中国罕见病研究现状及对策建议

Status and Suggestions for Rare Diseases in China

罕见病是指发病率极低的一组疾病的统称,已成为全球非常严重的公共卫生问题。不同国家和地区依据流行病学标准、疾病严重程度、罕用药经济学标准来界定罕见病。中国目前无罕见病的官方定义,缺乏明确的界定标准,成为我国罕见病研究及罕用药可及性的限制因素。本研究探讨不同国家和地区有关罕见病的定义,结合中国罕见病研究现状,从流行病学、诊疗水平、医保体系、药物可及性等方面提出应对措施,以期为中国罕见病的界定提供指导和参考。

Rare diseases,a group of diseases with a very low incidence,have now become a serious public health problem.Different countries and regions define rare diseases based on epidemiological standards,disease severity,and economic standards of rare drugs.There is currently no official definition of rare diseases in China,and the lack of clear definition standards has become a limiting factor in the research of rare diseases and the availability of rare drugs in my country.This study explores the definitions of rare diseases in different countries and regions,combined with the current status of rare disease research in China,and proposes countermeasures in terms of epidemiology,diagnosis and treatment level,medical insurance system,and drug accessibility,in order to provide guidance for the definition of rare diseases in China and reference.