Demographic and Geographic Considerations in Pediatric Genome Sequencing: A Diagnostic Laboratory Review

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.