Perceived utility of genetic carrier screening in a diverse patient population.

ABSTRACT: Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X-linked conditions. Clinical utility is based on alterations to reproductive decision-making, but study cohorts supporting the utility of ECS largely consist of individuals of European ancestry who are highly educated, of high income, and who often receive preconception counseling. There is a lack of research on the views of patients from diverse backgrounds. Therefore, we aimed to assess and compare perceptions of the utility of ECS and targeted carrier screening (TCS) in an ethnically, economically, and educationally diverse population. We administered a survey to o

SUBMITTER: Colleran JA 

PROVIDER: S-EPMC12645425 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature