Genetic testing for breast cancer is easier to get than it ever has been. How do you know if it’s right for you? PEOPLE asked top cancer docs to find out

By Sara Gaynes Levy
October 01, 2020 09:00 AM
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Ask a Doctor is PEOPLE’s series getting you the answers to the medical, health and personal questions that you always wanted to know but weren’t sure who to ask.

As Breast Cancer Awareness month kicks off in October, it’s an important time to revisit the screening methods available to help detect the disease early – which can be critical in successfully fighting it, as early detection is linked to higher survival rates at five and 10 years out from first diagnosis. In addition to studying the warning signs of breast cancer so you can recognize any changes in your own breasts, mammograms are probably the most common and well-known method of detection; however, sonograms and even MRIs can be used to find tumors.

Doctors also may recommend that higher-risk individuals get genetically tested for breast cancer, as there are a few genetic mutations that, if present, indicate a higher chance of developing breast cancer later on.

“Genetic testing has become much more advanced and more widely available, and the costs have plummeted over time,” explains Lisa Newman, MD, chief of breast surgery at Weill Cornell Medicine and NewYork-Presbyterian Hospital. “It’s really wonderful to have access to that information.”

Having one of these genetic mutations is not the same as a breast cancer diagnosis, but the test results can be a helpful tool for doctors to know which patients require closer screenings. Perhaps the most famous example is Angelina Jolie, who revealed in 2015 that she had a preventative double-mastectomy after learning she had a genetic mutation.

“I applaud celebrities who get out there and leverage their position to share about important health topics like [Jolie did],” says Dr. Newman. “Their experience isn’t relevant to everyone, but when it comes to disseminating information about health, these stars should be lauded for making information available to more people. Just remember to discuss what you’ve heard with your healthcare provider!”

So how do you know if you should get tested? PEOPLE spoke with top cancer doctors to find out what you need to know.

What is genetic testing for breast cancer?

Many people think that these tests look for specific genes that are cancer-causing, but this isn’t exactly right, explains Gil Weiss, MD, an ob-gyn, partner at Association for Women’s Healthcare and an assistant professor of clinical medicine at Northwestern Memorial Hospital. The genes we talk about when it comes to genetic testing for breast cancer— commonly known as BRCA-1 and BRCA-2 — are normal genes we all have, which act as tumor suppressors. They become “activated” only when a mutation is present, meaning they don’t work properly.

“When they get a mutation and don’t function normally, that’s when there’s a problem,” he says. The tests look for those mutations, which, again, are not equivalent to a cancer diagnosis. “Even if you have the mutation, it doesn’t mean you will have cancer. It just means you’re at an increased risk.”

For context, according to the National Cancer Institute, approximately 12 percent of women will develop breast cancer over the course of their lives, but for women who have one of these mutations, that number jumps to about 70 percent. (Keep in mind this is just an average— individual risk factors including age, number of relatives with a cancer diagnosis, and overall health factor in.)  There are home tests available, but experts recommend you see a certified geneticist if you’re considering this testing, as they’ll be able to help you figure out what your increased risk is even more precisely.

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Who is a good candidate for genetic testing for breast cancer?

Generally speaking, anyone with a strong family history of cancer— meaning multiple relatives, on either side of your family, with any kind of cancer (even if it’s not breast)— may be a good candidate for genetic testing. “If anyone in your family has had breast cancer at age 45 or younger, or any men in your family have had breast cancer, those are also important things to consider,” says Dr. Weiss. (That’s why Beyonce and Solange Knowles’ father Mathew Knowles encouraged his daughters to get tested after his diagnosis). You can bring up an extensive family history of cancer with an ob-gyn or even general practitioner to see if they recommend referring you to a genetic specialist.

Surprisingly, newly-diagnosed breast cancer patients may also be good candidates for testing. “That information will sometimes help guide our treatment choices,” says Dr. Newman.

There are also certain ethnic and racial groups that benefit greatly from genetic testing, says Dr. Newman, whose research specializes in this topic. Ashkenazi Jewish women are at an especially high risk of having a BRCA mutation, and are encouraged by the US Preventative Services Task Force to get tested.

Dr. Newman also suggests Black women with family histories consider getting tested, as they are disproportionately affected by breast cancer; the disease is significantly more deadly for Black women as compared to white women. While some of the disparity is due to systemic racism in the healthcare system, Dr. Newman stresses that not all of the difference can be accounted for as a result of systemic and socioeconomic factors.

“Historically, Black women have been underrepresented in research,” Dr. Newman says. As a result, we don’t know as much about how breast cancers behave in Black women or exactly why they are more likely to be diagnosed with certain deadlier types; that's why, she says "We need to learn more about patterns prevalent in these communities.” It is vital more testing be done— the data could be life-saving not just for you, but for future generations.

What are some common misconceptions about genetic testing?

First, that it’s prohibitively expensive. “The cost is something that can be moderated,” says Dr. Weiss. As Dr. Newman mentioned, the cost has plummeted in recent years—where it might have been $5,000, now, it may be under $100, depending on the type of test you need and your insurance. If you meet certain diagnostic criteria, the cost of the test may be covered entirely, and your doctor can help you find a way to get tested that will work for you and your budget.

A second misconception is that, if a mutation is found, it will be used against you in a health insurance setting or otherwise. “The Genetic Information Non-Discrimination Act makes it illegal to use your results against you when it comes to health insurance,” explains Dr. Weiss. This legislation also protects you against employment discrimination based on your results.

What does it mean if you have a BRCA genetic mutation?

Overall, the number of people who will have this mutation is small—about 1 in 400— and therefore out all cases of breast cancer diagnosed each year, only about 5 percent of them are linked to the gene.  The remaining breast cancer cases are what docs call “wild” or “sporadic”. Crucially, having a mutation doesn’t mean you will get cancer.

“There’s a range of risks,” says Dr. Newman. “With a BRCA [mutation], it could increase your risk by 30 to 40 percent, or it could increase it by 80 to 85 percent [depending on other family history, lifestyle and genetic risk factors].” When it comes to cancer risk, "it’s never a zero percent chance of getting cancer, but it’s never 100. A negative test doesn’t mean no hereditary risk, either— it just means that we don’t know yet whether there is hereditary risk,” says Dr. Newman.

Still, if your test does turn up a genetic mutation, expect your doctors to get a bit more proactive about screening you for breast cancer. “They may do extra mammograms or MRIs, or, in higher-risk cases, explore preventative medicines or prophylactic surgeries [like preventative mastectomies],” says Weiss.

The approach will depend on your individual risk level and where you are in your family planning schedule, he explains, as some treatment options (including medications and prophylactic surgeries) are not recommended for women who still plan to have children. Adds Dr. Newman, “For all women, but certainly those who have hereditary susceptibility, we encourage a healthy diet, exercise, moderating alcohol intake and avoiding a sedentary lifestyle.”

There are also some personal, emotional challenges to consider— one being that if a genetic mutation turns up on your test, you need to tell your immediate family members about it. These can be difficult conversations, but they’re so important in helping everyone be informed about their own health.

If you’re interested in learning more about genetic testing, what should you say to your doctor?

Concerns about your health are “always worth bringing up,” says Dr. Weiss, adding that even if your doc refers you to a geneticist based on your family history and the geneticist says you’re not at an increased risk for breast cancer based on your genes, there was still no harm in getting evaluated.

“Have some questions prepared in advance,” for your doctor, suggests Dr. Newman, such as what kind of surveillance plan she would recommend should you have the mutation, and whether your insurance will cover the test. “Having this information is enabling and empowering for the individual.”