Background
- Rare disease diagnosis continues to improve as genetic testing becomes more comprehensive and accessible to patients and providers.
- Guidelines from professional organizations such as the American College of Medical Genetics and Genomics (ACMG) and American Academy of Pediatrics (AAP) have strengthened access to comprehensive genetic testing by endorsing genome sequencing (GS) and exome sequencing (ES) as first-tier genetic tests for pediatric patients with congenital anomalies (CA), developmental delays (DD), and intellectual disability (ID).
- Additional GS and ES guidelines specific to adult patients, especially those that became adults before the availability of clinical GS and ES, could help clinicians and payors better serve adult patients through increased access, diagnostic yield, and faster turn around time to results.
- We present a case series of adult patients whose long diagnostic odysseys were ultimately resolved by GS or ES.
