Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care

Crawford, S.; Gong, Chen; Yieh, Leah; Randolph, Linda M.; Hay, Joel W.

doi:10.1038/s41436-021-01210-0

Cited by 5 publications

(20 citation statements)

References 34 publications

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“…In the second stage, based on the title and abstract of the articles, 20 149 studies were excluded, and in the third stage, after careful study of the text of the remaining studies, 336 studies were eliminated. Finally, 36 studies which had examined the economic evaluation of NGS methods in the diagnosis of genetic diseases were included in this review 2,14–45 . Figure 1 shows the process of searching for studies.…”

Section: Resultsmentioning

confidence: 99%

“…Seven studies were performed on the lifetime time horizon 15–18,24,40,47 . In addition, a number of studies were conducted in the time horizons of 1 year ( n = 5), 2,23,27,29,31 2 years ( n = 1), 45 3 years ( n = 3), 30,32,44 5 years ( n = 1), 26 18 years ( n = 1), 21 20 years ( n = 1), 37 25 years ( n = 2), 20,48 30 years ( n = 1), 28 437 days ( n = 1), 39 and 1315 days ( n = 1) 14 . Thirteen studies were conducted based on modeling 14,16,18–21,24–29,31,32,35,40,45 .…”

Section: Resultsmentioning

confidence: 99%

“…The willingness‐to‐pay thresholds were reported AUS$30 000–64 000 dollars per QALY in Australia 28,37 . In the United States, the willingness‐to‐pay thresholds were considered to be between US$50 000 and US$100 000 20,24 . In the UK, the thresholds for willingness to pay were reported to be 20 000–30 000 pounds per QALY in the analysis 2,40 .…”

Section: Resultsmentioning

confidence: 99%

“…Table S3 shows the cost‐effectiveness findings of new generation sequencing techniques in the diagnosis of genetic diseases. Nineteen cost‐effectiveness studies of NGS techniques in the diagnosis of genetic disorders in pediatrics were conducted 14,20–23,25–27,29,36–39,41–44,47 . Table 2 shows the population of these studies.…”

Section: Resultsmentioning

confidence: 99%

“…For example, in the study of Kodabuckus et al, the cost of exome sequencing is estimated at $8442 over a 1‐year time horizon 29 . In addition, in the study of Crawford et al, in the time horizon of lifetime, the cost per diagnosis in the exome sequencing strategy was reported to be $250 778 20 …”

Section: Discussionmentioning

confidence: 99%

See 4 more Smart Citations

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

et al. 2023

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In recent years, massively parallel sequencing or next generation sequencing (NGS) has considerably changed both the research and diagnostic fields, and rapid developments have led to the combination of NGS techniques in clinical practice, ease of analysis, and detection of genetic mutations. This article aimed at reviewing the economic evaluation studies of the NGS techniques in the diagnosis of genetic diseases. In this systematic review, scientific databases (PubMed, EMBASE, Web of Science, Cochrane, Scopus, and CEA registry) were searched from 2005 to 2022 to identify the related literature on the economic evaluation of NGS techniques in the diagnosis of genetic diseases. Full-text reviews and data extraction were all performed by two independent researchers. The quality of all the articles included in this study was evaluated using the Checklist of Quality of Health Economic Studies (QHES). Out of 20 521 screened abstracts, 36 studies met the inclusion criteria. The mean score of the QHES checklist for the studies was 0.78 (high quality). Seventeen studies were conducted based on modeling. Costeffectiveness analysis, cost-utility analysis, and cost-minimization analysis were done in 26 studies, 13 studies, and 1 study, respectively. Based on the available evidence and

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

et al. 2023

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Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Ferket

Baldwin²,

Murali³

et al. 2022

Genetics in Medicine

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Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation

Dulsamphan,

Juntama,

Suwanpanich

et al. 2023

Int J Technol Assess Health Care

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Objectives: The purpose of this study is to evaluate the validity of the standard approach in expert judgment for evaluating precision medicines, in which experts are required to estimate outcomes as if they did not have access to diagnostic information, whereas in fact, they do. Methods: Fourteen clinicians participated in an expert judgment task to estimate the cost and medical outcomes of the use of exome sequencing in pediatric patients with intractable epilepsy in Thailand. Experts were randomly assigned to either an "unblind" or "blind" group; the former was provided with the exome sequencing results for each patient case prior to the judgment task, whereas the latter was not provided with the exome sequencing results. Both groups were asked to estimate the outcomes for the counterfactual scenario, in which patients had not been tested by exome sequencing. Results: Our study did not show significant results, possibly due to the small sample size of both participants and case studies. Conclusions: A comparison of the unblind and blind approach did not show conclusive evidence that there is a difference in outcomes. However, until further evidence suggests otherwise, we recommend the blind approach as preferable when using expert judgment to evaluate precision medicines because this approach is more representative of the counterfactual scenario than the unblind approach.

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Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care

Cited by 5 publications

References 34 publications

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation

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