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, represented 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.
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.
A total of 1048 candidates for predictive BRCA1/2 mutation testing were identified. 318 (30.4%) proceeded to BRCA1/2 mutation testing including 215 (37.5%) females and 99 males (21.5%). Uptake of testing favouring women was statistically significant (T = 3.7, p<.0002).
We demonstrate suboptimal uptake of BRCA1/2 mutation testing in the Irish population, particularly among Irish males. Predictive BRCA1/2 testing and subsequent screening/surveillance/prophylactic intervention in mutation carriers can meaningfully impact breast cancer survival. This represents a missed cancer prevention opportunity for Irish society.
Clinical trial identification
Legal entity responsible for the study
Department of Cancer Genetics, St. James' Hospital.
Has not received any funding.
All authors have declared no conflicts of interest.