But, with all the excitement about the testing and the false idea that a positive BRCA-mutation diagnosis allows women to preemptively strike against — and avoid — cancer, it becomes increasingly important to slow down and take a sober look at what this relatively new technology can and can’t do. The test may be trendy, but not every woman needs it.
First, a little primer on the genes themselves: There are two BRCA genes — BRCA1 and BRCA2. When these genes are properly formed, they produce proteins that repair damaged DNA. But, when either genes mutate, its protein production dwindles or bunk proteins are made, leaving cells vulnerable and able to “develop additional genetic alterations that can lead to cancer,” according to the National Cancer Institute at the National Institutes of Health.
There are a few specific mutations of the BRCA1 and BRCA2 genes that are inherited from our families (on the mother or father’s sides) and can raise the risk of breast, ovarian and other cancers in women. It takes just one BRCA glitch in genetic code handed down from our parents to cause a mutation — in other words, even if your second copy of a BRCA1 or BRCA2 gene is normal, the ability of your proteins to repair damaged DNA is compromised.
Though the BRCA mutations are sometimes pegged as uniquely Jewish, being of Jewish descent doesn’t mean the mutations are in your genes. Specifically, those of Ashkenazi descent (a group that makes up about 80% of Jewish people worldwide, according to The Hebrew University Genetic Resource), along with those of Dutch, Icelandic, and Norwegian heritage, have been shown to carry the mutation more prevalently.
Admittedly, with all this in mind, getting tested for the gene seems like a no-brainer: If the mutated genes can increase the risk of cancer, shouldn’t testing fall in line with standard health care for the everywoman, such as getting mammograms and pap smears? Not quite. The first level of inquiry in discovering whether you’re one in roughly 400 to 800 women in the U.S. who have a BRCA gene mutation isn’t the testing itself, but talking with a counselor — or more specifically a certified genetic counselor.
Genetic counselors are the first stop on the road to discovery because they can help you suss out whether you should be tested at all. Family history plays a major role in who should and needn't get tested for the mutations. Surprisingly, not even everyone with breast cancer in their immediate families needs to take the test. For example, Lisa Madlensky, Associate Professor and Genetic Counselor at U.C. San Diego and Director of the Family Cancer Genetics Program at the Moores Cancer Center explains, “Say a young women comes in and she’s concerned [about having a mutation] because her mom had breast cancer. Although there’s no history of cancer on her father’s side, she’s thinking, ‘I should get this test.’ But, her mom actually already had genetic testing and does not carry one of these genetic changes, then there's absolutely no reason for the daughter to get tested.”
To prime genetic counselors to deliver this kind of intel, it helps to kick off an initial consultation by coming with a boatload of information about your family background. This first visit typically lasts about an hour and is generally covered by insurance, or can range from $100 to $300 if paid for out of pocket, Madlensky says. By establishing who in the family history had cancer, their age when it was discovered, and whether that person tested positive for the genetic mutation can help counselors give more relevant assessments about who should get tested.
“We help work our way through the family tree and try to coordinate who in the family should get tested first, if anyone,” she says of the process. “We want to know as much detail as possible about ages and diagnosis. If someone in the family has already been tested [for mutations], we try to get a copy of that report,” she says, noting that when a family member already diagnosed with cancer undergoes BRCA testing, it’s particularly informative to see whether the cancer was caused by the BRCA gene mutation in the first place.
“So, we encourage people to do a lot of detective work within their families so they can get the most out of their consultation and it’s accurate. If someone comes in and has a sketchy idea, then we can make our best guess, but that’s not going to be terribly accurate for that patient,” she says.
Sometimes, it’s more valuable for another family member to get tested than for the person seeking the genetic counseling. Tomiko*, a 42-year-old Bay Area resident who works in finance, sought out genetic counseling after her mother had been diagnosed with stage two breast cancer and had a single mastectomy. After working though her family tree with her counselor, it was determined that testing might be helpful — even though her mother had tested negative for the BRCA mutations. But, Tomiko wasn’t the one to undergo the saliva or blood test. Instead, because history on her father’s side had shown incidents of cancer, the counselor suggested her father get tested first. He tested positive.
In addition to talking through age, family history, and other relevant information, and establishing the best family member to get tested for the mutation (if at all), a good genetic counselor should also be able to address the emotional aspects of choosing to get tested and what may come along with the process — and a positive or negative result.
“It’s pretty intense,” Madlensky says. “In our training, we learn to address the emotional issues that come up when people are telling stories about their family histories. It can be emotional, so part of our training is helping people integrate that information when they’re in a very emotional place and provide support. We really pride ourselves with being able to handle issues of distress when they come up.”
The topic is so emotional and heady that Madlensky often sees women come in who are convinced that they carry a mutated BRCA gene before they’ve even started to explore the realities.
“One of the most common situations we encounter is with women coming in and believing they are going to get breast cancer. They're not thinking 'if,' but 'when.' They're thinking something like, ‘My aunt had breast cancer when she was 42. I’m almost 42 and I look just like her, so I must have her genes. I know it’s going to happen, so what’s the point in even doing all of this?’ So many young women overestimate their breast-cancer risk,” she says.
“One of the things we do a lot of, once we go through and do the assessment, is discovering that most women are nowhere near the level the level of risk they thought they were. So, we end up undoing a lot of that for many, many women.”
