How to Know if You Should Get BRCA Testing
I like my boobs.
They’re great. They look fine in a T-shirt, it feels good when they're touched, and they make small, but workable pillows for cats and certain people. That just makes it all the harder knowing I may have to part ways with them some day.
I have a history of breast cancer in my family. My grandma had it, my aunt has it, and I’ve had benign fibroadenomas in my right breast since I was 16, a condition that gives me a slightly higher cancer risk than the general population. To top it off, I’m also of Ashkenazi Jewish descent, the ethnic group at the highest risk of having genetic mutations associated with the development of breast cancer.
Even with odds like mine, I never considered having genetic testing to determine my breast cancer risk. I figured my fate was sealed. I’d just try to be as healthy as I could in case fate had an off day.
Then genetic testing company 23andMe sent me an email saying my BRCA test results were in. This was a surprise. My mom sent me a kit earlier this year so we could trace our DNA back to the Neanderthal cave from whence our ancestors came, but I didn't know the cancer risk assessment was included.
BRCA is a tumor suppressor gene that produces a protein which assists in DNA repair. Women who have inherited mutations in two of its most common variants — BRCA1 and BRCA2 — are at an increased risk of developing breast cancer and ovarian cancer compared with the rest of the population. These mutations are particularly prevalent in people with a family history of breast cancer and, gulp, Ashkenazi Jewish ancestry. That would be me.
I froze. One click of the email’s “View Results” button could tell me everything I wasn’t so sure I wanted to know. Though I’d always suspected breast cancer would be in my cards, I wasn’t mentally prepared to be proven right.
The internet is awash with horror stories of positive BRCA tests that led to weeks of crying, the immediate consideration of surgery, and, as one woman posted on a Reddit thread, the persistent feeling that a “sword was hanging over [her] head.” The prevailing myth around those four letters is they're a cancer guarantee.
In fact, the average woman has about a 12 percent chance of getting breast cancer before she turns 80, and 90-95 percent of those cases are caused by environmental, behavioral, or totally random factors we can’t predict. So if I found out I don't have a BRCA mutation, it wouldn't exactly mean I'm home-free.
A million questions flooded my head. Couldn’t I just ignore these results, pretend this never happened, and eat enough broccoli to lower my chances of developing cancer? (Clearly, I’m not a doctor.) Among the noisiest questions was, How do other people handle this choice?
To find out, I reached out to Otis Brawley, M.D., chief medical officer of the American Cancer Society. The first thing he recommended women like me do is to learn the facts about BRCA and other cancer-causing genes before making any rash decisions about their bodies or futures.
“Getting informed is so important,” he says. “People need to know that their BRCA status is not always the best indicator of breast cancer risk. Even if they are positive for a BRCA mutation, it’s not the end of the world.”
With that in mind, let’s bone up on our BRCA knowledge.
BRCA Basics: What You Need to Know
According to the Susan G. Komen Foundation, 5-10 percent of breast cancers are due to inherited mutations to genes like BRCA. Because the prevalence of this type of cancer is relatively low compared to non-genetic breast cancers, Brawley tells me BRCA testing is really only recommended for women who are likely to have one of these inherited mutations based on personal or family history (having a mother, sister, or daughter with BRCA-based breast cancer poses the greatest risk). It’s not a test he typically recommends for women at average risk of breast and ovarian cancers, especially those who are under 40, which is the age at which breast cancer risk begins to increase the most. (That’s why the guidelines on annual mammograms kick in at age 40, too — but self-checking for lumps should be a given at any age.)
Of those inherited mutations, the most common are in the genes BRCA1 and BRCA2. Women who have a mutation of BRCA1 have a 72 percent chance of developing breast cancer, while women with a BRCA2 mutation clock in at 69.
However, those are averages. There are thousands of specific mutations of BRCA1 and 2 that have both much lower and much higher risks of breast cancer than that. For example, the BRCA1 variant Angelina Jolie has gave her an 87 percent chance of developing breast cancer, a number that puts her decision to have a preventative double mastectomy into clear context.
On the flip side, there are some BRCA variants which may not have any affect on breast cancer risk, and according to a 2011 study by the University of San Francisco, some are known to increase cancer resistance. Finding this out made made me feel a bit less anxious about opening my own results, but it left me wondering — if BRCA isn’t necessarily a death sentence, why do we make it seem like it is?
It’s All About Knowing Your Individual Risk
BRCA1 and 2 were the first genes to be linked to breast cancer, and are by far the most widely discussed in the media and in medical literature, says Brawley. Additionally, widespread direct-to-consumer marketing for genetic tests has piqued people’s interest in BRCA testing, even when they are at low risk for mutations. Because of this, we tend to assume BRCA is the end-all-be-all breast cancer gene.
I hate to steal the spotlight away from it, but it’s not. There are nine other genes — with an untold amount of variants — that have known associations with breast cancer. For example, women who have a mutation in a gene called ATM have a 52-69 percent risk of developing breast cancer.
