目前,我国的罕见病防治措施主要分散于各类行政规范性文件中,缺乏系统性和协同性。域外立法例表明,罕见病立法应当包含罕见病与孤儿药认定、药品供应、费用筹集、医药服务四项结构性制度,并在此基础上完善罕见病药品研发和供应的激励机制,构建多层次罕见病医疗保障体系,通过罕见病诊疗协作进一步细化提高医药服务水平。借鉴域外立法经验与教训,结合我国现实国情,未来应当基于“适度保障”和“倾斜保障”两项基本原则构建罕见病防治法律制度,在认定方面应当向发病率高的罕见病倾斜,药品供应方面应当向有研发能力和意愿的药企倾斜,费用筹集和保障水平方面应当坚持适度原则,医药服务方面应当向医疗资源贫乏的地区和人群倾斜。
Abstract
Currently, China's measures for the prevention and treatment of rare diseases are scattered across various administrative normative documents, lacking systematic and coordinated mechanism. Legislation in other jurisdictions indicates that rare disease legislation should encompass four structural systems, i.e. rare disease and orphan drug identification, drug supply, cost fundraising, and medical services. Based on this foundation, it is crucial to improve the incentive mechanism for the supply of rare disease drugs, establish a multi-level medical security system for rare diseases, and enhance the level of medical services through collaborative diagnosis and treatment of rare diseases. Drawing from the experience of legislation abroad and considering China's actual conditions, future efforts should be made towards constructing a legal framework for the prevention and treatment of rare diseases, guided by the principles of moderate guarantee and targeted protection. In terms of disease identification, priority should be given to rare diseases with high prevalence. As for drug supply, preference should be given to pharmaceutical companies with research and development capabilities and willingness. Regarding cost fundraising and assurance levels, the principle of moderation should be upheld. Medical services should be targeted towards regions and populations lacking in medical resources.
关键词
罕见病立法 /
罕见病认定 /
药品供应 /
费用筹集 /
医药服务
Key words
rare disease legislation /
rare disease identification /
drug supply /
cost fundraising /
medical services
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基金
首都医科大学国家医疗保障研究院2023年度开放性课题重点项目“医疗保障立法重点、难点问题研究”（YB2023A06）
