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

Kathryn M. Porter, Tia L. Kauffman, Barbara A. Koenig, Katie L. Lewis, Heidi L. Rehm, Carolyn Sue Richards, Natasha T. Strande, Holly K. Tabor, Susan M. Wolf, Yaping Yang, Laura M. Amendola, Danielle R. Azzariti (+18 others)
2018 Molecular Genetics & Genomic Medicine  
Clinical 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. Methods: Representatives from 11 projects in the clinical sequencing exploratory research
more » ... atory research (CSER) consortium collected data from their projects using a structured survey. The survey focused on project characteristics, which variants were offered and/or disclosed to participants as carrier results, methods for carrier results dis-
doi:10.1002/mgg3.453 pmid:30133189 fatcat:45hsm4apxrggdgtuhuxp2ba4yy