Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.
Nandana D RaoJailanie KaganovskyEmily A MaloufSandy CoeJennifer HueyDarwin TsinajinneSajida HassanKristine M KingStephanie M FullertonAnnie T ChenBrian H ShirtsPublished in: Genome medicine (2023)
Population screening can identify additional individuals that could benefit from prevention, but challenges in recruitment and sample collection will reduce actual enrollment and yield. These challenges should not be overlooked in intervention planning or in cost and benefit analysis.