Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
Rattachement africain : ca, gb. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Importance: Etiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs. Objective: To measure changes in health care costs after diagnosis from GWS for Canadian and English children with suspected rare diseases. Design, Setting, and Participants: This cohort study was a quasiexperimental retrospective analysis across 3 distinct English and Canadian cohorts, completed in 2023. Mixed-effects generalized linear regression was used to estimate associations between GWS and costs in the 2 years before and after GWS. Difference-in-differences regression was used to estimate associations of genetic diagnosis and costs. Costs are in 2019 US dollars. GWS was conducted in a research setting (Genomics England 100 000 Genomes Project [100KGP] and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service [CAUSES] Research Clinic) or clinical outpatient setting (publicly reimbursed GWS in British Columbia [BC], Canada). Participants were children with developmental disorders, seizure disorders, or both undergoing GWS between 2014 and 2019. Data were analyzed from April 2021 to September 2023. Exposures: GWS and genetic diagnosis. Main Outcomes and Measures: Annual health care costs and diagnostic costs per child. Results: Study cohorts included 7775 patients in 100KGP, among whom 788 children had epilepsy (mean [SD] age at GWS, 11.6 [11.1] years; 400 female [50.8%]) and 6987 children had an intellectual disability (mean [SD] age at GWS, 8.2 [8.4] years; 2750 female [39.4%]); 77 patients in CAUSES (mean [SD] age at GWS, 8.5 [4.4] years; 33 female [42.9%]); and 118 publicly reimbursed GWS recipients from BC (mean [SD] age at GWS, 5.5 [5.2] years; 58 female [49.2%]). GWS diagnostic yield was 143 children (18.1%) for those with epilepsy and 1323 children (18.9%) for those with an intellectual disability in 100KGP, 47 children (39.8%) in the BC publicly reimbursed setting, and 42 children (54.5%) in CAUSES. Mean annual per-patient spending over the study period was $5283 (95% CI, $5121-$5427) for epilepsy and $3373 (95% CI, $3322-$3424) for intellectual disability in the 100KGP, $724 (95% CI, $563-$886) in CAUSES, and $1573 (95% CI, $1372-$1773) in the BC reimbursed setting. Receiving a genetic diagnosis from GWS was not associated with changed costs in any cohort. Conclusions and Relevance: In this study, receiving a genetic diagnosis was not associated with cost savings. This finding suggests that patient benefit and cost-effectiveness should instead drive GWS implementation.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
- Date Crossref
- 10/07/2024
- Éditeur
- American Medical Association (AMA)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Simon Fraser University pays non établi dans la noticeUniversité ou école supérieure
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National Institute for Health and Care Research pays non établi dans la noticeOrganisme public
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University of Oxford Health Economics Research Centre pays non établi dans la noticeUniversité ou école supérieure
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NIHR Biomedical Research Centre at The Royal Marsden and the ICR pays non établi dans la noticeStructure de recherche
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University of British Columbia Department of Medical Genetics pays non établi dans la noticeUniversité ou école supérieure
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BC Children's Hospital Division of Biochemical Genetics pays non établi dans la noticeÉtablissement de santé
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BC Children's Hospital Research Institute pays non établi dans la noticeUniversité ou école supérieure
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BC Cancer Research Institute Cancer Control Research pays non établi dans la noticeStructure de recherche
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Faculty of Health Sciences pays non établi dans la noticeUniversité ou école supérieure
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National Institute for Health Research Biomedical Research Centre pays non établi dans la noticeStructure de recherche
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Faculty of Medicine Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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School of Population and Public Health pays non établi dans la noticeUniversité ou école supérieure
Simon Fraser University, National Institute for Health and Care Research et Health Economics Research Centre — University of Oxford, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.