"I am Ashkenazi Jewish on both sides. There is absolutely no history of breast, gynecologic, pancreatic or colon cancer on either side of my family, as far back as a century. When talk of the BRCA mutations hit the news, I asked both my husband (a cardiologist) and PCP (male) - neither of them Jewish - whether I should be tested. Both said no, reasoning that my ethnicity and gender alone were insufficient risk and would probably have led to a denial of insurance coverage for the test. My PCP, however, was aghast that I had let my mammograms slip and insisted in 2008 I resume getting them annually. In 2011, when I was 60, I had a colonoscopy that came up negative for polyps and diverticuli, and am not due for another one until 2021.
"All that changed when this past August, my annual mammogram revealed an anomaly, which when biopsied led to a diagnosis of IDC at age 64. After my lumpectomy, both my surgeon and MO recommended genetic testing based on my diagnosis (even though postmenopausal) and ethnicity. I underwent a genetic counseling session, and the counselors concurred; and my MO issued a written authorization for the testing. The results came back negative for the BRCA 1 & 2 mutations and any VUSes. Therefore, my treatment plan remains unchanged. And because there was prior authorization for the test as well as grounds (ethnicity and having breast cancer), I did not even have a co-pay.
"However, had I tested positive, my adult son would have had to be tested, as his paternal (non-Jewish) grandmother was diagnosed at 62 with breast cancer (type unspecified), and survived another 34 years after a modified radical mastectomy and radiation. My sister would also have had to be tested. I would not have elected prophylactic mastectomy of either breast, just more frequent screening; but would definitely have had prophylactic bilateral salpingo-oophorectomy. And I would have had to have colonoscopies every 3-5 years, as well as an initial ERCP to check my pancreas. (I had a cholecystectomy at age 43 due to multiple gallstones.)
"Do I resent having had to go through all this worry for the 2 weeks it took to get my results? Not at all. Knowledge is power, either way it turns out."
-- ChiSandy, tested negative for genetic mutations