Knowing your family medical history could save your life
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 titled “Family Medical History in Disease Prevention” that is available online at www.ama-assn.org/go/familyhistory 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,” said 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 genetic research.
“Perhaps the most relevant use of family health history today is in the delivery of preventive medicine,” said 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.”