Most “send-us-your-spit” genetic tests like 23andMe and Color don’t test for these other genes, because they’re not as common as BRCA mutations. In fact, of the 80 most common BRCA mutations, 23andMe only screens for three. Given that kits like these were developed to help people figure out their ancestry and whether or not they have dimples, not to diagnose disease, that seems fair. Health discoveries are a relatively recent addition to the testing platform, and the company states explicitly on its site that it shouldn’t take the place of medical consultation or advice. Thus, BRCA testing through 23andMe (and other similar kits) isn’t really a reliable way to ascertain your actual breast cancer risk.
Instead, Brawley suggests seeing a certified genetic counselor first, to determine if you need screening at all, and if yes, for what exactly.
“If you are concerned you’re at an elevated risk for inherited breast cancer, a genetic counselor can analyze your family history and personal risk factors and help you choose the screening option — if any — that’s right for you,” he says. Brawley suggests starting with tests for the specific mutations that run in your family, and says that whole genome sequencing is really the gold standard. (That’s the process of analyzing all of your genes and their mutations, and it’s predictably expensive at $1,000 a pop.) He strongly recommends it for anyone whose family history places them at a higher risk.
Again, that would be me, but I’m not biting. Some of us would just rather stay in the dark about our exact risk level, while others want that information in order to choose preventative measures.
Karen Kramer is the senior vice president of marketing at Facing Our Risk of Cancer Empowered (FORCE), a nonprofit organization dedicated to improving the lives of individuals and families affected by hereditary cancer. FORCE’s general ethos is that knowledge is power, and that knowing your genetic status gives you the ability to make more informed medical decisions. So when Kramer had the opportunity to get tested herself, she was eager to know the results.
“I wanted to be able to protect myself,” she says. “I was more afraid of chemo someday than I was about anything else, and I was 44 at the time, so the decision was easy for me.” She also wanted to give her three kids the option to protect themselves — children of parents with BRCA mutations have a 50 percent chance of inheriting the mutated gene.
Kramer tested positive for a BRCA1 mutation that gave her an 87 percent chance of breast cancer and a 50 percent chance of ovarian. After talking to a genetic counselor, she had a double mastectomy and an oophorectomy (removal of her ovaries), which doctors in the oncology community refer to as “risk-reducing” procedures. Even without breasts you can get breast cancer, that is, though each ounce of tissue removed decreases your risk. Though she’s well aware neither of these things drops her risk to zero, she’s happy with her decision.
“I’d do the same thing all over again if I had to, because of the peace of mind the surgeries provided me,” she tells me. “I feel as if I reduced my risk of breast and ovarian cancer well below the general population and that has been a tremendous comfort for me.”
However, Brawley advises folks with lower-risk gene mutations (or no mutations at all) consider other preventative measures first. “In many cases, less invasive lifestyle changes like diet improvements, weight loss, hormone therapy, cutting back on alcohol and cigarettes and getting regular breast exams are the most logical risk-prevention methods,” he says, adding that he respects a woman’s right to whatever preventative measure she chooses.
“A patient’s choice is always valid,” he tells me. “As long as they understand that no preventative measure makes them completely immune.”
This brings us back to the personal choice I made six months back when 23andMe sent me my test results — willfully ignoring them and pretending broccoli was an adequate substitution for an actual assessment of my health.
Great news for me: Brawley and Kramer agree that my head-in-sand denial is an okay course of action. Though they both advocate for genetic screening and counseling for at-risk individuals, they recognize that this isn’t for everyone. “Choosing to know your BRCA status is a very personal decision,” says Kramer. “For some, the stress of not knowing (and not being able to do something about it) is greater than the stress of finding out. For others, the stress of living with the knowledge is more challenging. At the end of the day, it boils down to what fear is greater.”
Suddenly it made sense why 23andMe included the following disclaimer at the bottom of their email: “Because we recognize that not everyone may want to learn about cancer risks, you'll be prompted to choose whether you'd like to receive this report when you click the link below.”
I have the utmost respect for people who do accept the challenge of reading those results, but I had to think hard about whether I was one of those people. I pictured what it would feel like to see open my results and find a big, fat positive staring back at me. Knowing what I know now, my first course of action would be to stay calm and see a genetic counselor to find out what my actual risk was. If I did have a high-risk mutation in BRCA or another gene, I could see myself making like Kramer or Angelina Jolie. I’d want to be proactive. I fantasized about the peaceful feeling of knowing I’d done everything I could. Of course, it's impossible for any of us to really know what we'd do in someone else's shoes.
But me? I chose to not know. To this day, My BRCA results live in my email inbox, buried under six months’ worth of work correspondence and offers from Postmates for $3 off my next Chipotle burrito.
Though I have a history of breast cancer in my family, and my ancestry makes me ten times more likely to carry a BRCA mutation than the general population, talking with Brawley also made me realize I may not be at as much of a risk as I’d thought — I don’t have a mother or sister with breast cancer, three or more people in my family have not been diagnosed with a genetic mutation, and at 28, I’m about a decade shy of being in a high-risk age bracket. Given all of this, I’m sure I will want to crack open that email and pay a visit to a genetic counselor at some point, but as of right now, I’m just not ready.
And the one thing I know with 100 percent certainty? That's my choice to make.