中国专家关注的罕见病和罕用药问题及政策建议的文献系统评价

Problems and strategies of rare diseases and orphan drugs in China based on a systematic literature review

目的:汇总中国专家提出的罕见病和罕用药问题及其政策建议,为我国未来的罕见病和罕用药政策制定提供参考依据。方法:通过对近32年(1984~2016年)国内发表的文献进行检索,较全面地获取具有代表性的中国罕见病和罕用药问题研究资料,参考国际循证卫生服务中心制定的评价标准,对所纳入文献进行质量评价和研究内容进行系统的分析。结果:最终纳入359篇文献(24.95%),其中,271篇(75.49%)涉及我国专家关注的罕见病和罕用药问题,如罕见病缺乏明确定义,罕见病的诊断水平低,法律保障机制缺失,医药产业缺乏利润动机,罕用药的可负担性和供应及时性差等;251篇(69.91%)提出了对应的政策建议,包括明确罕见病和罕用药界定标准,提高医生的诊断水平,建立覆盖药品生命周期的激励制度,将可治疗的罕见病纳入大病医保范围,建立多元筹资机制和全国罕见病数据库。结论:罕用药蕴含着巨大市场潜力和社会价值,应促进建立罕见病与罕用药从研发到使用的激励与保障机制。

OBJECTIVE To summarize the problems and recommendations of rare diseases and orphan drugs proposed by China＇s experts,and to provide references for the future development of policies for rare diseases and orphan drugs in China.METHODS Domestic literatures about rare diseases and orphan drugs from1984 to 2016 were searched to collect comprehensive and representative materials in China.The JBI model was used to assess the quality and the contents of the literatures.RESULTS Totally 359 related literatures（24.95% of total literatures）were screened out.Of 359 literatures,271 focused on the problems of rare diseases and orphan drugs in China,including,the lack of clear definitions of rare diseases and orphan drugs,the low level of diagnosis of rare diseases,the lack of legal protection mechanism,the lack of profit motives for pharmaceutical companies,economic non-affordability and untimely supply of orphan drugs;251 literatures put forward major policy recommendations,including clarifying the criteria for the definition of rare diseases and rare drugs,improving the diagnosis level of rare diseases,establishing an incentive system of the lifecycle of orphan drugs,covering rare diseases into medical insurance system,establishing multidimensional financing mechanisms and national rare disease databases.CONCLUSION Orphan drugs have huge market potentials and social values.China＇s government should promote the establishment of a series of incentives and security mechanisms for the research and development of rare diseases and orphan drugs.