The Great Debate
Genetic testing is at the forefront of the news, lately. It is being hotly debated in survivor circles, activist groups, and the medical community. Why? Well, it all begins with Mary-Claire King.
Geneticist and human rights activist, Mary-Claire King is a woman that we, in this community, owe a great debt of gratitude. Dr. King is credited with the discovery of the BRCA gene mutations. It was she, who demonstrated that a single gene on chromosome 17 was responsible for breast and ovarian cancer in many families. She revolutionized the study of hereditary diseases.
While always controversial, BRCA testing has become the subject of impassioned argument due to an article, by Dr. King, published in the Journal of the American Medical Association. This publication calls for population-based genetic testing — genetic testing for all women, 30 years of age or older, regardless of family history. Dr. King is trumpeting for something beyond cancer treatment — she wants cancer prevention. During her 20 years of experience studying these BRCA mutations, Dr. King has found that many women do not receive testing until after their first cancer diagnosis. This is because these women do not have enough evidence of cancer in their families to warrant testing. It is Dr. King’s assertion that, to discover the presence of a mutation after diagnosis, is a complete “failure of cancer prevention.” She reasons that all women should be offered testing, beginning at age 30, as part of their routine medical care. Dr. King is quick to say that this genetic testing should not be limitless. Modern testing can identify a mind-blowing number of mutations and markers linked to diseases. The testing Dr. King proposes, would be focused on the full spectrum of BRCA mutations, alone, because, we can do more than just identify these mutations, we can follow treatment options that effectively reduce the odds of developing the disease.
Mary-Claire King’s proposal has not been met with universal support. On the contrary, her words have sparked outrage in some. The argument in support of Dr. King’s proposal, is an obvious one: more testing = greater opportunity for prevention. It is the opposing argument that might not be immediately transparent.
Karuna Jagger is the executive director of Breast Cancer Action. She wrote an article for Huffington Post, entitled, “Genetic Testing for All Women? Not a Solution to the Breast Cancer Epidemic.” The article takes aim at Dr. King’s proposal on a number of levels. The crux of her argument seems to be that genetic testing is not the cure-all many want it to be. She believes that, by focusing too much on the individual patient, we lose sight of “systematic factors” contributing to the disease (I feel it should be noted that one of BCA’s biggest platforms centers on the anti-fracking movement). She, therefore, cautions us that supporting Dr. King’s proposal could be at the detriment of finding a cure for breast cancer.
When I first became aware of Ms. Jagger’s strongly-worded article, I was offended. My gut reaction was to interpret her article as an attack on Previvors — a belittling of the advances being made through genetic testing (a platform I am very passionate about). I wondered if the real issue was one of funding — don’t put your money toward testing because hereditary cancer accounts for a small percentage of total breast cancer cases. I believe it is short-sighted to disregard population-based genetic testing because a mere 5% of breast cancer cases are linked to BRCA mutations. Our goal in fighting breast and ovarian cancer should, ultimately, be prevention. Do not get me wrong, treatment and cure are of the utmost importance, but I want to prevent the disease from spreading. I want future generations to remember it as a concern of the past, outdated by medical advances. I, personally, believe prevention is the key to that future. Genetic testing is one avenue that must continue to be explored as a means to that end. Isn’t it possible that we can only attribute 5% of breast cancer cases to genetic causes because we have only identified a small number of BRCA mutations? Isn’t it possible that, the more we test, the more knowledge we gain, and the more hereditary factors we can pinpoint in breast cancer cases? My point is, don’t discount the potential benefits of this plan solely because of the 5% number. There are other numbers to take into account. For instance, those found with a BRCA mutation have an 87% chance of developing breast cancer and over a 40% chance of developing ovarian cancer. I was horrified to think that Ms. Jagger, a woman I so admire, would insult Dr. King’s life-saving advancements, and all we go through as the HBOC community, in such a manner. I was, however, wrong in making these presumptions.
Upon further reading, I found myself agreeing with many points in Ms. Jagger’s argument. While much of her dissention is based upon a fear of placing too much emphasis on hereditary factors, and upon squabbles over the potential cost of universal testing, she goes further than this. She asserts that one of the most dangerous parts of Dr. King’s proposal is that it removes genetic counselors from the equation. The emotional ramifications of genetic testing are extreme — I can’t imagine going through it without a professional to guide you. I found myself nodding along to Ms. Jagger’s concerns that you can not make fully informed medical decisions without the aid of counselors. The decisions made during testing, indeed, affect those beyond ourselves — they affect generations of our families. How can an individual be expected to make such decisions on their own?
Furthermore, Ms. Jagger ponders over the proposal’s restriction of information given to patients. The only findings one would be made aware of would be BRCA mutations. This means that, if another mutation or marker is found, you would not be told of it, even if it is linked to cancer. This is a tricky area. As Ms. Jagger warns, there are any number of moral and ethical issues involved here. What, as patients, should we be allowed to know? Who’s decision is that to make? Is it Dr. King’s?
My point is this: do not be quick to take sides in this debate. Learn the facts. Hear each side’s argument — there are valid, important points to each. I am a heavy proponent of genetic testing and prevention, but is this specific proposal the right answer? What do you think? Educate yourself and others. We need to work together, as a community of those fighting cancer, not tear each other down.