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- Title
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
- Authors
Nurchis, Mario Cesare; Radio, Francesca Clementina; Salmasi, Luca; Heidar Alizadeh, Aurora; Raspolini, Gian Marco; Altamura, Gerardo; Tartaglia, Marco; Dallapiccola, Bruno; Pizzo, Elena; Gianino, Maria Michela; Damiani, Gianfranco
- Abstract
This economic evaluation estimates the cost-effectiveness of whole-genome sequencing compared with whole-exome sequencing and conventional testing in children with suspected genetic disorders over their lifetime. Key Points: Question: Is whole-genome sequencing (WGS) more cost-effective than whole-exome sequencing for children with suspected genetic disorders? Findings: The results of this economic evaluation of a cohort of 870 pediatric patients suggest that adopting WGS as a first-tier strategy would be cost-effective at a willingness-to-pay threshold of €30 000 to €50 000 (US $32 625-$54 375), specifically for the diagnosis of severely ill infants with suspected genetic disorders. Meaning: These findings suggest that wider use of WGS may minimize diagnostic delays and facilitate timely implementation of appropriate treatments. Importance: The diagnosis of rare diseases and other genetic conditions can be daunting due to vague or poorly defined clinical features that are not recognized even by experienced clinicians. Next-generation sequencing technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), have greatly enhanced the diagnosis of genetic diseases by expanding the ability to sequence a large part of the genome, rendering a cost-effectiveness comparison between them necessary. Objective: To assess the cost-effectiveness of WGS compared with WES and conventional testing in children with suspected genetic disorders. Design, Setting, and Participants: In this economic evaluation, a bayesian Markov model was implemented from January 1 to June 30, 2023. The model was developed using data from a cohort of 870 pediatric patients with suspected genetic disorders who were enrolled and underwent testing in the Ospedale Pediatrico Bambino Gesù, Rome, Italy, from January 1, 2015, to December 31, 2022. The robustness of the model was assessed through probabilistic sensitivity analysis and value of information analysis. Main Outcomes and Measures: Overall costs, number of definitive diagnoses, and incremental cost-effectiveness ratios per diagnosis were measured. The cost-effectiveness analyses involved 4 comparisons: first-tier WGS with standard of care; first-tier WGS with first-tier WES; first-tier WGS with second-tier WES; and first-tier WGS with second-tier WGS. Results: The ages of the 870 participants ranged from 0 to 18 years (539 [62%] girls). The results of the analysis suggested that adopting WGS as a first-tier strategy would be cost-effective compared with all other explored options. For all threshold levels above €29 800 (US $32 408) per diagnosis that were tested up to €50 000 (US $54 375) per diagnosis, first-line WGS vs second-line WES strategy (ie, 54.6%) had the highest probability of being cost-effective, followed by first-line vs second-line WGS (ie, 54.3%), first-line WGS vs the standard of care alternative (ie, 53.2%), and first-line WGS vs first-line WES (ie, 51.1%). Based on sensitivity analyses, these estimates remained robust to assumptions and parameter uncertainty. Conclusions and Relevance: The findings of this economic evaluation encourage the development of policy changes at various levels (ie, macro, meso, and micro) of international health systems to ensure an efficient adoption of WGS in clinical practice and its equitable access.
- Subjects
ITALY; GENETIC disorder diagnosis; SEQUENCE analysis; GENETIC testing; COST effectiveness; GENOMES; DESCRIPTIVE statistics; RESEARCH funding; PROBABILITY theory
- Publication
JAMA Network Open, 2024, Vol 7, Issue 1, pe2353514
- ISSN
2574-3805
- Publication type
Article
- DOI
10.1001/jamanetworkopen.2023.53514