Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results.

ABSTRACT:

Purpose

We estimated the penetrance of pathogenic/likely pathogenic (P/LP) variants in arteriopathy-related genes and assessed near-term outcomes following return of results.

Methods

Participants (N = 24,520) in phase III of the Electronic Medical Records and Genomics network underwent targeted sequencing of 68 actionable genes, including 9 genes associated with arterial aneurysmal diseases. Penetrance was estimated on the basis of the presence of relevant clinical traits. Outcomes occurring within 1 year of return of results included new diagnoses, referral to a specialist, new tests ordered, surveillance initiated, and new medications started.

Results

P/LP variants were present in 34 participants. The average penetrance across genes was 59%, ranging from 86% for FBN

SUBMITTER: Sherafati A 

PROVIDER: S-EPMC9837827 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature