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Knowledge related to genetic susceptibility in breast cancer, in particular the identification of BRCA1 and BRCA2 genes, has greatly enhanced the accuracy of breast cancer prediction for the subset of individuals with heritable disorders. Genetic testing for hereditary syndromes can aid in early detection and prevent cancer through screening, surgical prophylaxis, and chemoprevention. Genetic risk prediction can improve survival when combined with early detection and targeted therapy. Unfortunately, most patients who carry a genetic mutation for hereditary breast cancer are not tested (Drohan et al. Ann Surg Oncol. 2012;19(6):1732–7). Failure to notify mutation carriers prior to developing cancer robs them of the opportunity to utilize preventive strategies, direct surgical management, select systemic therapy, manage other at-risk organs, determine a follow-up approach, and manage recurrent disease.

Genetic testing for individuals with familial or hereditary risk for breast cancer is essential to improving prevention and survival. Identifying unaffected BRCA1/2 mutation carriers before they develop breast cancer can reduce their risk and increase survival through increased intensity and frequency of screening, prophylactic surgery, and use of chemopreventive agents. Although the tools for genetic testing have been available for the past 20 years, nearly 95% of unaffected BRCA carriers remain unaware of their risk. The barriers to genetic screening are multiple. To identify patients for genetic testing, the clinician must first take the family history; analyze it using hereditary risk models, guidelines, or intuition; refer the patient for genetic testing; and most important, ensure that the patient follows through. With each of these steps, a certain proportion of patients is lost. Mary-Claire King , the human geneticist who discovered the BRCA mutation, once stated that “to identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.” We can do better.