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; Gianfranco Damiani

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

Health Policy. 2022 Apr;126(4):337-345. doi: 10.1016/j.healthpol.2022.03.001. Epub 2022 Mar 4.

Authors

Mario Cesare Nurchis¹, Maria Teresa Riccardi², Francesca Clementina Radio³, Giovanni Chillemi⁴, Enrico Silvio Bertini³, Marco Tartaglia³, Americo Cicchetti⁵, Bruno Dallapiccola³, Gianfranco Damiani⁶

Affiliations

¹ Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy; Advanced School of Health Economics and Management (ALTEMS), Faculty of Economics, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
² Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168 Rome, Italy. Electronic address: mt.riccardi@gmail.com.
³ Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, 00146 Rome, Italy.
⁴ Department for Innovation in Biological Agro-food and Forest systems (DIBAF), University of Tuscia, 01100 Viterbo, Italy; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Centro Nazionale delle Ricerche, 70126 Bari, Italy.
⁵ Advanced School of Health Economics and Management (ALTEMS), Faculty of Economics, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
⁶ Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy; Department of Health Sciences and Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

PMID: 35317923
DOI: 10.1016/j.healthpol.2022.03.001

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.

Keywords: Cost-effectiveness; Genetic testing; Incremental net benefit; Pediatric population; Whole-exome sequencing; Whole-genome sequencing.

Publication types

Meta-Analysis
Review
Systematic Review

MeSH terms

Child
Cost-Benefit Analysis*
Exome Sequencing / methods
Humans
Infant
Infant, Newborn
Whole Genome Sequencing / methods