Population screening to identify women at risk for hereditary breast cancer syndromes: The path forward or the road not taken?

INTRODUCTION Despite 2 decades of research demonstrating the clinical benefit of genetic counseling and germline genetic testing for the hereditary breast and ovarian cancer (HBOC) syndrome and the publication of evidencebased guidelines recommending family history screening to identify individuals at risk for HBOC in the primary care setting, fewer than 50% of the BRCA1 and BRCA2 mutation carriers in our population have been identified. From a public health perspective, this represents a lost opportunity. For those who have lost a loved one to hereditary breast or ovarian cancer, it represents something far worse. Systemwide implementation of population screening of family cancer history in the primary care context can rapidly identify individuals at risk for hereditary cancer syndromes who are eligible for indepth cancer genetic risk assessment with genetic counseling and testing and empiric risk model prediction. Widespread adoption of this approach using validated tools would ideally identify individuals with genetic susceptibility to breast cancer in early adulthood (eg, in their 20s). This would allow initiation of a comprehensive cancer risk management plan well before the age at which the cancer incidence rate begins to rise dramatically. The study by Arun and colleagues in this issue of Cancer provides important information on the topic of populationbased family history screening to identify individuals with hereditary breast cancer risk. This is the largest study to demonstrate the feasibility of implementing population screening for personal and family history risk factors for HBOC in mammography centers and the effectiveness of this approach for identifying atrisk individuals. The study also highlights the primary challenge to this strategy— low uptake of genetic counseling among individuals at high risk for HBOC. Arun et al developed a 1page, selfadministered screening tool to assess BRCA1/2 mutation risk that was based on genetic testing guidelines from the National Comprehensive Cancer Network (NCCN). They evaluated the feasibility of implementing the tool in a community breast imaging center to identify women who should be referred for genetic counseling. All women undergoing a screening or diagnostic mammogram completed the family history survey, which was subsequently reviewed by the radiologists reading breast imaging studies to identify women meeting NCCN criteria for germline testing of cancer susceptibility genes. Eligible women and their primary care physicians received a letter indicating that they were at risk for a hereditary breast cancer syndrome and recommending genetic counseling. An important element of the study was the availability of onsite genetic counseling, although most women were not able to have counseling on the same day as the mammogram. Patients who received genetic counseling were charged a flat fee of $50 that was not billed to insurance. A total of 34,851 patients were screened from August 2012 to August 2015, and 1246 (4%) were eligible for referral to genetic counseling. Only 189 eligible women (15%) had previously received genetic testing, confirming earlier reports that the majority of women at risk for hereditary breast cancer syndromes have not been tested. Among the remaining 1057 eligible patients, 798 declined genetic counseling or could not be reached; 245 made a genetic counseling appointment; 142 (13%) attended the appointment; and 103 canceled or did not show for the appointment. Among the 142 patients who attended the appointment, 126 met criteria for genetic testing and 105 received it. Eight patients were identified with a BRCA1/2 mutation, 9 had a variant of unknown significance, and 88 tested negative for a mutation.