"Research, access, and policies on rare diseases in Latin America: a five-year regional scoping review"

Huamán Dianderas F.; Murillo Carrasco A.G.; Soria Chavarri M.L. · Health Policy and Technology (2026) · DOI: 10.1016/j.hlpt.2026.101317

Resumen

Background: Research and healthcare efforts on rare diseases have traditionally focused on high-income countries, leading to a fragmented understanding of the situation in Latin America. These patients face major obstacles, including delayed diagnoses, high treatment costs, and a lack of specialized care. Objective: To analyze the scope of scientific research and the social situation related to rare diseases in Latin America, based on literature published in the last five years. Methods: This scoping review was conducted on May 30, 2025, using the databases PUBMED, Scielo, Dimensions, and LILACS. Search queries were designed to explore scientific research and socio-political context surrounding rare diseases in Latin American countries. Original articles published in English or Spanish within the last five years were included. The protocol was registered in OSF (https://osf.io/k9u5g/). Results: A total of 104 articles were included. Five major themes emerged from the literature: epidemiology and research trends, diagnostic challenges and genomic capacity, access to therapies and health system inequalities, governance and policy responses, and social determinants and patient organizations. The findings revealed increasing scientific production but persistent structural barriers, including fragmented health systems, limited registries, diagnostic delays, unequal access to genetic testing and orphan drugs, and heterogeneous regulatory frameworks. Patient organizations and collaborative networks were identified as important drivers of awareness, research, and policy development. Overall, the evidence suggests that substantial gaps remain in translating scientific advances into equitable access to diagnosis, treatment, and long-term care across Latin America. Conclusions: While scientific production is rising, significant structural challenges remain. The findings emphasize the need for integrated national policies and registries, the expanded use of genomic technologies, and increased regional collaboration. The review concludes that comprehensive frameworks are necessary to ensure equitable and timely access to care for underserved patient populations in Latin America.