Introduction
- Genome sequencing (GS) is increasingly utilized as a first-tier diagnostic tool for patients with suspected
genetic disorders. - The American Academy of Pediatrics and the American College of Medical Genetics and Genomics
recommended GS as a first-tier diagnostic test for children with intellectual disability, global developmental delay, and congenital anomalies. - These guidelines help facilitate the early identification of genetic conditions, moving comprehensive
sequencing from specialty-based testing to a standard component of pediatric evaluation. - However, with the potential shift in ordering patterns of GS, the present utilization remains
under-characterized at a population level.
