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

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

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.

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  • Nurchis, Mario Cesare & Riccardi, Maria Teresa & Radio, Francesca Clementina & Chillemi, Giovanni & Bertini, Enrico Silvio & Tartaglia, Marco & Cicchetti, Americo & Dallapiccola, Bruno & Damiani, Gian, 2022. "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, Elsevier, vol. 126(4), pages 337-345.
    • Handle: RePEc:eee:hepoli:v:126:y:2022:i:4:p:337-345
    DOI: 10.1016/j.healthpol.2022.03.001
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    1. Tracy Yuen & Melissa T. Carter & Peter Szatmari & Wendy J. Ungar, 2018. "Cost-effectiveness of Genome and Exome Sequencing in Children Diagnosed with Autism Spectrum Disorder," Applied Health Economics and Health Policy, Springer, vol. 16(4), pages 481-493, August.
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    1. Mario Cesare Nurchis & Francesca Clementina Radio & Luca Salmasi & Aurora Heidar Alizadeh & Gian Marco Raspolini & Gerardo Altamura & Marco Tartaglia & Bruno Dallapiccola & Gianfranco Damiani, 2024. "Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 25(6), pages 999-1011, August.

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