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 van Rooijen; Durhane Wong-Rieger; Rae S M Yeung; Deborah A Marshall

doi:10.1007/s40273-023-01262-x

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

Pharmacoeconomics. 2023 Jul;41(7):803-818. doi: 10.1007/s40273-023-01262-x. Epub 2023 Apr 7.

Authors

Gillian R Currie^{1

2

3}, Brittany Gerber⁴, Diane Lorenzetti^{4

5}, Karen MacDonald⁴, Susanne M Benseler^{6

7

8}, Francois P Bernier^{7

9}, Kym M Boycott^{10

11}, K Vanessa Carias¹², Bettina Hamelin¹³, Robin Z Hayeems^{14

15}, Claire LeBlanc¹⁶, Marinka Twilt¹⁷, Gijs van Rooijen¹², Durhane Wong-Rieger¹⁸, Rae S M Yeung¹⁹, Deborah A Marshall^{4

7

20

21}

Affiliations

¹ Department of Pediatrics, Health Research Innovation Centre, University of Calgary, Room 3C56, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada. currie@ucalgary.ca.
² Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada. currie@ucalgary.ca.
³ Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada. currie@ucalgary.ca.
⁴ Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada.
⁵ Health Sciences Library, University of Calgary, Calgary, AB, Canada.
⁶ Department of Pediatrics, Health Research Innovation Centre, University of Calgary, Room 3C56, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada.
⁷ Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
⁸ Alberta Health Services, Calgary, AB, Canada.
⁹ Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.
¹⁰ Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
¹¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
¹² Genome Alberta, Calgary, AB, Canada.
¹³ Ontario Genomics Institute, Toronto, ON, Canada.
¹⁴ Child Health Evaluative Sciences, Hospital for Sick Children, Toronto, ON, Canada.
¹⁵ Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.
¹⁶ Department of Pediatrics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
¹⁷ Department of Pediatrics, Cumming School of Medicine, McCaig Institute for Bone and Joint Health, and the Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.
¹⁸ Canadian Organization for Rare Disorders (CORD), Toronto, ON, Canada.
¹⁹ Departments of Paediatrics, Immunology and Medical Science, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
²⁰ McCaig Institute for Bone and Joint Health, University of Calgary, Calgary, AB, Canada.
²¹ O'Brien Institute for Public Health, University of Calgary, Calgary, AB, Canada.

PMID: 37029233
DOI: 10.1007/s40273-023-01262-x

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.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Chronic Disease
Delivery of Health Care*
Humans
Rare Diseases* / therapy
Socioeconomic Factors

Grants and funding

429362/CIHR/Canada