Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.

ABSTRACT: As large-scale genomic screening becomes increasingly prevalent, understanding the influence of actionable results on healthcare utilization is key to estimating the potential long-term clinical impact. The eMERGE network sequenced individuals for actionable genes in multiple genetic conditions and returned results to individuals, providers, and the electronic health record. Differences in recommended health services (laboratory, imaging, and procedural testing) delivered within 12 months of return were compared among individuals with pathogenic or likely pathogenic (P/LP) findings to matched individuals with negative findings before and after return of results. Of 16,218 adults, 477 unselected individuals were found to have a monogenic risk for arrhythmia (n = 95), breast cancer (n = 96),

SUBMITTER: Linder JE 

PROVIDER: S-EPMC10645563 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature