Background
• Medical professional organizations such as the American College of Medical Genetics and Genomics (ACMG)
and American Academy of Pediatrics (AAP) have endorsed genome sequencing (GS) and exome sequencing (ES) as first-tier genetic tests for pediatric patients with congenital anomalies, developmental delays (DD), and intellectual disability (ID).
• While there is ample literature on the diagnostic utility of GS/ES for pediatric patients, literature on adult cohorts is more limited.
• Adult cohorts are often of limited size, within a single healthcare system, and/or focused on specific indications.
• We present analysis of diagnostic yields and other trends within an adult cohort tested by GS/ES at our clinical diagnostics laboratory.
