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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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“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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Method
Research works printed but not linked: 5
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Enhancing diagnostic capability with multi-agents conversational large language models
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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, 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
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“There are multiple factors to address the need for better diversity and equity in diagnostics, and a detailed discussion of these is out of the scope of this review and has been discussed elsewhere [113].”
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“15”
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From roadmap to a sustainable end-to-end individualized therapy pathway
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“In Europe, delayed diagnosis, disparities in available medical treatment across countries, access to treatment, and reimbursement issues were identified as crucial aspects among them [6].”
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“Children diagnosed with melanoma and other rare diseases, along with their care-givers, often experience significant psychological challenges, including anxiety, depression, and feelings of isolation [18].”
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“Without research specifically addressing the needs of patients with rare diseases like DBAS, there is a risk of overlooking important factors influencing treatment decisions, access to care, and the successful implementation of emerging therapies [7, 92].”
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Skouw‐Rasmussen, N., & Savini, L. (2023) · The Journal of Haemophilia Practice · doi:10.2478/jhp-2023-0011 · Cited by 4
Wehrli, S., Dwyer, A. A., Baumgartner, M. R., Lehmann, C. U., & Landolt, M. A. (2024) · International Journal of Public Health · doi:10.3389/ijph.2024.1607548 · Cited by 4
“Frequent healthcare utilization is a driver of increased healthcare costs that can negatively affect accessible services, especially for individuals with reduced mobility [58, 59].”
BackgroundStudy on the disease burden of patients with mucopolysaccharidosis type II in China
Ni, Y., Li, M., Wang, S., Yu, H., Wang, Y.-Q., Dong, F.-Y., Chen, H.-X., Duan, S., & Luo, J. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03432-2 · Cited by 4
“This indicates that the overall diagnosis and treatment capacity of rare diseases is insufficient, resulting in rare diseases being mainly concentrated in large tertiary-level public hospitals and less involved in primary hospitals, which delays patient treatment to a certain extent [16].”
BackgroundStoesz, A., Joers, B. J., & Gaviglio, A. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03459-5 · Cited by 4
Neurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis
Goel, D., Wilson, A. C., Baynam, G. S., Waters, K. A., Pillow, J. J., & Rao, S. C. (2024) · Early Human Development · doi:10.1016/j.earlhumdev.2024.106185 · Cited by 4
Paradox of possibilities: the rare landscape in the Asia Pacific Region
Jain, R., Wang, C. M., Foster, L., Li, E. Y., Nishimura, Y., & Tsang, K. P. (2024) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2023.42 · Cited by 4
Self-citationLanguage in rare disease: a call for systemic and empathetic action
Baynam, G. S., Boycott, K. M., Johnson, K., & Mckay, L. (2026) · The Lancet · doi:10.1016/s0140-6736(26)00359-4 · Cited by 3
Al-Jedai, A. H., Almudaiheem, H., Aburas, W., Almutairi, E., Eshmawi, M. T., Sulaiman, K. A. A., Tawfik, E. A., Alluhidan, M., Alowairdhi, M. A., Awad, N. S., et al. (2026) · Frontiers in Public Health · doi:10.3389/fpubh.2026.1765428 · Cited by 3
Smartphone-Based Proactive Self-Screening for Ocular Surface Malignancies
Wang, R., Bi, S., Lin, D., Li, M., Zhao, L., Zhou, Y., Jin, L., Chen, W., Li, R., Shang, Y., et al. (2026) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2026.1609 · Cited by 3
Ih, D., Amaral, K., Shi, H., Jamal, A., Kikuta, N. T., Martin, G., Ren, L. Y., Srinivasan, M., Palaniappan, L. P., & Geng, L. N. (2024) · Journal of Asian Health · doi:10.59448/jah.v4i1.59 · Cited by 3
Lei, C., Zuo, Y., Kong, F., Chen, H., Cheng, H., Song, X., Zhang, L., & Zhou, H. (2025) · Journal of Global Health · doi:10.7189/jogh.15.03005 · Cited by 3
“These campaigns could include multilingual informational materials, community outreach programmes, and digital tools such as mobile apps for navigation and appointment scheduling [ 19 ].”
Abo-Zaid, G., Al‐Omar, H. A., Alrabiah, A., Alomary, H., & McKnight, A. J. (2025) · Frontiers in Pharmacology · doi:10.3389/fphar.2025.1595967 · Cited by 3
Lawal, O. P., Orobator, E. T., Dorcas, S. I., Ezeamii, V. C., Foster-Pagaebi, E., & Attahiru, M. (2025) · Journal of Life Science and Public Health · doi:10.69739/jlsph.v1i1.538 · Cited by 3
Access in the rare diseases landscape
Jonker, A. H., Cavaller-Bellaubi, M., Nishimura, Y., & Pearce, D. A. (2024) · The Lancet Global Health · doi:10.1016/s2214-109x(24)00341-3 · Cited by 3
Yahya, D., Stoyanova, M., Hachmeriyan, M., & Levkova, M. (2025) · Egyptian Pediatric Association Gazette · doi:10.1186/s43054-025-00344-z · Cited by 2
“Another key part of the usual process is much-needed advanced multidisciplinary collaboration [5].”
