Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence

Nurchis, Mario Cesare; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni; Bertini, Enrico Silvio; Tartaglia, Marco; Cicchetti, Americo; Dallapiccola, Bruno; Damiani, Gianfranco

doi:10.1016/j.healthpol.2022.03.001

Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence

Author(s)

Nurchis, Mario Cesare

Riccardi, Maria Teresa

Radio, Francesca Clementina

Chillemi, Giovanni

Bertini, Enrico Silvio

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Date Issued

2022

Type

article

DOI

10.1016/j.healthpol.2022.03.001

Journal

HEALTH POLICY

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.

Handle

http://hdl.handle.net/2067/47349