OBJECTIVES: Rare diseases patients in healthcare systems are subject to special considerations to be defined in public policy. This study aims to review existing studies that analyze public policy on rare diseases in Peru and Colombia.

METHODS: A systematic literature review was developed using five electronic databases to search for articles published in either English or Spanish, without publication date limit and using MeSH terms. Studies with information regarding rare diseases policies in Peru and Colombia in the title and abstract were included. Duplicated and non-free access studies were excluded. An additional snowball exercise was performed with the selected references from the literature review. A full-text screening was executed on all identified and selected studies.

RESULTS: A total of 709 studies were identified (Scopus=295, PubMed=26, Cochrane=250, BVSalud=138, Scielo=0). Out of 6 studies retrieved for the final screening, 3 were included in the final analysis. From the snowball exercise, 3 additional studies were incorporated.

Three studies were focused on national plans and implemented strategies, one of these highlighted the relevance of including the patients’ perspective. Another study reported the experience of the first National Registry for rare diseases in Colombia. The fifth study reviewed funding, regulatory and ethical concerns for genetic disease clinical trials in Latam. The last study covered the terms and operational definitions in different regions (EU, US, and Latam) and remarked on the importance of these as starting point in national decision-making processes.

CONCLUSIONS: Although Peru and Colombia have made significant progress in rare diseases public policy since early 2000`s, it is essential these experiences and documents are analyzed on research studies and become available on public data sources. Overall, improving outcomes for patients and their quality of life, requires involvement of different actors (family, physicians, support system, government), to obtain the integral perspective needed before public policy decision-making processes.