Should You Get Tested for the Breast Cancer Gene?

Angelina Jolie. Photo: Getty ImagesAngelina Jolie sharing news of her preventative mastectomy in May has led, without a doubt, to raised awareness of genetic testing and breast-cancer risks. But experts worry that its storm of media coverage has had an unintended effect, too.

“I think, oftentimes, those stories oversimplify the matter,” Rebecca Nagy, president of the National Society of Genetic Counselors, told Yahoo Shine. For example, she said, women who learn of Jolie’s story might rush in for genetic testing even though they are not at risk—while others, fearing that a mastectomy would be the only option if they should test positive for genetic mutations, might become frightened, and avoid it at all costs.

Nagy spoke with Yahoo Shine about who should and who should not get tested for the gene mutations in question, and why. She also took us through the various decisions that a woman will face throughout the process. 

First, let’s get straight what the test is: It’s a genetic analysis, taken through a blood, spit or cheek-cell sample, that looks to see if you carry the BRCA-1 or BRCA-2 gene mutation, and which is generally covered by insurance these days. Why might it be an important test to have? Because carrying either can greatly increase a woman’s risk factor, meaning a 40 to 85 percent chance of developing breast cancer and up to a 60 percent chance of developing ovarian cancer by age 70. The risk of breast cancer in the general population of women, by contrast, is about 12 percent.

So how to best determine if you’re a candidate for testing? The first step, Nagy noted, is to refer to a simple checklist. Have you had…

•Two or more cases of breast and/or ovarian cancer in close relatives, especially if one had a diagnosis before 50 or had cancer in both breasts?
•A known BRCA1 or BRCA2 gene mutation in the family?
•A breast-cancer diagnosis before age 50, or ovarian cancer diagnosed at any age?

If you answered yes to any of the above, Nagy suggests meeting with a genetic counselor—a better option, she stressed, over simply finding a doctor to administer the gene test, which is becoming easier and easier to do because of heavy marketing to doctors by companies who offer the test.

“What we worry about in those cases is people who test negative and are told they are off the hook,” Nagy explained. Women who test negative might still have an elevated risk level based on family history alone. Those women should ideally be put on a strict course of frequent monitoring.

Another concern over going it alone is being unprepared for the flood of decisions, questions and emotional repercussions that can come with a positive test result.

So what will a counselor do? First and foremost, he or she will help you figure out if getting tested is the best course of action by doing a risk assessment—talking through factors from your ethnic heritage (Ashkenazi Jews, for example, are more prone to the gene mutations) to a more extended family history.

“We spend a little time talking about what a positive test would mean for you, what a negative test would mean for you, what the impact on your close relatives would be, and also how a positive test might affect your life insurance or health insurance,” said Nagy, who sees clients at the Ohio State University James Cancer Hospital. The good news, she said, is that “Most women who come in tend to overestimate their risk for cancer.”

If you have a close living relative who has been diagnosed with ovarian or breast cancer, she added, the counselor’s first suggestion will likely be that your relative should get tested first.

“You start with the one who was affected,” Nagy said, explaining that that person’s test result will serve as an important piece of the puzzle when it comes to analyzing your own results.

Perhaps the most important role for a counselor is to act as your guide if you do wind up testing positive. Because that’s when you’ll have some big decisions to make:

Have an oophorectomy (removal of the ovaries)
Removing the ovaries will reduce your risk of ovarian cancer by up to 90 percent (though a small chance still remains based on the amount of estrogen and progesterone still circulating in your body). It will also reduce you heightened risk of breast cancer by half. On the down side, removing the ovaries will put you directly into menopause, no matter what your age.

Have a mastectomy
Removing your breasts can reduce your chances of developing breast cancer by up to 90 percent—though it will not affect your chances of ovarian cancer, which is difficult to detect through screenings. “That definitely makes us more directive in suggesting oophorectomy,” Nagy said.

Have a mastectomy and oophorectomy
Because a significant breast-cancer risk still remains when only the ovaries are removed, many women will opt to have both surgeries.

Opt for increased screenings in lieu of surgery
For those who don’t wish to have such radical surgeries, there is the option of more time-intensive screenings—annual mammograms and MRIs and exams with a specialist twice a year. “It’s not easy,” Nagy said, and the MRIs could lead to more biopsies, as they are sensitive but not as specific as mammograms. Still, it’s a surgery-free option, with no early onset of menopause.

Finally, Nagy stressed, don’t get tested if you are not at any heightened risk of breast or ovarian cancer. Why? “Overutilization, or people being tested who don’t need it, is bad on a societal level, as it drives up healthcare costs,” she said. “In turn, insurers will start to put parameters on coverage, which is bad for those who really need it.”