Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

ABSTRACT:

Background

The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting pathogenic variants that confer personal risk for actionable monogenic hereditary disorders, but only as secondary findings from exome or genome sequencing. The Centers for Disease Control and Prevention (CDC) recognizes the potential public health impact of three Tier 1 actionable disorders. Here, we report results of a large multi-center cohort study to determine the yield and potential value of screening healthy individuals for variants associated with a broad range of actionable monogenic disorders, outside the context of secondary findings.

SUBMITTER: Haverfield EV 

PROVIDER: S-EPMC8371767 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature