Patient goals, motivations, and attitudes in a patient-driven variant reclassification study.

Family studies to reclassify clinically ascertained variants of uncertain significance (VUS) can impact risk assessment, medical management, and psychological outcomes for patients and their families. There are limited avenues for patients and their families to actively participate in VUS reclassification, and access to family studies at most commercial laboratories is restricted by multiple factors. To explore patient attitudes about participation in family studies for VUS reclassification, we conducted semistructured pre- and post-participation telephone interviews with 38 participants in a family-based VUS reclassification study that utilized a patient-driven approach for family ascertainment and recruitment.

Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.

Purpose: Family studies are an important but underreported source of information for reclassification of variants of uncertain significance (VUS). We evaluated outcomes of a patient-driven framework that offered familial VUS reclassification analysis to any adult with any clinically ascertained VUS from any laboratory in the United States.

Methods: With guidance from FindMyVariant.