P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study

摘要: MethodsAn observational study was embedded within a randomized controlled trial (NCT03597165). Adult cancer patients had genomic sequencing (GS) with primary cancer findings and the option to learn SFs. We defined SFs as variants which were deliberately analyzed and reported, but unrelated to the primary indication (cancer), including the following categories: medically actionable (121 genes), Mendelian (3,837 genes), early-onset neurodegenerative (60 genes), carrier status (684 genes), multifactorial disease risk (26 variants), and pharmacogenomic variants (24 variants). Monogenic sequence variants in participants’ chosen categories were classified following ACMG/AMP guidelines with ClinGen specifications. Pathogenic (P) and likely pathogenic (LP) variants were reported as SFs. Twenty-four Clinical Pharmacogenetics Implementation Consortium (CPIC) class A variants were analyzed as …