Even when someone is diagnosed with a positive BRCA mutation, it’s the unique combination of a genetic counselor’s training in genetics and molecular biology, risk assessment, psycho/social counseling, and knowledge of how to navigate the medical system that makes them an excellent resource for those considering getting tested.
Cyndi Freeman, a 49-year-old New York-based storyteller and burlesque dancer, made an appointment with a genetic counselor after three medical professionals encouraged breast and ovary removal while performing various breast exams, including mammograms, ultrasounds, and biopsies. At the time, she was paying special attention to her breast health in the years following her sister’s breast-cancer diagnosis. Smartly, Freeman opted to see a genetic counselor to explore a possible gene mutation diagnosis before removing body parts.
“I would certainly suggest not to do this without a counselor,” Freeman says. “Mine gave me a chance to speak and talk it out, and she wasn’t judgmental. She didn’t say, ‘You need to rethink this,’ like my surgeon, who told me I should get prophylactic surgery. She allowed me to have my own opinion.”
“When getting emotional news, you want someone there who isn’t just trained medically and can give you the correct information. On the other hand, you can complain all you want to a therapist, but she’s not going to have the science to give you the medical information,” Freeman points out.
“Being able to get personally relevant information about BRCA mutation and sort through the results with someone who’s going to allow you to be emotional, is helpful,” Freeman continues, “especially because surgeons and other doctors may not have the capacity or training to deal with the emotional and psychological aspects of a positive BRCA mutation diagnosis.”
Additionally, Madlensky notes, specialists and OB/GYNs don’t have the time to spend to perform a full risk assessment.
Freeman’s counselor determined that she was a good candidate for for BRCA mutation testing. And, while she did ultimately find that she had inherited the gene, Freeman has chosen not to undergo prophylactic surgery or chemoprevention, another option for so-called “previvors” that includes the use of drugs that block ovary function and estrogen production. For Freeman, who is among the estimated majority of women who choose not to elect for risk-reducing mastectomy after BRCA-mutation diagnosis, according to a Cedars-Sinai Medical Genetics Institute study, choosing to closely monitor her breast health with regular tests is the right proactive decision.
“I’m not taking chemotherapy drugs for the rest of my life if I don’t have cancer,” she reasons. “I’m a very healthy person. I’ve never had any form of surgery. This is holistic, but my view is, cutting open a body and removing things can’t be good for the immune system in the long run. It’s opening yourself up to all sorts of confrontation. I’m not going to live my life as if I have cancer if I don’t have cancer. I’m more than happy to get tested throughout the year for breast and ovarian cancer.”
Her decision was also informed by the fact that risk assessment is a bit of a moving target: Just because BRCA mutations can be detected, doesn’t mean we will surely avoid breast cancer altogether. Here’s why:
A positive test result doesn’t automatically mean cancer. The latest research shows that 55% to 65% of women who test positive for BRCA1 mutation and about 45% of women who test positive for BRCA2 mutation will develop breast cancer by the age of 70. While those chances are much higher than the 12% of women in the total population that get breast cancer by the age of 70, the mutations don’t guarantee that the disease will develop.
On the flip side, a negative result for the mutations doesn’t mean you’re entirely safe. No matter what your results for the BRCA1 and BRCA2 mutations, there’s still a chance that breast cancer can emerge as a result of other gene mutations. “The vast number of breast cancers are not related to the BRCA gene at all,” Madlensky says. According to the National Cancer Institute, BRCA1 and BRCA2 mutations account for about 20% to 25% of hereditary breast cancers and just 5% to 10% of all breast cancers.
While the tests don’t give hard answers, they can provide options to help you make the right choices for yourself.
Tomiko, whose father tested positive for BRCA2 mutation, proceeded to get tested herself. After finding out that she, too, carried the mutation, she was able to start making informed decisions about how to manage her health care and cancer screenings. For her, a mastectomy and reconstructive surgery (in which she was able to keep her nipples) provided psychological relief that she was doing something proactive and made her feel more in control of the situation.
“Given a set of really bad options, this was a good thing for me to do. I made my own choice,” she says.
Ultimately, seeking genetic counseling if a woman is concerned about her risk of breast cancer puts her in the position of being able to make informed choices that are right for herself. “It's a very personal decision, and, in the end, there is no choice that is right or wrong,” says Lisa Madlensky, “We want to make sure that women have the opportunity to understand that both choices have risks and benefits, so they can make the choice that is best for their own situation."
Still, Madlensky notes that some women are afraid to take that first step because they think that an initial consultation will require immediate testing for the gene mutation or because people are afraid of how a result might affect viability for health insurance coverage. But, as Madlensky points out, the Affordable Healthcare Act is designed to eliminate the bias against those with pre-existing conditions.
Though both BRCA mutation carriers in this story chose different routes after their diagnoses, taking that first step to see a genetic counselor proved equally beneficial. It allowed both to move from places of fear and worry to places of ownership and strength. (Freeman was able to pull back from knee-jerk medical suggestions to get surgery before a BRCA gene mutation diagnosis had even been made, while Tomiko was able to stop presuming that she would inherit breast cancer from her mother, since testing revealed that the gene mutation was on her father’s side. Both were able to take the action that was right for them.)
Many women who seek genetic counseling for BRCA mutation will discover that they are not at particular risk or will test negative for BRCA — a process which can provide a lot of relief. But, most importantly, amid the hype, this process of discovery can remind us that when it comes to our health, being active participants gives us choices, and ultimately, as Tomiko puts it, “This is your body. And, nobody can tell you what to do.”