Rapid Whole Genome Sequencing Study

Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.

NCT Number	NCT03385876
Lead Sponsor	Rady Pediatric Genomics & Systems Medicine Institute
Conditions	Genetic Diseases, Genetic Syndrome
Enrollment	100,000 participants
Start Date	2017-08-29
Primary Completion	2050-12-31 (estimated)
Study Completion	2050-12-31 (estimated)
Updated on ClinicalTrials.gov	2021-12-23