Timing of genetic testing in BRCA mutation carriers: an unfortunate lost opportunity for those meeting NCCN testing criteria

Objectives: NCCN recommends testing for BRCA based on personal and family history of cancer and known mutations. BRCA testing can have preventative implications with increased screening and risk-reducing surgery if a mutation is diagnosed. The objective of this study was to determine the number of patients meeting BRCA testing criteria prior to a personal diagnosis of a BRCA related-cancer (BRC) and reasons for genetic testing in those without a BRC among a cohort of BRCA carriers. Methods: This was a retrospective cohort study at three satellite sites within one institution from 2014 to 2018. Patients were identified by ICD-10 codes associated with hereditary disposition of malignancy (Z15.01, Z15.02, Z15.09, Z15.89, C50.919, Q99.8, C54.1). Patients with BRCA1 and BRCA2 pathogenic mutations with and without a personal history of cancer were included in this study; BRCA1/2 not specified, variants of uncertain significance, and unknown dates of testing and cancer diagnosis were excluded. NCCN testing criteria were applied to those who underwent testing with and without a diagnosis of a BRCA-related cancer (BRC). Outcomes of interest were the number of patients meeting NCCN criteria for BRCA testing and reasons for testing in those without a BRC. Chi-square and Mann-Whitney U tests were performed with significance at p Download : Download high-res image (129KB) Download : Download full-size image Results: Six hundred thirty-eight patients met inclusion criteria; 331 (51.9%) had a BRCA1 mutation and 312 (48.9%) a BRCA2 mutation. The median age of genetic testing was 40 (range 19-90). Of 281 patients with a personal history of a BRC, 193 (68.7%) underwent genetic testing after a diagnosis of cancer. The majority (205/281, 73.0%) of these patients with a cancer diagnosis met NCCN criteria for testing by either family history of mutation or family history of cancer. Patients with a family history of known mutation were more likely to be tested prior to their cancer diagnosis (44/88, 50.0% vs 49/193, 25.4%, p Conclusions: Almost 70% of patients with BRCA mutations and BRC undergo genetic testing after a personal cancer diagnosis; approximately 75% of these patients met criteria for testing based on family history of cancer or family history of mutation. Those with a family history of a mutation were twice as likely to be tested before their cancer diagnosis. Identification of these mutations prior to development of cancer is critical to improve screening and preventative measures. Increased education of genetic testing criteria and methods to improve identification and cascade testing with outreach efforts are desperately needed.