OBJECTIVES: The complexity of rare diseases (RD) and healthcare systems represents a challenge for implementing a healthcare model for each disorder as well as a standardized process applicable at global level. This study aims to review evidence about RD healthcare models and identify strategies that should be considered in the development of a comprehensive value-based healthcare model in Colombia.

METHODS: Systematic literature review of manuscripts in English or Spanish, published from 2018 to 2023 in five electronic databases (Cochrane, Pubmed, Scielo, LILACS and MEDLINE). The research included the keywords: Healthcare model, model of care, care pathway, rare diseases, and orphan diseases. Duplicated studies were excluded and publications with relevant information in the title or abstract were screened. An additional snowball exercise was undertaken. All selected studies were subjected to full-text screening.

RESULTS: A total of 1,865 studies were identified, 1,045 were excluded. Twenty studies were retrieved for final screening, with eleven making the final selection. Five additional articles from the snowball process were added. Eleven studies included models developed in Europe, one in Australia and one in India. Three studies reported strategies that could be applied worldwide, with two of these highlighting the importance of caregivers and patient journeys, and one reporting the global goals established for the management of RD. No models were identified in Latin America. All studies agreed on the need of a coordinated, multidisciplinary model that integrates different components and processes for the benefit of patients and their families.

CONCLUSIONS: There is a lack of evidence regarding RD healthcare models in Latin America. The development of a RD healthcare model for Colombia should include a coordinated, multidisciplinary care based on a patient-centered approach, involving the role of caregivers, and technological tools such as telemedicine, to facilitate patient access to early diagnosis, correct treatment, and adherence and persistence.