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

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dc.contributor.authorMarshall, Deborah A.
dc.contributor.authorGerber, Brittany
dc.contributor.authorLorenzetti, Diane L.
dc.contributor.authorMacDonald, Karen V.
dc.contributor.authorBohach, Riley J.
dc.contributor.authorCurrie, Gillian R.
dc.date.accessioned2024-08-19T15:56:41Z
dc.date.available2024-08-19T15:56:41Z
dc.date.issued2023-12
dc.description.abstractObjectives: Rare diseases have a significant impact on patients, families, the health system, and society. Measuring the socioeconomic burden (SEB) 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 SEB 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 (2011-2021). We mapped costs using a previously developed evidence-informed framework of SEB 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 disease, 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.
dc.description.grantingagencyCanadian Institutes of Health Research (CIHR)
dc.identifier.citationMarshall, 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
dc.identifier.doihttps://doi.org/10.1007/s40273-023-01308-0
dc.identifier.grantnumber429362
dc.identifier.urihttps://hdl.handle.net/1880/119433
dc.language.isoen
dc.publisherPharmacoEconomics
dc.publisher.hasversionacceptedVersion
dc.publisher.institutionUniversity of Calgary
dc.rightsThis version of the article has been accepted for publication, after peer review (when applicable) but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: https://doi.org/10.1007/s40273-023-01308-0. Use of this Accepted Version is subject to the publisher’s Accepted Manuscript terms of use https://www.springernature.com/gp/openresearch/policies/acceptedmanuscript-terms
dc.titleAre we Capturing the Socioeconomic Burden of Rare Genetic Disease? A Scoping Review of Economic Evaluation and Cost-of-Illness Studies
dc.title.alternativeAre we Capturing the Socioeconomic Burden of Rare Genetic Disease?
dc.typeArticle
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