The price of whole genome sequencing (WGS) and whole exome sequencing (WES) is approaching the point where the cost-effectiveness for the technology may trump conventional testing strategies for the evaluation of children with neurodevelopmental disorders (NDDs), according to a study published in Science Translational Medicine Dec. 3, 2014. While this is not the first study to show that WGS and WES can improve the diagnostic yield over traditional molecular methods, this is one of the first studies to pinpoint a price linked to the cost-effectiveness of sequencing. The cost-effectiveness estimates and the time savings to diagnosis associated with WGS/WES lead the authors to conclude initial diagnostic evaluation of children with NDDs should include trio WGS or WES testing. “WGS and WES provided prompt diagnoses in a substantial minority of children with NDD who were undiagnosed despite extensive diagnostic evaluations,” the authors summarize. “Preliminary analyses suggested that WES was less costly than continued conventional diagnostic testing of children with NDD in whom initial testing failed to yield a diagnosis.” So called diagnostic odysseys for an underlying cause of NDD are notoriously lengthy and costly, and frequently fail to yield a definitive diagnosis in more than half of patients. Primary tests currently […]