Clinical outcomes of a genomic screening program for actionable genetic conditions.

ABSTRACT:

Purpose

Three genetic conditions-hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia-have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.

Methods

Observational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger's MyCode project. EHR of all eligible participants was evaluated for a prior genetic diagnosis and, among participants without such a diagnosis, relevant personal/family history, postdisclosure clinical diagnoses,

SUBMITTER: Buchanan AH 

PROVIDER: S-EPMC7605431 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature