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A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders

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Abstract

Genetic disorders are clinically diverse and genetically heterogeneous, and are traditionally diagnosed based on an iterative phenotype-guided genetic assessment. However, such diagnostic approaches are long (diagnostic odysseys are common), misdiagnoses occur frequently, and diagnostic rates are low. Massively parallel sequencing (MPS) technologies may improve diagnostic rates and reduce the time to diagnosis for patients with suspected genetic disorders; however, MPS technologies are expensive and the health economic evidence base to support their use is limited. Several studies have compared the costs of traditional and MPS diagnostic pathways for patients with suspected genetic disorders, however costing methods and diagnostic scenarios are heterogeneous across studies. We conducted a literature review to identify and summarise information on these costing methods and diagnostic scenarios. Relevant studies were identified in MEDLINE, EMBASE, EconLit, University of York Centre for Reviews and Dissemination and the Cochrane Library, from 2010 to 2018. Twenty-four articles were included in the review. We observed considerable heterogeneity across studies with respect to the selection of items of resource use used to derive total diagnostic pathway cost estimates. We also observed structural differences in the diagnostic scenarios used to compare the traditional and MPS diagnostic pathways. There is a need for guidelines on the costing of diagnostic pathways to encourage the use of consistent methods. More micro-costing studies that evaluate diagnostic service delivery are also required. Greater homogeneity in costing approaches would facilitate more reliable comparisons between studies and improve the transferability of cost estimates across countries.

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Funding

PF is funded by the German Academic Scholarship Foundation. JB and SW are funded by the National Institute for Health Research Oxford Biomedical Research Centre.

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Authors and Affiliations

  1. Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Old Road Campus, Oxford, OX3 7LF, UK

    Patrick Fahr, James Buchanan & Sarah Wordsworth

  2. National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford, Oxford, UK

    James Buchanan & Sarah Wordsworth

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  1. Patrick Fahr
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  2. James Buchanan
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Contributions

PF initiated and led the study, designed the literature review, extracted and tabulated data, interpreted the results and drafted the manuscript. JB and SW assisted with the interpretation of the results, and reviewed and modified the manuscript for important intellectual content. All authors approved the final manuscript. PF acts as the overall guarantor for this work.

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Correspondence to Patrick Fahr.

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Conflict of interest

Patrick Fahr declares no conflicts of interest. James Buchanan and Sarah Wordsworth are co-applicants of a project funded through Genome British Columbia’s GeneSolve program and Illumina, and have received travel funding from Illumina to attend conferences.

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Fahr, P., Buchanan, J. & Wordsworth, S. A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders. PharmacoEconomics 38, 143–158 (2020). https://doi.org/10.1007/s40273-019-00856-8

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