Patients with rare diseases across the world struggle to access timely diagnosis and state-of-the-art treatment and management of their conditions. Several recently published reviews highlight the importance of country efforts to address rare diseases and orphan drugs policy comprehensively. However, many of these reviews lack depth and detail at the local level, which we believe is necessary for rare disease advocates to identify and prioritize opportunities for strengthening each country's policy framework.We asked leading patient advocates from civil society organizations their views on rare disease public policy in Argentina, Brazil, Chile, Colombia, Mexico, and Peru with a focus on whether specific laws and regulations in these six Latin American countries have been promulgated. From December 2018 to March 2019 we supplemented their perspectives with evidence from accessible literature using key search terms. For each country, we prepared a detailed analysis on how laws or other policy initiatives took shape and the steps taken since to implement them. This allowed us to identify five broad policy categories for subsequent analysis: national laws, national regulations, health system incorporation of rare disease treatments, care delivery, and patient engagement.By describing the different approaches, challenges and timelines across six countries, our research demonstrates that strengthening rare disease policy first requires a common understanding and local consensus of each country's recent past and current situation. Subsequent analysis based on a set of common policy dimensions led us to where we believe salient opportunities lie for each of these countries to strengthen their overall policy framework for rare disease patients.

中文翻译：

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六个拉丁美洲国家的民间社会对罕见病公共政策的看法。

世界各地的罕见疾病患者都在努力寻求及时的诊断以及对病情的最新治疗和管理。最近发表的一些评论强调了国家努力全面解决罕见病和孤儿药物政策的重要性。但是，许多这样的评论在地方层面上都缺乏深度和细节，我们认为这对于稀有疾病倡导者确定并优先考虑加强每个国家政策框架的机会是必要的。我们询问了民间社会组织的主要耐心倡导者对罕见病的看法阿根廷，巴西，智利，哥伦比亚，墨西哥和秘鲁的公共政策，重点关注是否已在这六个拉丁美洲国家颁布了具体的法律法规。从2018年12月到2019年3月，我们使用关键搜索词提供了可访问文献的证据来补充他们的观点。对于每个国家，我们都对法律或其他政策举措的形成方式以及自实施以来采取的步骤进行了详细的分析。这使我们能够确定五种主要的政策类别以进行后续分析：国家法律，国家法规，纳入罕见病治疗的卫生系统，护理提供和患者参与度。通过描述六个国家的不同方法，挑战和时间表，我们的研究表明加强罕见病政策首先需要对每个国家的过去和当前状况达成共识和地方共识。