. It killed my father, and I can't stand not knowing for sure if I have it."
Training the trainers
Genetics in Primary Care: A Faculty Development Initiative sprang from a three-year contract to the Society of Teachers of Family Medicine from the Maternal and Child Health Bureau and Bureau of Health Professions of the Health Resources and Services Administration. The National Human Genome Research Institute and Agency for Healthcare Research and Quality co-fund the initiative.
GPC provides genetics training for 20 primary care faculty teams nationwide, with an eventual goal of integrating genetics as a major component of undergraduate and postgraduate-level medical training.
Each GPC program is highly individualized, using a diverse mix of teaching methods. Examples range from presentations during grand rounds to inclusion of clinical geneticists on primary care rounds.
One tool used at the University of Maryland, Baltimore, to stimulate discussion is a series of case-oriented "trigger tapes." The video presentations emphasize the impact of genetic issues on multiple family members.
The GPC program at East Carolina University, Greenville, N.C., uses a technique called the observed structured teaching exercise. OSTE allows faculty members to interact with so-called standardized patients using a case-based approach. It's fashioned after the observed structured clinical exam model developed in 1974.
Provision of reliable Internet resources physicians can search for up-to-date genetic information is a key component of many of these programs.
Visit http://bhpr.hrsa.gov/dm/genpc.html for more information on the initiative.
LOOK BEYOND THE HARD MEDICINE
So now what? What if testing reveals she doesn't carry the gene? Will she feel guilty about evading the diagnosis that claimed her father's life?
And what if she tests positive? How will she react to the pronouncement of that death sentence?
"This (genetic) information has a tremendous potential to harm as well as to help and stands to affect a broad number of family members," said John Lammie, M.D., associate professor of family and preventive medicine at the University of South Carolina, Columbia. Lammie spoke during a presentation at the recent Workshop for Directors of Family Practice Residencies in Kansas City, Mo.
"There's a tremendous amount of uncertainty about what this all means and the possible harms involved," he said. "It's up to us to help guide our patients through an interpretation of genetic testing."
To that end, Lammie and other presenters at the June session described training programs at their respective institutions aimed at educating primary care physicians about the medical, social and ethical aspects of genetics. It's all part of Genetics in Primary Care: A Faculty Development Initiative. (See the box at right for more on GPC.)
DIFFERENT METHODS, SIMILAR FINDINGS
The training mechanisms they described are diverse -- but applying that training during patient encounters has yielded some common observations, the presenters agreed.
"Even well-educated patients are often ill-prepared to deal realistically with, or even understand, the results of testing," observed Niharika Khanna, M.D., assistant professor of family medicine at the University of Maryland, Baltimore.
"One thing we found was that people are actually coming in asking for tests that can harm them," said FP Janice Daugherty, M.D., of East Carolina University, Greenville, N.C. "For example, there's the false reassurance that a negative amnio test for cystic fibrosis can bring. People have a limited knowledge of what probabilities mean. They don't understand that the next pregnancy wipes the slate clean."
In the end, it's the hands-on approach -- a hallmark of family practice -- that stands to benefit patients the most, said Nancy Stevens, M.D., M.P.H., associate professor of family medicine at the University of Washington, Seattle.
"There's genetics culture and there's primary care culture, and they're different," Stevens said. "Geneticists tend to develop an overall, several-tiered pedigree and extend that out. Primary care doctors tend to approach this issue in a tightly focused, highly patient-oriented manner by asking, 'What specific aspects of a genetic approach to this health problem or potential health problem are likely to benefit this patient?'"
FP Report is published by the AAFP News Department.
Copyright © 2001 by American Academy of Family Physicians.
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