Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review

Gillian R. Currie (), Brittany Gerber, Diane Lorenzetti, Karen MacDonald, Susanne M. Benseler, Francois P. Bernier, Kym M. Boycott, K. Vanessa Carias, Bettina Hamelin, Robin Z. Hayeems, Claire LeBlanc, Marinka Twilt, Gijs Rooijen, Durhane Wong-Rieger, Rae S. M. Yeung and Deborah A. Marshall
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Gillian R. Currie: University of Calgary
Brittany Gerber: University of Calgary
Diane Lorenzetti: University of Calgary
Karen MacDonald: University of Calgary
Susanne M. Benseler: University of Calgary
Francois P. Bernier: University of Calgary
Kym M. Boycott: Children’s Hospital of Eastern Ontario
K. Vanessa Carias: Genome Alberta
Bettina Hamelin: Ontario Genomics Institute
Robin Z. Hayeems: Child Health Evaluative Sciences, Hospital for Sick Children
Claire LeBlanc: McGill University
Marinka Twilt: University of Calgary
Gijs Rooijen: Genome Alberta
Durhane Wong-Rieger: Canadian Organization for Rare Disorders (CORD)
Rae S. M. Yeung: University of Toronto
Deborah A. Marshall: University of Calgary

PharmacoEconomics, 2023, vol. 41, issue 7, No 6, 803-818

Abstract: Abstract Background and Objective Rare diseases place a significant burden on patients, families, the healthcare system, and society. Evidence on the socioeconomic burden of rare disease is limited and mostly reflects diseases where treatments are available. We developed a framework encompassing recommended cost elements for studies of the socioeconomic burden of rare diseases. Methods A scoping review, conducted in five databases (Cochrane Library, EconLit, Embase, MEDLINE, and APA PsycINFO), identified English language publications from 2000 to 2021 presenting frameworks developed for determining, measuring or valuing costs for rare or chronic diseases. Cost elements were extracted and used to develop a literature-informed framework. Structured feedback was gathered from experts in rare diseases, health economics/health services, and policy research to revise the framework. Results Of 2990 records identified, eight papers were included and informed our preliminary framework; three focused on rare disease and five on chronic disease. Following expert input, we developed a framework consisting of nine cost categories (inpatient, outpatient, community, healthcare products/goods, productivity/education, travel/accommodation, government benefits, family impacts, and other), with several cost elements within each category. Our framework includes unique costs, added from the expert feedback, including genetic testing to inform treatment, use of private laboratories or out-of-country testing, family involvement in foundations and organizations, and advocacy costs for special access programs. Conclusions Our work is the first to identify a comprehensive list of cost elements for rare disease for use by researchers and policy makers to fully capture socioeconomic burden. Use of the framework will increase the quality and comparability of future studies. Future work should focus on measuring and valuing these costs through onset, diagnosis, and post-diagnosis.

Date: 2023
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DOI: 10.1007/s40273-023-01262-x

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