Clinical Sequencing Yield In Epilepsy, Autism Spectrum Disorder, And Intellectual Disability: A Syst

Across neurodevelopmental disorders (NDDs), researchers assessed the success rate (diagnostic yield) of clinical sequencing through next‐generation sequencing (NGS) in this meta‐analysis and systematic review, and compared the genetic testing yield across NDD subtypes and sequencing technology. Researchers conducted a systematic review of the PubMed literature until May 2020 to identify 103 studies (epilepsy, N = 72; ASD, N = 14; ID, N = 21) with 32,331 individuals. Results give a comprehensive overview of clinical sequencing studies of NDDs and will help guide policymaking and steer decision‐making in patient management in the meta-analysis. The diagnostic yield was 17.1% for ASD, 24% for epilepsy, and 28.2% for ID (23.7% overall), given highly selected patient cohorts. If not statistically significant the diagnostic yield for exome sequencing was higher than for panel sequencing.

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