Clinical Sequencing Evidence-Generating ResearchActive August, 2020 to July, 2023Prenatal and Pediatric Genome Sequencing
University of California, San Francisco: Pui-Yan Kwok, MD, Ph.D; Mary Norton, MD; Barbara Koenig, PhD; Anne Slavotinek, MD, PhD; Neil Risch, PhD
The UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS) will study the utility of whole exome sequencing as a tool for 1) diagnosing infants and children with serious developmental disorders, and, 2) providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.
Genome sequencing, which allows physicians to look at many genes concurrently, has been rapidly integrated into the clinical setting but its usefulness remains uncertain. The UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS) will study the utility of whole exome sequencing as a tool for 1) diagnosing infants and children with serious developmental disorders, and, 2) providing genetic information to parents when a prenatal study reveals a fetus with a structural anomaly. We will also address ethical, social and economic issues in the delivery of genomic sequencing results to diverse populations, such as under represented minorities and the medically underserved.