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

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

Health Policy, 2022, vol. 126, issue 4, 337-345

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.

Keywords: Whole-genome sequencing; Whole-exome sequencing; Genetic testing; Pediatric population; Cost-effectiveness; Incremental net benefit (search for similar items in EconPapers)
Date: 2022
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Citations: View citations in EconPapers (1)

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Persistent link: https://EconPapers.repec.org/RePEc:eee:hepoli:v:126:y:2022:i:4:p:337-345

DOI: 10.1016/j.healthpol.2022.03.001

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