Please use this identifier to cite or link to this item: http://hdl.handle.net/2067/47349
Title: Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence
Authors: Nurchis, Mario Cesare
Riccardi, Maria Teresa
Radio, Francesca Clementina
Chillemi, Giovanni 
Bertini, Enrico Silvio
Tartaglia, Marco
Cicchetti, Americo
Dallapiccola, Bruno
Damiani, Gianfranco
Journal: HEALTH POLICY 
Issue Date: 2022
Abstract: 
The introduction of massive parallel sequencing has contributed to a decline in sequencing costs. In recent years, whole-exome sequencing (WES) and whole-genome sequencing (WGS) have been increasingly adopted for diagnostic purposes in individuals with suspected genetic diseases. However, a debate is still ongoing in the scientific community about the superiority of WGS over WES in terms of cost-effectiveness. The aim of this study is to assess whether WGS, for the pediatric population with suspected genetic disorders, is cost-effective with respect to WES and chromosomal microarray (CMA) by pooling incremental net benefits.
URI: http://hdl.handle.net/2067/47349
ISSN: 0168-8510
DOI: 10.1016/j.healthpol.2022.03.001
Appears in Collections:A1. Articolo in rivista

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