BRCA1 and hereditary disease: Specifically, the Geisinger-Regeneron DiscovEHR collaboration links electronic health records (EHRs) to population-scale exome sequencing to create a platform for genomic discovery, drug development, and clinical genomic implementation.1 The genome-first approach coupled with deep phenotyping demonstrated its utility and accuracy in ascertainment of the predictive value of CFTR [OMIM 602421] screening and cystic fibrosis.2 Previous analyses of these data have focused on more common genetic disorders (eg, BRCA1/2 [OMIM 113705] and hypercholesterolemia).3,4