以数智化驱动为导向的罕见病数据共享研究进展

The Progress of Research on Data Sharing of Rare Diseases Driven by Digital Intelligence

  • 摘要: 近年来,数智化技术的快速发展为罕见病数据共享提供了新的路径,为罕见病领域研究的发展注入了新的力量。本研究旨在梳理国内外与数智化数据共享相关的文献,并结合中国罕见病现状,构建适用于中国的数智化罕见病数据共享理论框架。通过检索PubMed、EMbase、Cochrane、中国知网、万方数据知识服务平台、维普中文科技期刊数据库,筛选获得代表性文献214篇。文献阅读发现,数智化技术在罕见病数据共享的不同环节中发挥了重要作用,中国、美国和欧洲已形成各具特色的数智化驱动罕见病数据共享体系。基于此,本文结合“信息共享空间”理论,分析中国罕见病数据共享现状,阐述中国现状与“罕见病数据共享空间”构建目标的差距,提出数智化驱动的解决路径及罕见病数据共享空间“DI-STARS”理论框架。中国应大力发展数智化技术,深化以表型术语为核心的数据标化体系,营造以数智创新为基调的环境,搭建以数智化技术为支撑的桥梁,结合“DI-STARS”理论框架构建一个中国罕见病数据共享空间,以针对性地提高罕见病的识别率,弥合中国罕见病患者的诊疗需求。

     

    Abstract: In recent years, the rapid development of digital intelligence has provided a new path for rare disease data sharing and injected new power into the progress of research of rare diseases. This research is aimed at summarizing and consolidating relevant literatures on data sharing driven by digital intelligence (DI) in China and abroad, and constructing a local theoretical framework of DI-driven data sharing for rare diseases based on the status of rare diseases in China. Searching PubMed, EMbase, Cochrane, CNKI, Wanfang, and VIP database, we obtain a total of 214 representative literatures. Through literature review, we find that DI technologies have played important roles in different aspects of rare disease data sharing. China, the United States, and Europe have formed their own DI-driven data sharing systems for rare disease. From the theory of " Information Commons", we analyze the gap between China′s current situation and the goal of a " Rare Disease Data Commons". Based on the analysis, we put forward the idea of framework of " DI-STARS". China should develop the Data Sharing system making DI as the core of the system. Meanwhile, China should strengthen the data standardization system, create an innovation-encouraging environment, and build a bridge between different platforms. Using the DI-STARS theory, China will be able to build the " Rare Disease Data Commons" so that the diagnosis and treatment of rare diseases will be enhanced in China to meet the patients′ needs.

     

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