Genetic Test Evaluation

understanding how genetic tests impact patient management


November 9, 2017

According to the Centers for Disease Control and Prevention (CDC), approximately 1 in 6 children in the United States had a developmental disability in 2006-2008, ranging from mild disabilities, such as speech and language impairments to serious developmental disabilities, such as intellectual disabilities (IDs), cerebral palsy, and autism. Autism spectrum disorder (ASD) has been identified in 1 in 68 children, according to estimates from the CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network. ASD may occur as an isolated disorder or be part of a genetic syndrome featuring multiple physical abnormalities. Genetic factors have been associated with neurodevelopmental disorders, including ASD, and gene panels have been designed to evaluate these many factors. One such panel is the AutismNext panel, which is a high-throughput analysis of 48 genes that have been identified by the company as commonly associated with isolated and syndromic ASD. The primary goal of the testing is to identify a genetic cause of autism, allowing for diagnosis, treatment, and provision of information to patients and their families. This report does not broadly address gene panel testing or specific gene associations for ASD.