健康医疗大数据与罕见病的精准用药

发布时间：2018-06-18 16:09

本文选题：健康医疗大数据 + 罕见病　；参考：《科技导报》2017年16期

【摘要】：药物治疗是罕见病的主要治疗方式,然而目前仅有1%的罕见病能够得到有效的药物治疗。不同来源的基因组、转录组等组学数据与临床表型数据融合起来形成的"健康医疗大数据",可以通过集中小规模罕见病临床数据的方式有效弥补罕见病样本量少的不足。大数据信息可用于研究罕见病新的药物靶点、探索成熟药物在罕见病领域新用法、分析药物不良反应实现个体化用药,并可进一步通过大数据技术建立本地化罕见病知识库,从而实现罕见病的精准诊断和治疗。随着大数据研究的不断深入,仍然需要突破多组学融合及分析技术、基于真实世界的知识提取技术、基于组学的临床决策支持等技术壁垒才能使大数据在罕见病的诊疗中得到最大应用。
[Abstract]:Drug therapy is the main treatment for rare diseases. However, only 1% of rare diseases can be effectively treated with drugs. The combination of genomes, transcriptome and clinical phenotypic data to form a "health care big data" can effectively compensate for the shortage of rare diseases by concentrating the clinical data of small scale rare diseases. Big data information can be used to study new drug targets of rare diseases, explore new uses of mature drugs in the field of rare diseases, analyze adverse drug reactions to realize individualized drug use, and further establish a knowledge base of localized rare diseases through big data technology. In order to achieve accurate diagnosis and treatment of rare diseases. With the deepening of big data research, it is still necessary to break through the technology of multi-group learning fusion and analysis, and the technology of knowledge extraction based on the real world. Technical barriers, such as clinical decision support based on cluster, can maximize the application of big data in the diagnosis and treatment of rare diseases.
【作者单位】：神州数码医疗科技股份有限公司;中国医学科学院北京协和医院中心实验室;
【基金】：国家高技术研究发展计划(863计划)项目(2015AA020106) 国家重点研发计划项目(2016YFC0901500) 上海市出生缺陷防治重点实验室开放课题(16DZKF1007) 国家卫生计生委2016年信息化与统计项目
【分类号】：R597

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