Opinion

Genetic testing for breast cancer

By Sheryl G. A. Gabram-Mendola
Oct 11, 2010

When Carolyn Stearns was diagnosed with bilateral breast cancer, she and her health care team wanted to know why. As her surgical oncologist, I encouraged her to take a genetic test, which showed us that she had a genetic predisposition for cancer. Based on this test, we set a specific and personalized course of treatment for her, and she is doing well.

Her daughter, Ashley, also took the test and found she has the same genetic abnormality. Armed with this information, Ashley, 28, is exercising more, has changed her diet, and is having regular check-ups that include breast imaging at six month intervals. She has taken a positive, proactive approach to preventing breast cancer and says this information did not change her life, it changed her lifestyle.

Myriad Genetics Laboratory, the biotech company that holds the patent for this genetic test, has rolled out an extensive public awareness campaign that includes television and print ads aimed at women throughout the Southeast. The ads encourage women to take Myriad’s test to help determine their risk for breast cancer.

As a breast cancer surgeon, I view Myriad’s campaign as a glass half full since it opens the door to educate women about the importance of genetic counseling. Myriad’s intent is to educate the public about hereditary breast and ovarian cancer, and their message is an important one. Prevention and early detection of both of these cancers clearly saves lives.

What the ads leave out, however, is the role of counseling.

In my experience, many women over-estimate their risk, leading to unnecessary testing and worry. It’s critical for women to understand their actual level of risk for breast and ovarian cancer before they undergo such testing. We encourage women to seek out and talk with health care providers, such as genetic counselors, who are trained and well-informed about breast cancer risk and can provide pre- and post-genetic test advice.

Genetic testing for breast and ovarian cancers looks for specific genetic mutations, called BRCA1 and BRCA2. The names BRCA1 and BRCA2 stand for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2, respectively. For women who test positive for the BRCA1 or BRCA2 mutation, genetic counseling offers a proactive plan of care that enables women to take charge.

Myriad ran a similar ad campaign in 2002. Published studies after the campaign showed that women were more aware of the test and that doctors ordered more tests. But among women seeking testing, higher-risk women did not seek testing more often than lower-risk women. Another study showed that the ad campaign significantly increased requests for testing among lower-risk women, suggesting that the campaign may have been too broad.

While Myriad’s ad campaign provides good information and encourages women to learn more about breast and ovarian cancer, I encourage those women who are considering taking this test to talk with their health care provider about genetic counseling. Many physicians partner with genetic counseling programs like the one at Emory’s Winship Cancer Institute to appropriately order genetic testing and fully inform their patients.

Knowledge is power, and this important test may be the right way to go for many women, but not all. If you are concerned about your risk of breast cancer because of family history or other factors, please talk with your health care provider about a genetic counselor.

Dr. Sheryl G. A. Gabram-Mendola is a professor of surgery and director of the High Risk Breast Cancer Assessment Program at Winship Cancer Institute of Emory University. The opinions expressed are hers, and Dr. Gabram has no financial interest in Myriad Genetics.

About the Author

Sheryl G. A. Gabram-Mendola

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