Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.

ABSTRACT:

Purpose

To measure the prevalence of medically actionable pathogenic variants (PVs) among a population of healthy elderly individuals.

Methods

We used targeted sequencing to detect pathogenic or likely pathogenic variants in 55 genes associated with autosomal dominant medically actionable conditions, among a population of 13,131 individuals aged 70 or older (mean age 75 years) enrolled in the ASPirin in Reducing Events in the Elderly (ASPREE) trial. Participants had no previous diagnosis or current symptoms of cardiovascular disease, physical disability or dementia, and no current diagnosis of life-threatening cancer. Variant curation followed American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) standards.

Results

One in 75

SUBMITTER: Lacaze P 

PROVIDER: S-EPMC7606791 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature