Study Design with Responsible Return of Results for a Fully Remote Genome Sequencing Study in Individuals with Prader-Willi Syndrome

• Published in: Genetics in Medicine Open p. 103448
• Main Authors: Vrana-Diaz, Caroline J., Bohonowych, Jessica, Richards, Jaimie L., Wilk, Brandon M., Gajapathy, Manavalan, Bar-Peled, Yael, Harris, Anna C., Denton, Jessica J., Brown, Donna, Worthey, Elizabeth A., Strong, Theresa V.
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.08.2025
• Subjects: Genetics; genome sequencing; incidental findings; pharmacogenomics; Prader-Willi syndrome; secondary findings; genome sequencing; incidental findings; pharmacogenomics; secondary findings; Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder affecting multiple systems. We describe the design and feasibility of a fully remote, patient group-led, genome sequencing (GS) study that will evaluate the impact of genetic variants on PWS clinical symptom frequency and s...