Integration of orphan/rare (ORD) diseases in local/territorial health plans in Colombia: A scoping review

Abstract

Introduction

Orphans/Rare diseases (ORD) in Colombia have a prevalence of 1 per 5000 persons. Globally, public policies have shown inefficacy. International efforts to raise awareness for these patients have progressed, but challenges persist in integrating them into local and territorial health plans in Colombia. Overcoming barriers in healthcare delivery and assessing the need for structural reforms are crucial.

Objective

To synthesize available evidence on the integration of ORD into local/territorial health plans in Colombia, providing a comprehensive view of the Colombian healthcare system in the global context.

Methods

An exploratory systematic review, known as a “Scoping Review,” was conducted in PubMed, Embase, Scopus, and grey literature from 2009 to 2024; 49 documents were selected for analysis.

Results

Of the evidence found, 20.5% (n = 10) were primary studies, highlighting global public policies, and 79.5% (n = 39) comprised grey literature; (n = 8) discussed access barriers, health models, (n = 31) addressed public policies with Colombian intervention pillars, and only (n = 6) included local and territorial health plans in Colombia.

Conclusions

The information gathered shows that ORD pose significant challenges to healthcare systems due to their low prevalence and the lack of specific research and treatment. Despite regulatory efforts in Colombia, a comprehensive and coordinated approach is needed to effectively address these conditions.