BRCA1/2 population screening: embracing the benefits

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Editorial-Current Oncology

 Whether all adult Ashkenazi women should be offered population screening for recurrent BRCA1 and BRCA2 founder mutations is an important question to me both personally as an Ashkenazi Jewish woman and professionally. I was a junior faculty member and a newly certified medical geneticist in 1995 when I participated in the first research study offering 185delAG mutation testing (the other two founders weren’t known at the time) to the Ashkenazi Jewish community in Houston1........

.... The remaining obstacles to population screening are those of cost and appropriate staffing or counselling guides. Instituting population screening in the United States without a national health care system (such as in Canada or Israel) will be more challenging. Insurance coverage of genetic testing will likely begin only if a guideline from a professional medical organization recommends population screening. But, there were obstacles when population screening for Tay–Sachs carriers was first recommended in the 1970s, and medical professionals and the Ashkenazi Jewish community found ways to overcome those barriers to effectively perform population screening and drastically reduce births of children with Tay–Sachs disease16. I hope that, in 2015, professional societies will thoughtfully embrace the potential benefits of adult population screening for Ashkenazi founder mutations in BRCA1 and BRCA2, with the goal of decreasing the untimely death of individuals from breast and ovarian cancer.