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The Choice

I have been involved in research in this area for 17 years, since shortly after BRCA1 and BRCA2 were discovered, and I have no idea what I would do if I were a woman faced with this decision. The diagnosis of a mutation is just words on paper, but the risks they foreshadow are very real.
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I must confess that I am very conflicted about adding to the river of words that have been written about Angelina Jolie's decision to undergo a risk-reducing (preventive) mastectomy. She made a difficult choice, and has discussed that choice with power and grace, in the hope of helping other women. Both the choice and the disclosure took a lot of courage. Full stop. But the power of her celebrity, and the extensive media coverage of her decision, may wind up making things more difficult for some women with BRCA1 or 2 mutations.

I have been involved in research in this area for 17 years, since shortly after BRCA1 and BRCA2 were discovered, and I honestly have no idea what I would do if I were a woman faced with this decision. Imagine the situation. You go to talk to a health care provider because you have a family history of breast cancer or ovarian cancer. Hopefully, you have genetic counseling (which not everyone gets, although they should), and learn about genetics for an hour or so. If it looks like there's a meaningful chance that genetic testing could be informative, you then give a blood sample or spit in a tube. After a couple of weeks, you come back and are told that you carry a mutation. You don't feel any different physically, and you do not, in fact, have any medical problem, but now you are told that you have "up to an 87% chance" of developing breast cancer before your reach your 70's, as well as an substantial risk of developing ovarian cancer. There's a fair amount of uncertainty regarding the exact risks, but they are clearly increased, and you are told that the most effective way of avoiding being diagnosed with breast cancer is to remove your breasts. But you do not know that you definitely will develop breast cancer if you don't. So the decision to have that surgery is an act of faith justified by a belief in science, a powerful sacrifice to try to seize control of one's destiny and avoid one particular fate.

In the case of BRCA mutations, this faith in science is not ill-founded. On the same day that the news about Ms. Jolie broke, I saw a young woman who was found to have a BRCA1 mutation after she was diagnosed with breast cancer, and is now fighting recurrent disease. I also saw a woman who I have been following closely since her BRCA1 mutation was found, and who now has to receive chemotherapy for a cancer that we have just diagnosed. The best technology in the world and my best efforts could not keep that away from her. The diagnosis of a mutation is just words on paper, but the risks that those words foreshadow are very, very real.

But there are reasons why a decision to have surgery is not clear-cut. The exact risks are unclear, and probably vary depending on factors that have not yet been pinned down. And the diagnosis, if it occurs at all, is in the future, and surgery is painful, and hard to fit into a busy life. And screening, if done right, will most likely diagnose the cancer at a curable stage, even if it does mean surgery then, and possibly chemotherapy and radiation. Is it any wonder that many women with mutations are ambivalent about surgery? Not everyone summons the faith.

Which brings me back to Ms. Jolie. For all of her fame and wealth, she had to wrestle with the same uncertainties and ambiguities as any other woman with a BRCA1 or 2 mutation. She, too, had to decide whether she believed that the words and numbers on her test report committed her to a fate that could only be avoided if she surrendered to the surgeon's knife. She did, indeed, make the leap, and her honesty and dignity in the aftermath of her surgery will provide comfort and encouragement to other women who follow the same path. But we should not lose sight of the fact that her choice reflects a deeply personal balancing of the risks and benefits of the different courses of action available to her. Other women, faced with the same basic facts, the same test report, may instead decide to pursue careful surveillance with breast MRIs and mammograms. These women are not being reckless. Although preventive salpingo-oophorectomy (removal of the ovaries and fallopian tubes) has been shown to improve survival in mutation carriers, there are as yet no medical studies with survival as an endpoint that establish the superiority of breast surgery over surveillance.

These medical facts were not changed by Ms. Jolie's choice. But the saturation coverage of her surgery may foster the impression that preventive mastectomy is the standard way to manage the risk from mutations in BRCA1 or 2, and women who already know that they are carriers but do not wish to undergo surgery may feel that they are flying in the face of established medical standards. The impression that preventive mastectomy is inevitable may also discourage women from undergoing testing if they fear that a positive result would "force" them to do something that they refuse to contemplate. I hope that we are able to continue to inform women in a balanced way about what we do and do not know with respect to the options available to them, helping them make the decision that is right for them, without imposing upon them our own beliefs and values in the absence of concrete medical evidence.

One final point. Some have suggested, either overtly or implicitly, that this was all somehow easier for Ms. Jolie because her fame and wealth gave her access to BRCA testing and surgery that is not available to women without the same means. Those people are being foolish and mean-spirited. First, fame and wealth don't insulate you from fear and anxiety. Second, BRCA testing has been endorsed by the U.S. Preventive Services Task Force, and is covered by most insurance policies if a woman is an appropriate candidate for testing. Lack of access to BRCA testing is a reflection of disparate coverage for preventive services and the larger problem of inadequate health care coverage in our country, not the result of monopolistic practices by a diagnostics company. In my experience, preventive surgery is also considered medically indicated for mutation carriers who choose it, and covered by most insurers (albeit sometimes with significant co-pays).

So, when I reflect on Ms Jolie's story, I don't see a woman who was able to avoid her fate by virtue of her privileged position. I see a beautiful young woman who gracefully made an awful choice under conditions of extreme uncertainty. My clinic is full of women just like her, every one of them beautiful, struggling with the same decision.

Note: Opinions are mine alone, not my employer’s.

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