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.

中文翻译：

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智利的罕见疾病：全民健康覆盖背景下的挑战和建议。


罕见病 (RD) 是多种疾病的总称，个体患病率较低，但总体可能影响高达 3.5-5.9% 的人口。它们对患者和社会产生社会心理和经济影响，并且对医疗保健系统来说是一个重大问题，特别是对于资源有限的国家而言。在智利，通过涵盖诊断和治疗的不同计划为 20 名已知的 RD 提供经济保护。尽管对许多疾病有益，但大多数 RD 患者没有适当的法律结构来保证财务覆盖，并且处于脆弱的境地。在这篇综述中，我们介绍并分析了智利医疗保健系统和 RD 立法以及 RD 生态系统的其他范围（包括患者倡导团体和研究）的主要挑战。最后，我们提出了一系列政策建议，包括建立患者登记系统、激发社会对健康和财务覆盖的偏好、改善获得临床遗传服务和治疗的机会、促进 RD 研究以及建立拉丁美洲合作网络，所有这些都旨在促进 RD 患者获得公平优质的医疗保健服务。