Hernández‐Rodríguez, J., Martínez‐Valle, F., Acebes, X., Alerany, C., Antón, J., Calvo, G., Corral, M., Cruz, J., Mangues, M. A., Mateo, J., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03518-x · Cited by 2
“In fact, it is estimated that a PLWRD in Europe spends between 5 to 30 years to obtain a diagnosis, a quarter of patients need to travel to a different region to be diagnosed, and more than 40% of them are misdiagnosed multiple times [10].”
InfluentialVenture philanthropy in rare disease therapy
Levine, J. (2025) · Rare · doi:10.1016/j.rare.2025.100099 · Cited by 3
Obeagu, E. I. (2025) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000003553 · Cited by 2
“Without reliable data, healthcare systems struggle to develop targeted strategies to tackle leukemia effectively [ 56 , 57 ] .”
Coca, J. R., Gómez, N. P., Díaz, A. P., Caramés-Vila, N., Vilas, E. F., Redondo, S. G., & Sánchez, J. A. R. (2025) · Humanities and Social Sciences Communications · doi:10.1057/s41599-025-05597-y · Cited by 2
“Currently, only a few countries consider a broader set of dimensions that are relevant from a health policy perspective, capturing aspects of vulnerability and socioeconomic impact (Adachi et al., 2023).”
Clinical Status, Treatment, and Disease Burden of Generalised Myasthenia Gravis in the Asia–Pacific
Webb, T., Kasahara‐Kiritani, M., Herr, K. J., Yu, D. Y., Lee, B., Barlow, S. G., Birija, S. L., Conyers, J., Connolly, H., Gibson, G. A., et al. (2025) · Neurology and Therapy · doi:10.1007/s40120-025-00845-4 · Cited by 2
Decoding Genetic Disease Through the Skin: Lessons From the UDN
Sivadas, A., Moore, K., Ezell, K. M., McMinn, A., Furuta, Y., Bunick, C. G., Cassini, T. A., Hamid, R., Phillips, J. A., Undiagnosed Disease Network, et al. (2026) · International Journal of Dermatology · doi:10.1111/ijd.70247 · Cited by 2
Spreafico, A. M. C., Neri, L., Angel, K., Bellettato, C. M., & Scarpa, M. (2026) · Journal of Medical Internet Research · doi:10.2196/73612 · Cited by 2
“They exemplify rare, chronic, and multisystem diseases that require coordinated, longitudinal, multispecialty care [1-4].”
Self-citationAging and rare diseases: from epidemiology to a call to action
Mazzucato, M., Fanton, G., Vianello, A., Minichiello, C., Pozza, L. V. D., Toto, E., Pastori, L., Ceolin, C., RUI, M. D., Coin, A., et al. (2026) · European Geriatric Medicine · doi:10.1007/s41999-025-01351-4 · Cited by 2
Bennett, L., & Officer, T. N. (2026) · Health Expectations · doi:10.1111/hex.70668 · Cited by 2
“Formal recognition may further support recognition of PLWRD and carer rare disorders clinical practice expertise, without the need for patients to feel required to fight for care without discrimination, something that should be a fundamental right [61, 62].”
Meressa, A., Girma, B., Negassa, T., Nigussie, G., Kassahun, M., Abdisa, N., Ashenef, S., Taye, S., Belitibo, D. B., Animaw, Z., et al. (2025) · The BRICS Health Journal · doi:10.47093/3034-4700.2025.2.1.53-68 · Cited by 2
Rarer dementias, limited options, and unaddressed needs
Cummings, J. L. (2023) · International Psychogeriatrics · doi:10.1017/s1041610223000431 · Cited by 2
Perolla, A., Çalliku, E., Cili, A., Caja, T., Pulluqi, P., & Ivanaj, A. (2024) · Cureus · doi:10.7759/cureus.52091 · Cited by 2
Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description
Sáenz, S., Reyes, C., & Romero, V. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e28024 · Cited by 2
“In a different study, it is mentioned that many countries, including countries in Latin America, lack or have limited evidence of the economic impact of rare diseases [24].”
BackgroundFuller, M., Ireland, C. M., Zmora, R., & Jenkins, K. J. (2024) · Children · doi:10.3390/children11081008 · Cited by 1
“Within the rare disease community, larger systems of inequities exist, leading to less funding for research, patient organizations or foundations, policy initiatives, and other programs [24].”
BackgroundThe implications of waiving local clinical trials for drugs in India: a double-edged sword?
