Researchers at Karolinska Institutet have shown in a new study that genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. These findings are published in Genetics in Medicine.
Individuals with intellectual disability (ID) and/or neurodevelopmental disorders (NDD) are currently investigated with several different approaches in clinical genetic diagnostics. In this study the scientists compared the results from three diagnostic pipelines in patients with ID/NDD; genome-first (n=100), genome as a secondary test (n=129) or chromosomal microarray (CMA) with or without FMR1 analysis (n=421).
The diagnostic yield was 35% (genome-first), 26% (genome as a secondary test) and 11% (CMA/FMR1). Notably, the age of diagnosis was delayed by one year when genome was done as a secondary test and the cost per diagnosed individual was 36% lower with genome-first compared to CMA/FMR1. Furthermore, 91% of those with a negative result after CMA/FMR1 analysis (338 individuals) have not yet been referred for additional genetic testing and remain undiagnosed.
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