Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time dependent.

BACKGROUND: Genetic testing for BRCA1 and BRCA2 pathogenic variants (PVs) has been available in North West England since 1995. We assessed uptake of pre-symptomatic testing in 1564 families with PVs over a 24.5 year follow-up (FU) period. METHODS: First degree relatives (FDRs) in families with BRCA1 or BRCA2 PVs were eligible from date of index family report if unaffected by a relevant cancer and alive at report date. FDRs were censored at diagnosis of a relevant cancer, date of death, age 93 or 30/03/2019. Time to uptake of pre-symptomatic testing was assessed by Kaplan-Meier curves, by gender and children. RESULTS: 2554 male and 3115 female FDRs were eligible. Overall uptake was 775 (30.3%) in males and 1935 (62.1%) in females. This increased at 15 years to 33.6% and 67.9%, and continued to rise until 24 years (P<0.001). For women, the 29-39 years age group had the highest uptake at 10-years FU (72.5%-P<0.01) whereas the 50-59 years age group was highest in males (37.2%-P<0.01). Women <18years at the time of familial variant identification had lower initial uptake, but this rose to >80% by 15 years. Uptake was higher in parous women (P<0.001) and in males with daughters (P<0.0001). CONCLUSION: Uptake of BRCA1/2 pre-symptomatic testing is age, gender and time dependent, and higher in women with children and males with daughters.