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

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.

Ophthalmic genetics in South America

“…There are numerous challenges that Chile faces such as: increasing the knowledge of genetics among ophthalmologists and other health professionals, promoting international partnerships for research and clinical collaboration, increasing training opportunities abroad, participation in multicenter projects and, of course, strengthen public health policies towards better genomic medicine (Encina et al, 2019). For several patients this support is the only way to complete their path to a correct diagnosis and management.…”

“…The private system, called ISAPRES, is represented by insurers and funded both by mandatory and voluntary contributions, covering approximately 15% of the population (Cid, Herrera, & Prieto, 2016; Vásquez, Paraje, & Estay, 2013). Neither the National healthcare system nor insurances cover genetic testing and no legal or financial aid are provided for patients with IRD (Encina et al, 2019; Pinilla‐Roncancio, 2018).…”

“…National healthcare system nor insurances cover genetic testing and no legal or financial aid are provided for patients with IRD(Encina et al, 2019;Pinilla-Roncancio, 2018).Throughout the country, over 15 clinical cytogenetic laboratories offer karyotype and FISH, and three laboratories provide molecular genetic tests such as multiplex ligation-dependent probe amplification (MLPA), microarrays, Sanger sequencing, and comparative genomic hybridization (CGH). NGS is available overseas only, at a high cost (Vásquez et al, 2013).…”

<p>Ethical Questions Linked to Rare Diseases and Orphan Drugs – A Systematic Review</p>

“…At the same time, Schmiedeke et al (2019) 33 warn that centralisation should be conducted carefully and point out several potential pitfalls to avoid in this process, for instance, more difficult access to healthcare, or the question of place and responsibility for the follow-up treatment. 33 7,10,18,24,26,[30][31][32]34,35 How much a society should spend on orphan diseases?…”

“…The need for cooperation is viewed as inevitable in Latin America, too. For instance, Encina et al (2019) 34 offer recommendations that include, among other things, compiling a patient registry or setting up a Latin American cooperation network. Developing countries get some support, too.…”