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

Author:

Currie Gillian R.ORCID,Gerber BrittanyORCID,Lorenzetti DianeORCID,MacDonald KarenORCID,Benseler Susanne M.ORCID,Bernier Francois P.ORCID,Boycott Kym M.ORCID,Carias K. Vanessa,Hamelin Bettina,Hayeems Robin Z.ORCID,LeBlanc Claire,Twilt MarinkaORCID,van Rooijen Gijs,Wong-Rieger DurhaneORCID,Yeung Rae S. M.ORCID,Marshall Deborah A.ORCID

Funder

Canadian Institutes of Health Research

Publisher

Springer Science and Business Media LLC

Subject

Public Health, Environmental and Occupational Health,Health Policy,Pharmacology

Reference40 articles.

1. NIH: National Center for Advancing Translational Sciences. About GARD [Internet]. GARD Genet. Rare Dis. Inf. Cent. https://rarediseases.info.nih.gov/about. Accessed 8 June 2022.

2. Orphanet. About Rare Diseases [Internet]. https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN. Accessed 8 June 2022.

3. Lamoreaux K, Lefebvre S, Levine S, Erler W, Hume T. The power of being counted [Internet]. Rare-X; 2022. https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf. Accessed 5 April 2023.

4. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–73. https://doi.org/10.1038/s41431-019-0508-0.

5. Hayeems RZ, Michaels-Igbokwe C, Venkataramanan V, Hartley T, Acker M, Gillespie M, et al. The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence. Genet Med. 2022;24:694–702. https://doi.org/10.1016/j.gim.2021.11.005.

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