改善罕见病延误诊断的国际经验研究及启示

International Experience and Enlightenment on Improving Delayed Diagnosis of Rare Diseases

我国罕见病诊断技术、诊断体系尚不完善,致使罕见病延误诊断给我国罕见病患者增加了极大的心理、生理和经济的负担,严重影响了我国罕见病患者的生活质量。基于该现实情况,分别从法律法规、制度设计、诊断技术开发和国际合作等角度对美国、欧洲各国和日本各自改善罕见病诊断延误的经验进行研究,同时结合我国实际情况提出了推进罕见病数据共享和数据保护以提高数据可用性、优化罕见病诊断工具并完善相关监管政策、加强各方利益相关者的协作等建议,以期改善我国罕见病诊断现状。

Due to the imperfect diagnostic technology and diagnostic system of rare diseases in China,the delayed diagnosis of rare diseases has added a great psychological,physical and economic burden to patients with rare diseases,which has seriously affected their quality of life.Therefore,this paper examines the experiences of the United States,European countries and Japan in reducing delayed diagnosis of rare diseases from the perspectives of laws and regulations,system design,diagnostic technology development and international cooperation respectively.The study also proposes recommendations to promote rare disease data sharing and data protection,improve data availability,optimize rare disease diagnostic tools and improve related regulatory policies,and strengthen the collaboration among various stakeholders in order to improve the current situation of rare disease diagnosis in China.