The DOI matches its Crossref record; 103 of the 103 references it cites were found in a registry or an index.
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
Open accessAbstract
This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.
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![Figure 1 Number of people affected by RDs across regions. Source: Elaborated by authors based on overviewed literature [26,27,28,29,30,31,32,33,34]. The estimated values depend on data availability and local diagnostic and tracking capacity.](/paper-figures/2b4011b8c6764bd3b3d7d4e6edb4457b/enhancing-equitable-access-to-rare-disease-diagnosis-and-treatment-around-the-figure-1.jpg)
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“delays in diagnosis lead to delays in treatment and poor prognosis7,8.”
From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [7]
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In the citing paper
“Timely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world”
From Enhancing diagnostic capability with multi-agents conversational large language models (2025) · cites this paper as [7]
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Citations
Cites
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Le Cam, Y., & Rath, A. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-019-0508-0 · Cited by 1,752 · cited 27×
“Nonetheless, with new initiatives being undertaken in Africa, concerns regarding the ethical use and management of genetic samples have increased.”
BackgroundInfluentialHealth-system reform and universal health coverage in Latin America
Atun, R. A., de Andrade, L. O. M., Almeida, G., Cotlear, D., Dmytraczenko, T., Frenz, P., Garcia, P. J., Gómez‐Dantés, O., Knaul, F. M., Muntaner, C., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(14)61646-9 · Cited by 898
Quality of Life in Chronic Disease Patients
Megari, K. (2013) · Health Psychology Research · doi:10.4081/hpr.2013.932 · Cited by 895
Richter, T. A., Nestler-Parr, S., Babela, R., Khan, Z., Tesoro, T., Molsen, E., & Hughes, D. A. (2015) · Value in Health · doi:10.1016/j.jval.2015.05.008 · Cited by 595 · cited 1×
“Such definitions are expressed as a fraction, a percentage, or the number of cases per population (whether that be from 10,000 or 100,000 people) [1].”
BackgroundThe High Cost of Prescription Drugs in the United States: Origins and Prospects for Reform
Kesselheim, A. S., Avorn, J., & Sarpatwari, A. (2016) · JAMA · doi:10.1001/jama.2016.11237 · Cited by 592
How many rare diseases are there?
Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., et al. (2020) · Nature Reviews Drug Discovery · doi:10.1038/d41573-019-00180-y · Cited by 554 · cited 1×
“There are about 5000 to 8000 RDs identified globally [5], varying regarding their origins, risk factors, symptoms and treatments, and geographical dispersion [6].”
BackgroundHow Health Insurance Design Affects Access To Care And Costs, By Income, In Eleven Countries
Schoen, C., Osborn, R., Squires, D. A., Doty, M. M., Pierson, R., & Applebaum, S. (2010) · Health Affairs · doi:10.1377/hlthaff.2010.0862 · Cited by 529 · cited 1×
“This situation, however, is not exclusive to RD patients, as there is evidence of significant differences in access and affordability by income in the United States overall [89].”
BackgroundLiving with a rare disorder: a systematic review of the qualitative literature
von der Lippe, C., Diesen, P. S., & Feragen, K. B. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.315 · Cited by 378
Socio-economic burden of rare diseases: A systematic review of cost of illness evidence
Angelis, A., Tordrup, D., & Kanavos, P. G. (2014) · Health Policy · doi:10.1016/j.healthpol.2014.12.016 · Cited by 317 · cited 2×
“The treatment and care of RD patients carry a substantial economic burden [20] and controlling these prices to provide adequate disease management and ensure the financial sustainability of health systems is challenging.”
BackgroundDrug Repurposing for Rare Diseases
Roessler, H. I., Knoers, N. V. A. M., van Haelst, M. M., & van Haaften, G. W. (2021) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2021.01.003 · Cited by 290 · cited 1×
“This is a timesaving, cost-efficient method that can accelerate the development of RDs treatments [59].”
Method
Research works printed but not linked: 5
- American Association for the Advancement of Science (2022, August 04). 7000 Challenges: The Basis and Burden of Rare Diseases [Internet]. Available online: https://www.science.org/content/webinar/7000-challenges-basis-and-burden-rare-diseases.
- Linertová, R., García-Pérez, L., and Gorostiza, I. (2017). Rare Diseases Epidemiology: Update and Overview, Springer.
