Opportunistic genomic screening has clinical utility: An interventional cohort study.

ABSTRACT:

Purpose

Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is lacking. We assessed the outcomes of opportunistic screening for a broad spectrum of SFs by evaluating the yield, impact on clinical management, and consistency between SFs and participants' clinical features and family history.

Methods

Adult cancer patients had exome sequencing with the option to learn multiple categories of SFs. Outcomes data were collected through c

SUBMITTER: Mighton C 

PROVIDER: S-EPMC12257567 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature