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

Author:

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

Funder

Canadian Institutes of Health Research

Publisher

Springer Science and Business Media LLC

Subject

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

Reference119 articles.

1. Orphanet. About rare diseases. https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN. Accessed 8 June 2022.

2. Ferreira CR. The burden of rare diseases. Am J Med Genet A. 2019;179:885–92.

3. NIH: National Center for Advancing Translational Sciences. About GARD. GARD Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/about. Accessed 8 June 2022.

4. Lamoreaux K, Lefebvre S, Levine S, Erler W, Hume T. The power of being counted. Rare-X; 2022. https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf. Accessed 1 Aug 2023.

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.

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