Children's Mercy Study Assesses Clinical, Cost-Effectiveness of Diagnostic Exome, Genome Sequencing

Dec 03, 2014

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NEW YORK (GenomeWeb) – Researchers at Children's Mercy in Kansas City have assessed the clinical utility and cost-effectiveness of exome and genome sequencing for diagnosis in a retrospective study of 119 children with neurodevelopmental disorders.

Based on their results, they suggested that trio exome and genome sequencing should be used early in the diagnostic process, rather than as a last resort, and that fast genome sequencing should be used in urgent cases.

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