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

Journal
Orphanet Journal of Rare Diseases
ISSN
1750-1172
Date Issued
2019
Author(s)
Gonzalo Encina
Karen Dubois-Camacho
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85077785807
WoS ID
WOS:000509804800003
DOI
URL
URL Institutional Repository
Abstract
<jats:title>Abstract</jats:title><jats:p>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.</jats:p>
Cite this document
Encina, G., Castillo-Laborde, C., Lecaros, J. A., Dubois-Camacho, K., Calderón, J. F., Aguilera, X., Klein, A. D., & Repetto, G. M. (2019). Rare diseases in Chile: Challenges and recommendations in universal health coverage context. Orphanet Journal of Rare Diseases, 14(1), 289. https://doi.org/10.1186/s13023-019-1261-8
Project(s)
Subjects
chile

; 

health policy

; 

rare diseases

; 

universal health coverage

; 

chile

; 

ecosystem

; 

health policy

; 

humans

; 

rare diseases

; 

article

; 

chile

; 

disease registry

; 

genetic service

; 

government regulation

; 

health care access

; 

health care cost

; 

health care policy

; 

health care system

; 

health insurance

; 

human

; 

law

; 

medical research

; 

patient advocacy

; 

patient preference

; 

rare disease

; 

socioeconomics

; 

universal health care

; 

ecosystem