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.

El artículo muestra como las intuiciones originales que surgen en la fundación de la bioética por Fritz Jahr y Van Resselaer Potter, olvidadas en las primeras etapas de la evolución de la disciplina, vuelven a recuperarse por dos vías que conducen a una necesaria bioética para la era de la globalización. Por un lado, la bioética de Jahr y Potter es posible vincularla con la tradición de las éticas medioambientales y de las éticas de la responsabilidad. Por otro lado, la tradición bioética dominante en las últimas décadas comienza a superarse debido a los crecientes efectos sociales, económicos y medioambientales de la globalización. La recuperación de la concepción fundacional de la bioética de Jahr y Potter es tan sólo un punto de partida para la construcción de una bioética global. A partir de este reconocimiento, el autor propone un marco de principios para una bioética global.

No abstract

of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.