This is old but is also a different perspective.
- I found this and really think these drs need to talk more to their
patients. This disease is so overwhelming at times how can they not
help out the person testing as they put themselves through enough
hell wondering. Read this and make your own case...
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
"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."
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
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 "Training The Trainers"
at the bottom 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?'"
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
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
Visit http://bhpr.hrsa.gov/dm/genpc.html for more information on the