A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
cost-effectiveness
exome sequencing
genomic sequencing
monogenic
pediatric
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
23
04
2020
accepted:
27
07
2020
revised:
23
07
2020
pubmed:
11
8
2020
medline:
28
4
2021
entrez:
11
8
2020
Statut:
ppublish
Résumé
Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in pediatric patients with complex monogenic conditions compared with a matched historical cohort. Data, including investigation costs, were collected in a prospective cohort of 92 pediatric patients undergoing singleton GS over an 18-month period (2016-2017) with two of the following: a condition with high mortality, multisystem disease involving three or more organs, or severe limitation of daily function. Comparative data were collected in a matched historical cohort who underwent traditional investigations in the years 2012-2013. GS yielded a diagnosis in 42% while traditional investigations yielded a diagnosis in 23% (p = 0.003). A change in management was experienced by 74% of patients diagnosed following GS, compared with 32% diagnosed following traditional investigations. Singleton GS at a cost of AU$3100 resulted in a mean saving per person of AU$3602 (95% confidence interval [CI] AU$2520-4685). Cost savings occurred across all investigation subtypes and were only minimally offset by clinical management costs. GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.
Identifiants
pubmed: 32773771
doi: 10.1038/s41436-020-0929-8
pii: S1098-3600(21)00822-4
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1986-1993Références
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