eP502: How will returning variants of uncertain significance impact healthcare use? A cross-sectional survey

Genome and exome sequencing (collectively genomic sequencing) generate a variety of complex results, including variants of uncertain significance (VUS). VUS are genetic variants which cannot be classified as benign/likely benign or pathogenic/likely pathogenic as a result of insufficient or conflicting evidence. VUS should not inform clinical decision making; patients with VUS should be managed based on their clinical manifestations, age and family history, rather than based on the VUS. However, a systematic review has identified that VUS can be misinterpreted as disease-causing by patients and healthcare providers, which raises questions of whether VUS may lead to unnecessary health service utilization as genomic sequencing is used more broadly across medical specialties.