Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

Individuals with intellectual disability (ID) and/or neurodevelopmental disorders (NDD) are currently investigated several different approaches in clinical genetic diagnostics. To investigate the value of a genome-first approach we compared results from three diagnostic pipelines patients ID/NDD: (n=100), genome as secondary test (n=129) or chromosomal microarray (CMA) without FMR1 analysis (n=421). The yield was 35% (genome-first), 26% (genome test) and 11% (CMA/FMR1). Notably, age diagnosis delayed by 1 year when done cost per diagnosed individual 36% lower to CMA/FMR1. Furthermore, 91% those negative result after CMA/FMR1 (338 individuals) have not yet been referred for additional testing remain undiagnosed. Our findings strongly suggest that outperforms other strategies should replace traditional CMA first line individuals ID/NDD. Genome is sensitive, time effective method confirmed molecular all patients.