After Testing Positive for the BRCA Cancer Gene, What?
Many of us live in fear of getting cancer, but what if you knew that you stood an 85 percent chance of getting a particular form of the disease? Would you lop off body parts in an attempt to outwit the cancer?
A recent documentary on PBS profiles women who have tested positive for the BRCA gene mutation, which according to "reputable" medical sources, puts those women at an 85 percent lifetime chance of developing breast cancer, and a 50 to 60 percent chance of developing ovarian cancer. Based on those odds, those women face an agonizing choice: should they have preventative surgeries -- radical mastectomies or oophorectomies -- even though they show no sign of cancer at the moment?
For the documentary's central figure, Joanna Rudnick, (who also is the filmmaker), the choice is particularly poignant, as she's only 27 years old at the time of the filming and she's already tested positive for the gene. "When I first found out I had the mutation," she says, "I didn't tell anyone. In fact, I had even told a good friend of mine who knew I was getting tested that I tested negative. That's how I felt about the information. It was stigmatizing; it was confusing; it was painful; it was frightening; and the last thing I wanted to do was talk about it to anyone."
The film focuses on young women like Joanna who believe they have limited choices -- either live under the constant specter of doom, or have the preventative surgeries.
"The only true preventative measures right now are the surgical removal of healthy organs," says Rudnick -- and by that she means both mastectomy and oophorectomy, because one surgery alone doesn't reduce risk enough. In fact, at least 20 percent of women who test positive for the gene now opt for both surgeries, and there's plenty of encouragement from the medical establishment to go in that direction. According to Dr. Mike Janacek, Director of the Genetic Risk Assessment Center at the Piper Medical Center, the double surgeries reduce the risk of developing these cancers by 90 to 97 percent. He's vehement in his assertion that every woman who tests positive should absolutely follow through with the surgeries.
Influenced by such authoritative voices, people like Ms. Rudnick don't so much ask whether or not to have the surgeries -- they ask when. "My mother was diagnosed with ovarian cancer at 43," she says, "and I feel I have to have my ovaries out before then to be safe. I still would like to have children, and I'm 34 right now, so I'm waiting until I have children, hopefully, before I get my ovaries removed. The breast surgery, I'm considering doing soon, and let's just leave it at that."
While the women profiled in the show uniformly insist that they wanted the knowledge gleaned from early testing so that they can take proactive measures to avoid cancer, viewers can't help noticing the emotional suffering triggered by having that knowledge so early in life. Rudnick tried to get tested privately, because she was concerned that insurance companies would turn her down for medical coverage. Her boyfriend broke up with her because of the impact of her test results. She moves through life worrying, taking constant tests, feeling that "these diseases are, in some ways, constantly knocking at my door, waiting for me." And other women interviewed in the film echo her experience.
Perhaps the surgeries would be worth it if in fact they truly were as much of a life-saver as Dr. Janacek and many of his peers suggest. But the sad truth is that women often rush into prophylactic surgery armed with inaccurate and incomplete information.
As I wrote in a blog last January, a study published in the The Journal of the American Medical Association reported at that time that the link between the BRCA gene and breast cancer had been overstated by a wide margin. Rather than the 90 percent risk figure so often quoted, the researchers found that the actual risk was at most 52 percent, and in many cases, as low as 36 percent. And that preventive surgery at best only adds three to six years of life for a 30-year-old woman, and only when she also has both ovaries removed. Is it worth losing both breasts before age 40 and becoming sterile in order to possibly gain a 36% chance at just 3-6 years? Remember: having the double surgeries doesn't protect a woman from developing other cancers.
On top of that, it's not necessarily all in the genes. Otherwise, why would the gene mutation without a matching family history account for only five percent of all breast cancers? And remember, family history does not necessarily mean genetics. If an entire family shares dietary choices, environmental exposure, and lifestyle choices, these things certainly will create risk factors that all family members share in common. Improving lifestyle and environmental factors may well reduce the risk even for women with mutated genes. In fact, new research reveals that even without the BRCA gene, women who have a strong family history of breast cancer stand a 40 percent greater than average chance of developing breast cancer themselves -- a fact Dr. Janacek and his peers conveniently forget to communicate. According to your perspective, then, this can be viewed as further evidence that shared lifestyle factors may play an even greater part in the development of these diseases than does the shared gene.
Considering the profound psychological suffering that women undergo after learning that they have mutated genes, one would hope that whatever health decisions they made would be based on a full understanding of the facts so they could choose wisely whether to compound that suffering. It's certainly heartbreaking to learn of women in their 20s and 30s who feel that they've been issued an imminent death sentence and who believe that they have no choice other than to mutilate their still healthy bodies in order to stay alive -- especially when the facts may not support that choice.