Researchers sought to assess the value of breast imaging centers (BICs) as potential clinics to identify women who are at high risk for hereditary breast and ovarian cancer (HBOC) and increase the number of appropriate referrals for genetic assessment. The researchers’ hospital-based BIC serves mostly low- to middle-income patients in a major metropolitan area. They developed a practical screening tool based on the National Comprehensive Cancer Network HBOC screening and testing guidelines and prospectively screened patients. The researchers presented their findings at the ASCO Annual Meeting.
A questionnaire was added to intake forms for 35,000 women receiving breast imaging services at the facility’s BIC between 2012 and 2015, which were then reviewed by radiologists. A total of 1,214 patients (3.5%) were flagged and categorized as high risk. These patients were contacted by letter or telephone, and a nurse navigator or genetic counselor verified data and provided information about genetic counseling to the 1,025 patients who were identified as candidates. Twenty-five percent of the high-risk patients (n = 258) made an appointment for genetic counseling, and 16% (n = 163) actually received counseling. Of the 106 patients who were tested for BRCA1 or BRCA2, 8.5% (n = 9) tested positive for BRCA1 or BRCA2 pathogenic mutation and 7.5% (n = 8) had a variant of unknown significance.
“Screening for HBOC syndromes at the time of annual breast imaging in a community-based BIC is practical,” the authors concluded. “Our screening tool identified women with BRCA mutations who would have been otherwise missed. This will have immediate implications for the patient and their family members in regard to increased surveillance and risk reductive surgery discussions.”