Global Pediatric Medicine: Low Rates of Genetic Testing in Children with Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders
The first of two papers published show the variation in the use of genetic testing for patients with intellectual disability and developmental delay (ID/DD). The follow-up paper, “Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices”, showed improvement in overall diagnosis and treatment scores, including improvements in condition-specific interventions and referrals that were leveraged for clinical utility.