Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

• Main Authors: Juliann M. Savatt (Author), Jennifer K. Wagner (Author), Steven Joffe (Author), Alanna Kulchak Rahm (Author), Marc S. Williams (Author), Angela R. Bradbury (Author), F. Daniel Davis (Author), Julie Hergenrather (Author), Yirui Hu (Author), Melissa A. Kelly (Author), H. Lester Kirchner (Author), Michelle N. Meyer (Author), Jessica Mozersky (Author), Sean M. O'Dell (Author), Josie Pervola (Author), Andrea Seeley (Author), Amy C. Sturm (Author), Adam H. Buchanan (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Exome and genome sequencing are routinely used in clinical care and research. These technologies allow for the detection of pathogenic/likely pathogenic variants in clinically actionable genes. However, fueled in part by a lack of empirical evidence, controversy surrounds the pro...