Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

摘要

BackgroundClinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X‐linked carrier results as additional secondary findings, and research about the impact of carrier results disclosure in this context is needed.