以数智化驱动为导向的中国罕见病多重保障机制建设现状与挑战  

Current Status and Challenges of the Development on Rare Disease Multi-Security Mechanisms Driven by Data Intelligence in China

作　　者：詹思延[1,2,3] 张抒扬[4,5,6] ZHAN Siyan;ZHANG Shuyang(Department of Epidemiology and Biostatistics,School of Public Health,Ministry of Education,Peking University,Beijing 100191,China;Key Laboratory of Epidemiology of Major Diseases(Peking University),Ministry of Education,Peking University,Beijing 100191,China;Institute for Artificial Intelligence,Peking University,Beijing 100871,China;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]北京大学公共卫生学院流行病与卫生统计学系,北京100191 [2]北京大学重大疾病流行病学教育部重点实验室(北京大学),北京100191 [3]北京大学人工智能研究院,北京100871 [4]中国医学科学院北京协和医院心内科,北京100730 [5]中国医学科学院北京协和医院罕见病医学科,北京100730 [6]中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室,北京100730

出　　处：《罕见病研究》2025年第1期1-6,共6页Journal of Rare Diseases

基　　金：国家自然科学基金(72342015);国家重点研发计划(2022YFC2703100)。

摘　　要：当前中国医疗、医药、医保多部门决策的依据、目标和方法各异导致的决策不一致是罕见病保障设计优化的最大阻碍,亟需借助数智化驱动实现数据共享及数智赋能、顶层设计及系统决策、权责共担及奖惩考核,迫切需要将协同治理理论、数字治理理论和全生命周期理论纳入罕见病的患者分级诊疗、医疗救助、用药保障及医保基金管理等全过程,为三医联动、改善公共部门资源配置效率和公平性提供理论参考。The major obstacle to optimizing the design of rare disease coverage is the fragmented decision-making process among medical services,pharmaceuticals,and medical insurance departments.There is an urgent need to realize data sharing and digital empowerment,as well as to adopt top-level design and systematic decision-making.It is also crucial to establish mechanisms,facilitated by digital intelligence,for sharing power and responsibilities,and assessing rewards and punishments.Furthermore,there is an urgent need to incorporate the theories of collaborative governance,digital governance,and the full life cycle into the entire process,which includes patient classification,diagnosis and treatment,medical assistance,medication protection,and health insurance fund management for rare diseases.This integration aims to provide theoretical reference for the effective linkage of medical services,pharmaceuticals,and medical insurance,and to improve the efficiency and equity of resource allocation in the public sector.

关 键 词：数智化 罕见病 多重保障机制 

分 类 号：R-01[医药卫生] TP39[自动化与计算机技术—计算机应用技术]