Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence. Issue 4 (April 2022)

• Record Type: Journal Article
• Authors: Nurchis, Mario Cesare; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni; Bertini, Enrico Silvio; Tartaglia, Marco; Cicchetti, Americo; Dallapiccola, Bruno; Damiani, Gianfranco
• Is Part Of: Health policy. Volume 126:Issue 4(2022)
• Page Start: 337
• Page End: 345
• Publication Date: 2022-04
• Subjects: Whole-genome sequencing -- Whole-exome sequencing -- Genetic testing -- Pediatric population -- Cost-effectiveness -- Incremental net benefit; Medical education -- Periodicals; Medical policy -- Periodicals; Delivery of Health Care -- Periodicals; Education, Medical -- Periodicals; Health Education -- Periodicals; Health Planning -- Periodicals; Public Policy -- Periodicals; Enseignement médical -- Périodiques; Politique sanitaire -- Périodiques; Medical education; Medical policy; Periodicals; Electronic journals; Electronic journals; 362.1
• DOI: 10.1016/j.healthpol.2022.03.001
• Languages: English
• ISSNs: 0168-8510

Abstract

Abstract: Background: 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. Materials and methods: Articles were retrieved from PubMed, Web of Science, Embase and Scopus from 2015 to 2021. The dominance ranking matrix (DRM) tool was adopted to provide a qualitative synthesis of all the included studies. Incremental net benefits (INBs) were estimated and meta-analysis was implemented to pool INBs across studies. Results: The database search identified 1600 publications of which four articles were considered eligible for the meta-analysis. The pooled INB of WGS over WES was estimated at I$4073 (95% CI I$2426 – I$5720). The pooled INB of WGS over CMA amounted to I$6003 (95% CI I$2863 – I$9143). Conclusions: WGS could be cost-effective in the diagnostic workup of affected infants and children. Further economic evaluations however are needed for comparing WGS versus WES and confirm the present conclusions. Highlights: WGS could be cost-effective in diagnostic workup of affected infants and children. First-tier WGS could bend the cost trajectory of the diagnostic care pathway. Adoption of proper tools and methodologies to formulate evidence-based health policies.