精准医学的临床部署顶层架构设计及关键信息技术.docVIP

精准医学的临床部署:顶层架构设计及关键信息技术 王宇 王心慰 刘爽 杨之辉 朱卫国 弓孟春 神州数码医疗科技股份有限公司 北京协和医学院 北京大学医学部 北京协和医院普通内科 中国医学科学院罕见病研究中心 X 关注成功！ 加关注后您将方便地在 我的关注中得到本文献的被引频次变化的通知！ 新浪微博 腾讯微博 人人网 开心网 豆瓣网 网易微博 摘????要： 随着世界范围内研究者对多维度信息融合分析投入越来越多的关注, 精准医学成为一种全新的医学模式。精准医学的核心是通过多维度信息分析患者的个体差异以达到精准预防、精准治疗的目的。精准医学的优势在于借助新的生物学技术及信息技术, 将基因组信息整合入临床实践, 提供临床决策支持, 以实现对疾病的发病机制、分型等进行全新的探索和诠释。精准医学的关键技术包括疾病亚型分组技术、临床决策支持系统、电子病历的改版升级、伦理学挑战及知情同意管理、术语控制与本体开发及全表型组关联分析技术等。作者旨在结合全球范围内精准医学取得的进展对中国精准医学临床部署进行规划, 以提高疾病的治愈率, 改善患者的预后及生活质量, 提升国民健康水平。 关键词： 精准医学; 临床决策支持; 基因组学; 全表型组关联分析; 收稿日期：2017-08-08 基金：国家重点研发计划精准医学研究重点专项 (2016YFC0901500) The clinical implementation of precision medicine:top-level design and core informatics technology WANG Yu WANG Xinwei LIU Shuang YANG Zhihui ZHU Weiguo GONG Mengchun Digital China Health Technologies Co.Ltd.; Peking Union Medical College; Peking University Health Science Center; Department of General Internal Medicine, Peking Union Medical College Hospital; Rare Disease Research Center, Chinese Academy of Medical Sciences; Abstract： With the increasing attention of multi-dimensional information associated analysis, precision medicine has become a new medical model in the world. Precision medicine is an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle. The advantage of precision medicine is using the new biological technology and information technology to integrate the genome and phenome, which can provide clinical decision support to study the pathogenesis of disease, classification and other new exploration and interpretation. The core technologies focused by precision medicine include disease subgroup grouping techniques, clinical decision support systems, electronic medical record upgrades, ethical challenges and informed consent management, terminology control and ontology development and phenome-wide association studies. The aim of this paper is to review the pro