Knowledge is power

Winship Cancer Institute’s patients

What women being tested for breast cancer mutations need to know

“Breast cancer runs in my family,” a smartly cropped woman candidly tells the camera. “I wondered if it would be inevitable,” intones another. They join with others to encourage viewers to get a test that will assess their risk for hereditary breast and ovarian cancer.

If history is any indicator, this TV commercial will have its intended effect. When Myriad Genetic Laboratories, the maker of the test, aired a similar direct-to-consumer ad campaign in Atlanta in 2002, testing rates here doubled. And while that is a positive development, many of the women who will respond to the current ad may lack a clear understanding of the capabilities—and limitations—of genetic testing.

That’s why cancer experts believe it’s critical for a patient to receive genetic counseling before blood is ever drawn (to understand whether the test is appropriate for her and what it can and can’t reveal) and after testing (to help interpret the results and discuss options).

Winship Cancer Institute’s high-risk assessment clinic specializes in just such comprehensive counseling. “We construct a detailed family history and talk more specifically about genetic testing in each visitor’s particular situation – whether or not it’s right for them,” says genetic counselor Christine Stanislaw.

Then, based on an individualized risk assessment, women have the opportunity to understand their options for care. “That’s what really sets us apart,” says Sheryl Gabram, director of the high-risk assessment program. “On a same day visit, a woman can see a surgical oncologist and a genetic counselor, and, if necessary, meet with a medical oncologist to talk in detail about chemoprevention. She can see a gynecologic oncologist to talk about screening for ovarian cancer, a reconstructive surgeon, a social worker, a pastoral counselor, or dietitian.” Women also receive state-of-the-art breast imaging with digital mammography and if they meet high- risk screening criteria, a breast MRI.

Such expertise will be invaluable for women spurred toward testing by the current ad campaign since the tests are designed for a select group of women.

“The Myriad tests screen for mutations in two specific genes—BRCA1 and BRCA2,” says Toncred Styblo, surgical director of the breast center at Winship. “Only a small percentage of women carry those mutations. Also different varieties of mutations have different implications for patients in terms of risk. The results are not black and white.”

“Just because you have a relative who has been diagnosed with breast cancer doesn’t mean you are at high risk for these mutations,” says Stanislaw. “At the clinic, we have a model into which we can input the totality of the patient’s personal and family medical history, and it will determine how likely it is that the patient will benefit from genetic testing.”

If a woman does get tested, she will need professional help interpreting the results. If she tests positive, she can take actions that can help mitigate her heightened risk. Lifestyle changes, enhanced screening, chemoprevention, or risk-reduction surgery can boost her odds of evading cancer.

A negative test result, while reassuring, is not a reason to relax ordinary screening. “A negative result doesn’t mean you’re never going to get breast cancer,” says Stanislaw. “The vast majority of breast cancers are random.”

About 5% of women will get an inconclusive result. The test may identify changes in the DNA within BRCA1 or 2 but provide insufficient data for one to know if that change is critical for gene function or if it’s benign. “That can be a very frustrating result,” says Stanislaw. “At that point, you just have to manage based on personal and family medical history.”

The bottom line: women need to fully inform themselves about their risk for breast and ovarian cancer. Those at high risk need to seek out specialized counseling because, as Gabram says, “knowledge is power.” –Martha Nolan McKenzie

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