数智化保障罕见病患者用药的国际现状与中国体系完善展望  

International Status of Using Digital and Intelligent Technology to Ensure Access to Medication of Rare Diseases and Prospects for System Improvement in China

作　　者：赵琪[1] 付祎涵 孙静[2] ZHAO Qi;FU Yihan;SUN Jing(Office of Hospital Affairs,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;School of Health Policy and Management,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院医院事务处,北京100730 [2]中国医学科学院北京协和医学院卫生健康管理政策学院,北京100730

出　　处：《罕见病研究》2025年第1期139-148,共10页Journal of Rare Diseases

摘　　要：本文探讨通过数智化手段保障中国罕见病患者用药,总结典型国家和地区较为成熟、面向全球、数智化支撑的促进罕见病研究、技术及产品开发和诊疗信息共享平台,分析中国罕见病患者用药面临的挑战,系统梳理中国保障罕见病患者用药的一系列政策。回顾中国为保障罕见病患者用药提供的不同数智化解决方案,建议由国家政府部门及其技术支持机构牵头构建以患者为中心、覆盖全国、集医学研究、药物开发、生产供应、患者寻医问药、支付保障及临床使用监测信息为一体的去中心化罕见病登记、研究和药物开发大数据共享平台,通过数智化手段联动多方主体,实现数据集成分析与国际共享,改善中国罕见病患者的用药可及性。This article explored the strategies of promoting access to medicines for rare diseases with digital and intelligent transformation technology in China.It summarized the mature,global-oriented,digital and intelligent transformation supported platforms for promoting rare disease research,technology and product development,as well as diagnosis and treatment information sharing in typical countries and region.This was followed with analyses of the challenges of access to medicines for rare diseases in China.It also systematically reviewed a range of policies implemented in China intended to promote access to medicines for rare diseases,and the digital and intelligent solutions to promote access to medicines for rare diseases at national and regional levels.The authors proposed that the central government agencies and their technical support institutions take a lead to construct a patient-centered dynamic and decentralized national big data sharing platform for rare diseases registry and research,medicines development,production and supply,access to care and medicines,payment and security,utilization surveillance in China.With the support of digital and intelligent technologies,this national platform would be able to link multiple stakeholders to achieve integrated analysis of big data,as well as international sharing and exchange,which will help to effectively and efficiently promote access to medicines for rare diseases in China.

关 键 词：数智化 罕见病 药物可及性 医学信息共享平台 

分 类 号：R95[医药卫生—药学]