Diagnostic Yield of Whole Genome Sequencing for Patients with Neurodevelopmental Delays

BACKGROUND
•Neurodevelopmental disorders (NDD) are a broad set of disorders associated with syndromic and non-syndromic autism spectrum disorder, intellectual disability, and/or developmental delay.
• Genetic testing for NDD can inform medical management, prognosis, family planning, and clinical trial eligibility.
• Whole genome sequencing (WGS) is increasingly being adopted as a first-tier diagnostic tool for patients with NDD, in accordance with guidelines from the American College of Medical Genetics and Genomics (ACMG).
• The information available about the diagnostic yield of WGS for patients with NDD is growing but still relatively limited.
• In this study, we reviewed the diagnostic yield of WGS for patients presenting with various NDDs.