BRCA1/BRCA2 predictive genetic testing in an Irish population: A missed opportunity.

e13530Background: The diagnosis of a BRCA1/2 mutation has significant implications for both probands and their families, with both screening and prophylactic surgical interventions available. Underutilisation of genetic testing services has been reported in other jurisdictions. BRCA1/2 testing is requested in only 29-53% of eligible women and 11-12% of eligible men, representing a missed cancer prevention opportunity. Possible explanations include lack of family disclosure, poor access or lack of awareness of genetic counselling services, or patient preference. We investigated the rates of BRCA1/2 predictive testing in an Irish population. Methods: We performed a multicentre, retrospective analysis of 63 pedigrees from two Irish tertiary hospitals over a five-year period (2012-2017). By manually examining pedigrees, we identified eligible family members who should receive BRCA1/2 mutation testing as per national guidelines. Results: A total of 1048 candidates for predictive BRCA1/2 mutation testing were i...