Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism

Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, gene panels, marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate.

Automated summary

This study evaluates the clinical utility of gene panels marketed for use in autism and finds that the diagnostic yields range from 0.22% to 10.02%. The gene selection for these panels also varies in relevance, measured as the overlap percentage with SFARI Gene, ranging from 15.15% to 100%. The study concludes that the current gene panels for autism have limited clinical utility and suggests that sequencing with greater coverage may be more appropriate.