- Adamek, M.E., Chane, S., and Kotecho, M.G. (2020). Health and Care in Old Age in Africa, Routledge.
- Office of the United Nations High Commissioner for Human Rights (2023, January 30). Experts of the Committee on the Rights of Persons with Disabilities Commend China on Reforms Made since the Initial Review, Ask Questions on the Independence of Persons with Disabilities in the Community and on Home Schooling [Internet]. Available online: https://www.ohchr.org/en/news/2022/08/experts-committee-rights-persons-disabilities-commend-china-reforms-made-initial.
- Vickers, 2013, Challenges and Opportunities in the Treatment of Rare Diseases, Drug Discov. World, 14, 9
Cited by
Sorted by citations
Enhancing diagnostic capability with multi-agents conversational large language models
Chen, X., Yi, H., You, M., Liu, W., Wang, L., Li, H., Zhang, X., Guo, Y., Fan, L., Chen, G., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-01550-0 · Cited by 147
“Timely diagnosis of rare diseases has always been challenged by a lack of high-quality medical resources in many regions of the world, and delays in diagnosis lead to delays in treatment and poor prognosis 7,8 .”
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
Jonker, A. H., Tãtaru, E.-A., Graeßner, H., Dimmock, D., Jaffé, A., Baynam, G. S., Davies, J. O. J., Mitkus, S., Iliach, O., Horgan, R., et al. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-01059-3 · Cited by 48
“For example, these inequities are due to the lack of detailed standardized diagnostic criteria, for which availability varies from region to region 91 , or due to the costs of obtaining a diagnosis 92 .”
The impact of rare diseases on the quality of life in paediatric patients: current status
Dumbuya, J. S., Zeng, C., Deng, L., Li, Y., Chen, X., Ahmad, B., & Lü, J. (2025) · Frontiers in Public Health · doi:10.3389/fpubh.2025.1531583 · Cited by 45
Global insight into rare disease and orphan drug definitions: a systematic literature review
Abo-Zaid, G., Kerr, K., Alomary, H., Al‐Omar, H. A., & McKnight, A. J. (2025) · BMJ Open · doi:10.1136/bmjopen-2024-086527 · Cited by 19
Khaskheli, M. A., Nizamani, M. M., Tarafder, E., Das, D., Nosheen, S., Muhae‐Ud‐Din, G., Khaskheli, R. A., Ren, M.-J., Wang, Y., & Yang, S. (2025) · Journal of Fungi · doi:10.3390/jof11030207 · Cited by 18
“The following are some key policy recommendations [319].”
Metadata
- Authors
- Adachi, T., El-Hattab, A. W., Jain, R., Nogales Crespo, K. A., Quirland Lazo, C. I., Scarpa, M., Summar, M., & Wattanasirichaigoon, D.
- Affiliations
- Keio University (JP)
- Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, United Arab Emirates
- Nanyang Technological University (SG)
- Policy Wisdom LLC, Quebradillas 00678-2705, Puerto Rico
- Health Technology Assessment Unit, Cancer Research Department, Arturo López Perez Foundation, Santiago 7500921, Chile
- University of Udine (IT)
- National Institutes of Health (US)
- Mahidol University (TH)
- ORCID
- Venue
- International Journal of Environmental Research and Public Health
- Publisher
- MDPI AG
- Published
- 2023-03-08
- Volume
- 20
- Issue
- 6
- Pages
- 4732
- ISSN
- 1660-4601 (ISSN-L)
- PMC
- PMC10049067
- OpenAlex
- W4323568260
- Cited by
- 168
- References
- 103
- Citations by year
- 2026: 47 · 2025: 70 · 2024: 42 · 2023: 9
- FWCI
- 6.44
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Environmental Research and Public Health (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DR-NTU (Nanyang Technological University) (submittedVersion, cc-by)
- Funders
- Takeda Pharmaceutical Company Limited
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Pharmaceutical Economics and Policy
- Health Sciences › Nursing › Issues, ethics and legal aspects › Biomedical Ethics and Regulation
- Keywords
- rare diseases, access to treatment, health policy, regulatory framework, disease burden, patient journey, disease management, barriers to care, patient advocacy
- MeSH terms
- Health Policy, Humans, Rare Diseases
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