Thinking Through Genetic Testing
Once it has been established that a legitimate risk may be present, the decision to test or not to test must be based on a combination of emotional factors, concerns about family members, and the possibilities that may exist for taking proactive steps designed to reduce vulnerability to breast cancer if the test comes back positive.
Each woman in the BRCA mutation danger zone must decide for herself which is better – to know, or not to know. While no one would dispute that it is better to know if the result is negative, if a test comes back positive a woman may have to deal with the constant specter of cancer lurking over her shoulder. But if no test is taken, that same specter will still be there, even if it is not a daily companion. In the final analysis, it seems that most would probably prefer to know if they have a mutation but there may be some women who would find the living easier if they did not have to think about cancer at all until its presence had been diagnosed for sure. Not all women who test positive for the BRCA gene mutation will develop breast cancer – about four in ten will not – and even those who eventually develop it may not do so until many years in the future.
If a woman has children, especially daughters, or is planning on having them in the future, this will have to be a factor in the decision to test or not to test. Daughters are quite likely to inherit these defective genes, and whether or not a woman carries them will have an enormous impact on the lives of any daughters they might have or eventually have. A BRCA mutation-positive test could very well impact a woman’s decision to have children in the future, while giving women who are already mothers the opportunity to definitively warn their daughters of the risks they may face in the future.
If a test comes back positive, there are changes a woman can make that will reduce the likelihood of breast cancer eventually being diagnosed. The most radical, but also the most definitive method is to have the breasts removed surgically so the danger is all but eliminated. The use of chemotherapeutic agents, most specifically tamoxifen or a drug called raloxifene in post-menopausal women, for the purposes of prevention has been shown to reduce the diagnosis of breast cancer in women from vulnerable groups by almost 50% - although chemotherapy does have debilitating and uncomfortable side effects, which may scare some away from using it pre-emptively. Lifestyle changes are also recommended, as cutting out alcohol, losing weight if a woman is obese, and more exercise overall can all reduce the risk of breast cancer at least somewhat.
One last caution is that genetic testing does not always provide a definitive answer. Because not all BRCA genetic mutations are harmful, in some instances mutations may be found but their possible connection to breast cancer may be undetermined.
A Woman’s Choice
Before deciding to have genetic testing performed for mutations to the BRCA and BRCA2 genes, a woman has many things to think about and take into consideration, preferably with the help of a genetic counselor. The final decision can potentially affect the lives of a lot of people but that decision ultimately must be made by one brave person standing alone.
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