Genetic Test Evaluation

understanding how genetic tests impact patient management

Whole Genome Sequencing (WGS) in Neonatal and Pediatric Patients

September 22, 2016


This report examines the clinical utility of whole genome sequencing (WGS) in neonatal and pediatric populations. Given the recent emergence of the technology, there is considerable interest in its clinical use and ability to identify deleterious variants not always identified through traditional diagnostic methods, including targeted genetic testing. Currently, there are no clinical guidelines directing the general use of WGS; however, there are specific conditions that suggest WGS as an appropriate diagnostic method to identify the underlying genetic etiology of the disorder. In this report, we evaluate the evidence for WGS in neonatal and pediatric patients with regard to clinical diagnosis, improved patient outcomes, and changed patient management and/or the management of at-risk family members.