The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.

ABSTRACT: Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a retrospective, cross-sectional study comparing cascade genetic testing rates among relatives of probands who received either diagnostic germline testing or non-indication-based proactive screening via next-generation sequencing (NGS)-based multigene panels for hereditary cancer syndromes (HCS) and/or familial hypercholesterolemia (FH). The proportion of probands with a medically actionable (positive) finding were calculated based on genes associated with Centers for Disease Control and Prevention (CDC) Tier 1 conditions, HCS genes, and FH genes. Among probands with a positive finding, cascade testing rates and influencing factors were assessed

SUBMITTER: Schmidlen TJ 

PROVIDER: S-EPMC9243226 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature