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.
Department of Cancer Genetics, St. James' Hospital.
Has not received any funding.
All authors have declared no conflicts of interest.