Screening familial risk for hereditary breast and ovarian cancer

Screening familial risk for hereditary breast and ovarian cancer
JAMA Network; by Daniel Kiser, Gai Elhanan, Alexandre Bolze, Iva Neveux, Karen A Schlauch, William J Metcalf, Elizabeth T Cirulli, Catherine McCarthy, Leslie A Greenberg, Savanna Grime, Jamie M Schnell Blitstein, William Plauth, Joseph J Grzymski; 9/25/24
In a large health system, how many ungenotyped patients meet family history genetic testing criteria for hereditary breast and ovarian cancer? In this cross-sectional analysis, 2.9% of patients had no evidence of prior genetic testing but had electronic health records indicating they met family history criteria. These criteria were associated with significantly increased prevalence of genetic risk variants among 38 003 genotyped patients. These findings suggest that substantial gaps exist in identifying and testing patients meeting family history criteria for hereditary breast and ovarian cancer, and other methods may be needed to close these gaps.