Thinking back to the early summer of 2013, I remember fielding more and more questions about genetic testing from my patients. And this was natural, as it was fueled by the news that Angelina Jolie tested positive for the BRCA 1 mutation and opted to have bilateral mastectomies to minimize her risk for breast cancer. This news didn’t change my approach to the discussion of risk assessment and indications for genetic testing, despite her celebrity.
I reassured most of my patients, specifically those at average risk, that the incidence of such a mutation is only about 1 in 400 or 500 in the general population. Certainly, that number can change based on individual risk, such as family history for breast or ovarian cancer, personal history of cancer, young age at diagnosis, etc. Even for my current patients with breast cancer, their risk of such a mutation is about 1 in 50. Basically, it’s really not a common finding among women.
However, Mary-Claire King, who was the lead geneticist in the discovery of the BRCA gene (the “breast cancer gene”), recently opined that all women over the age of 30 should be tested for the BRCA mutation. This is quite a bold statement, given that the test can cost between $3000-$4000. Insurance companies may cover the test, but usually only in cases where there is a strong indication to do so (i.e. personal and/or family history of breast cancer). I don’t think I’m ready to start ordering this test on every patient, given the low incidence of a positive result, but as genetic research evolves, we can more specifically define risk factors for patients and implement a more individualized approach to genetic testing. As usual, a measured and more thoughtful approach to genetic testing is best, in my opinion.