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Are We Capturing the Socioeconomic Burden of Rare Genetic Disease? A Scoping Review of Economic Evaluations and Cost-of-Illness Studies

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Abstract

Background and Objectives

Rare diseases have a significant impact on patients, families, the health system, and society. Measuring the socioeconomic burden is crucial to valuing interventions for rare diseases. Healthcare system costs are significant, but so are costs to other government sectors, patients, families, and society. To understand the breadth of costs captured in rare disease studies, we examined the cost categories and elements of socioeconomic burden captured in published studies.

Methods

A scoping review was conducted using five electronic databases to identify English language economic evaluations and cost-of-illness studies of interventions for rare diseases (2011–21). We mapped costs using a previously developed evidence-informed framework of socioeconomic burden costs for rare disease.

Results

Of 4890 studies identified, 48 economic evaluations and 22 cost-of-illness studies were included. While 18/22 cost-of-illness studies utilized a societal perspective, only 7/48 economic evaluations incorporated societal costs. Most reported cost categories related to medical costs, with medication and hospitalizations being the most common elements for both study designs. Costs borne by patients, families, and society were reported less among economic evaluations than cost-of-illness studies. These included: productivity (10% vs 77%), travel/accommodation (6% vs 68%), government benefits (4% vs 18%), and family impacts (0% vs 50%).

Conclusions

Contrary to cost-of-illness analyses, most of the included economic evaluations did not account for the hidden burden of rare diseases, that is, costs borne by patients, families, and societies. Including these types of costs in future studies would provide a more comprehensive picture of the burden of disease, providing empirical data to inform how we value and make decisions regarding rare disease interventions, health policy, and resource allocation.

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Acknowledgments

We acknowledge the assistance of Alexia Lee in data extraction. Deborah A. Marshall is supported by the Arthur J.E. Child Chair in Rheumatology (2012–22) and a Canada Research Chair in Health Systems and Services Research (2008–18).

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Authors and Affiliations

  1. Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada

    Deborah A. Marshall, Brittany Gerber, Diane L. Lorenzetti, Karen V. MacDonald, Riley Jewel Bohach & Gillian R. Currie

  2. McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, AB, Canada

    Deborah A. Marshall

  3. O’Brien Institute for Public Health, University of Calgary, Calgary, AB, Canada

    Deborah A. Marshall & Diane L. Lorenzetti

  4. Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, AB, Canada

    Deborah A. Marshall & Gillian R. Currie

  5. Health Sciences Library, University of Calgary, Calgary, AB, Canada

    Diane L. Lorenzetti

  6. Department of Pediatrics, University of Calgary, Room 3C56, Health Research Innovation Centre, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada

    Gillian R. Currie

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  1. Deborah A. Marshall
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Correspondence to Gillian R. Currie.

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Funding

This study was funded by a grant from the Canadian Institutes of Health Research (#429362). The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Conflicts of interest/competing interests

Gillian R. Currie, Brittany Gerber, Diane L. Lorenzetti, Karen V. MacDonald, and Riley Jewel Bohach have no conflicts of interest that are directly relevant to the content of this article. Deborah A. Marshall reports non-financial support from consultancy, Illumina, non-financial support from ISPOR, personal fees from Analytica, grants from Canadian Institutes of Health Research [CIHR]/Genome Ontario, grants from CIHR/Personalized Medicine in Inflammation Network, grants from CIHR/Genome Alberta, and grants from CIHR/Genome Canada, outside the submitted work.

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Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

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Authors’ contributions

All authors contributed to the study conception and design. Acquisition of data was performed by GC, BG, RJB and DL. All authors were involved in the analysis and/or interpretation of data. The first draft of the manuscript was prepared by GC, BG, RJB and DM, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Marshall, D.A., Gerber, B., Lorenzetti, D.L. et al. Are We Capturing the Socioeconomic Burden of Rare Genetic Disease? A Scoping Review of Economic Evaluations and Cost-of-Illness Studies. PharmacoEconomics 41, 1563–1588 (2023). https://doi.org/10.1007/s40273-023-01308-0

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