Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.

ABSTRACT:

Purpose

To identify conditions that are candidates for population genetic screening based on population prevalence, penetrance of rare variants, and actionability.

Methods

We analyzed exome and medical record data from >220,000 participants across two large population health cohorts with different demographics. We performed a gene-based collapsing analysis of rare variants to identify genes significantly associated with disease status.

Results

We identify 74 statistically significant gene-disease associations across 27 genes. Seven of these conditions have a positive predictive value (PPV) of at least 30% in both cohorts. Three are already used in population screening programs (BRCA1, BRCA2, LDLR), and we also identify four new candidates for population screening: GCK

SUBMITTER: Schiabor Barrett KM 

PROVIDER: S-EPMC8629756 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature