Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Glen R MonroeGerardus W FrederixSanne M C SavelbergTamar I de VriesKaren J DuranJasper J van der SmagtPaulien A TerhalPeter M van HasseltHester Y KroesNanda M Verhoeven-DuifIsaäc J NijmanEllen C CarboKoen L van GassenNine V KnoersAnke M HövelsMieke M van HaelstGepke VisserGijs van HaaftenPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics. This information is crucial for centers considering implementation of WES and serves as input for future value-based research into diagnostics.Genet Med 18 9, 949-956.