When you think about what you've inherited from your parents and grandparents,
you might think about the color of your hair and eyes, the shape of your nose
and height. What you generally don't think about is the information in your
parents' or grandparents' DNA.
You should. It could save your life. Thanks to a relatively new disease
prevention strategy, a deeper look into your family history can provide
information to help stave off a life-threatening illness.
Consider Sally, a young woman who knows that her family history puts her at high
risk for breast cancer because both her mother and grandmother died from the
disease. But what Sally may not know is that inheritable forms of early-onset
breast cancer can also increase her risk for ovarian cancer.
Genetic testing could reveal that Sally has the BRCA gene mutation associated
with breast and ovarian cancer. Working with a genetic professional, she could
then take proactive steps to try to prevent the cancer and save her life.
A genetic professional, such as a medical geneticist or genetic counselor, is
trained to help interpret family medical pedigrees, explain information about
genetic tests, and offer emotional support for both the individual and family.
A genetic professional, in consultation with Sally's physician, could help her
decide if she should, for example, proactively have her ovaries removed.
Ovarian cancer is the fifth leading cause of cancer deaths for American women.
Available screening tests are unreliable and ovarian cancer is extremely
difficult to diagnose based on symptoms alone. So doctors now stress that early
diagnosis must rely on the clinical judgment of the doctor based on full
exploration of the patient's symptoms and possible known risk factors, including
a history of the disease in the family.
To help patients and physicians better understand the importance of a family
medical history in diagnosing and preventing disease, the American Medical
Association (AMA) has developed a new booklet entitled "Family
Medical History in Disease Prevention" that is available online at and
is downloadable for free. The booklet also contains a pocket guide that clearly
outlines how to develop your own family medical pedigree.
"A family medical pedigree is one of the most powerful genetic tools
available to a physician," says AMA President-Elect J. Edward Hill, M.D., a
family physician from Tupelo, Miss. "Disease prevention starts with your
family medical history. That's why a portion of the AMA's Web site has been
set-up to help explain family medical pedigrees, along with other issues related
to genetics, to both patients and physicians."
The AMA's Web site provides a great place for patients and physicians to start
their research. The site offers easy-to-understand educational material on a
variety of topics for people not familiar with genetics. The Web site also
details ethical issues related to genetic testing and explores current trends in
"Perhaps the most relevant use of family health history today is in the
delivery of preventive medicine," says Maren T. Scheuner, M.D. of the CDC's
Office of Genomics and Disease Prevention. "A physician can collect and
interpret family health history periodically, perhaps annually, to inform the
patient on decisions regarding appropriate screening and prevention strategies.
"People with an increased familial risk often develop a disease at an
earlier age than what is typically expected. In some cases, screening for early
detection should begin at an earlier age and occur more frequently than what is
recommended for the average risk individual."
The AMA notes that while family patterns often indicate increased risk, they do
not necessarily predict certainty of developing a medical condition.
"Knowing your family history is important, but it's not an exact
science," Dr. Hill adds. "Patients still need to share their concerns
with their physicians and work on addressing them."
Article courtesy of ARA
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