Introduction
- Despite growing evidence that genome sequencing (GS) increases diagnostic yield five-fold compared with usual care (38.6% versus 7.8%), many children still undergo lengthy testing odysseys before receiving sequencing.
- Multiple societies have recommended GS as first-tier testing for pediatric patients with intellectual disability, developmental delays, congenital anomalies, epilepsy, and other clinical indications.
- While this guidance allows for faster diagnoses and improved care, access currently remains uneven due to limited local access to GS.
