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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“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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“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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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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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