Seetharaman, R. (2024) · The Lancet Regional Health - Southeast Asia · doi:10.1016/j.lansea.2024.100501 · Cited by 1
Taruscio, D., Cicerchia, A., Ferrara, V., Scaletti, C., Seia, C., & Morricone, M. V. (2024) · Integrated science · doi:10.1007/978-3-031-64288-3_5 · Cited by 1
Approaches to reduce the uncertainty in the clinical efficacy of orphan drugs
Omelyanovskiy, V. V., Kutsev, S. I., Мухортова, П. А., Геннадиевна, Х. А., Slabikova, A. A., Ignatyeva, N. V., Александровна, К. А., Teptsova, Т. S., & Bogdanova, V. O. (2025) · Kachestvennaya Klinicheskaya Praktika = Good Clinical Practice · doi:10.37489/2588-0519-2024-4-82-96 · Cited by 1
Revolutionizing Healthcare: Innovations in Medical Devices for Diagnosis and Treatment
Habo, A. S., Al-Shwekhi, M. M. L., Hussein, M. M., Jawad, R. A., Shamkhi, A. N., & Ardanel, A. M. (2025) · Bright Sky Publications eBooks · doi:10.62906/bs.book.312
Expediting the integration of China into the global rare disease drug development and approval
Ding, J., Huang, H., Wang, Y., Hou, Y., Zhao, G., Cai, Y., Wang, S., Zhang, X., & Li, N. (2025) · 中国科学通报：英文版 · doi:10.1016/j.scib.2025.04.036 · Cited by 1
Advancing Narcolepsy Advocacy: Bridging Patient Narratives and Systemic Change
Bahammam, A., Jesteadt, L., Dhafar, H. O., & Sharafkhaneh, A. (2025) · Nature and Science of Sleep · doi:10.2147/nss.s537298 · Cited by 1
Bryzik, A., Larysz, D., Larysz, P., Karpierz, J. I., & Paprocka, J. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1622185 · Cited by 1
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“These conditions emphasize the need to establish emergency protocols and specialized support networks [48,49].”
Advances in Cell and Gene Therapy for Rare Disease Treatment
Baek, H. J., Nam, Y., Rim, Y. A., & Ju, J. H. (2025) · International Journal of Stem Cells · doi:10.15283/ijsc25028 · Cited by 4
“Recruiting sufficient patients with rare genetic diseases to participate in clinical trials can be difficult because their number is small, and the diseases may be geographically dispersed (88).”
Standardizing rare disease data in Brazil: a Delphi-based approach for the First National Registry
Bernardi, F. A., Komoto, T. T., Vinci, A. L. T., Seixas, M. D. S., Lorea, C. F., de Oliveira, B. M., Yamada, D. B., Félix, T. M., Alves, D., & Raras Network Group (2025) · Journal of Rare Diseases · doi:10.1007/s44162-025-00123-9 · Cited by 1
Pflock, S., Mücke, H. C., Somasundaram, R., & Diehl-Wiesenecker, E. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-04111-6 · Cited by 1
Model-Based Economic Analyses of Haemophilia from a Societal Perspective: A Scoping Review
El-Sayed, A. A., & Bolous, N. S. (2025) · PharmacoEconomics - Open · doi:10.1007/s41669-025-00618-7 · Cited by 1
“Second, HTA agencies should advocate for developing comparable, reliable, and consistent economic studies to facilitate informed reimbursement decisions and promote equitable access to treatment for people with haemophilia [76, 77].”
Adverse events experienced by people living with chronic rare diseases: A scoping review
Kwaan, L., Aldous, C. M., & Malherbe, H. L. (2025) · Rare · doi:10.1016/j.rare.2025.100116 · Cited by 1
Regenerative Medicine in China: Current Regulatory Challenges and Global Advancements
Wang, M., & Du, L. (2025) · Collaborative bioethics · doi:10.1007/978-3-032-07289-4_10 · Cited by 1
Golestaneh, L., Ames, E. G., Doyle, M. H., Ghossein, C., Grimm, P. C., Hewlett, J. L., Lim, A., Marzinelli, L. S., Schmidt, K. J., Smeryage, B., et al. (2025) · Kidney International Reports · doi:10.1016/j.ekir.2025.103735 · Cited by 1
“59 Recent data from the North American Pediatric Renal Trials and Collaborative Studies Cystinosis Registry reported that 42% of the 72 children and young adults surveyed live farther than 50 miles from their care center, with another 26% living 20 to 50 miles away, highlighting a significant…”
Ewans, L., Pierce, K., Farley, E., Bowden, R., Shalhoub, C., & Palmer, E. E. (2025) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.70267 · Cited by 1
Australia’s top 10 rare disease research priorities: a priority setting partnership
Sivaramakrishnan, H., Reilly, M., Jaffe, A. B., Baynam, G., Helwani, F., McKenzie, A., & Finlay-Jones, A. (2026) · Journal of Rare Diseases · doi:10.1007/s44162-026-00146-w
“Rare disease can also have an impact on families who may experience significant caregiver burden and poor financial stability [1, 12].”
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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