Rare diseases in Chile: challenges and recommendations in universal health coverage context

Gonzalo Encina,Andrés D Klein,Juan A Lecaros,Gabriela M Repetto,Carla Castillo-Laborde,Karen Dubois-Camacho,Ximena Aguilera,Juan F Calderón

doi:10.1186/s13023-019-1261-8

Gonzalo Encina, Andrés D Klein + Show 6 more

Open Access

https://doi.org/10.1186/s13023-019-1261-8

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Abstract

Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients and societies, and are a significant problem for healthcare systems, especially for countries with limited resources. In Chile, financial protection exists for 20 known RDs through different programs that cover diagnosis and treatments. Although beneficial for a number of conditions, most RD patients are left without a proper legal structure that guarantees a financial coverage, and in a vulnerable situation. In this review, we present and analyze the main challenges of the Chilean healthcare system and legislation on RDs, and other ambits of the RD ecosystem, including patient advocacy groups and research. Finally, we propose a set of policy recommendations that includes creating a patient registry, eliciting social preferences on health and financial coverage, improving access to clinical genetic services and therapies, promoting research on RDs and establishing a Latin-American cooperation network, all aimed at promoting equitable quality healthcare access for people living with RDs.

Highlights

A rare disease (RD) is a medical condition with low prevalence, affecting less than 1/2000 individuals according to the European Union (EU) [1]
The lack of resources for clinical services and financial coverage, and the current legislation related to RDs in Chile pose regulatory challenges that could be addressed in a special law for the care of patients with RDs
The newly established Ministry of Science, Technology, Knowledge, and Innovation [46] is expected to promote the growth and development of sciences and funding; we propose the establishment of specific programs for RDs

Summary

Introduction

A rare disease (RD) is a medical condition with low prevalence, affecting less than 1/2000 individuals according to the European Union (EU) [1]. This system assures timely access to quality healthcare services and financial protection for a prioritized set of 80 programs, diseases or health conditions based on prevalence, severity, cost, and impact on quality of life [16].

Results

Conclusion