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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

Author

Listed:
  • 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.

Suggested Citation

  • 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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    References listed on IDEAS

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