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精准医学的临床实践
引用本文:孙晓宁,弓孟春,张抒扬.精准医学的临床实践[J].科技导报(北京),2017,35(16):13-19.
作者姓名:孙晓宁  弓孟春  张抒扬
作者单位:中国医学科学院北京协和医院, 北京 100730
基金项目: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
摘    要: 随着精准医学理念不断成熟与完善,其为诸如肿瘤相关的临床试验研究产业了相对丰硕的成果,但精准医学在临床中的实践仍处于起步阶段。精准医学的知识体系还有待进一步完善,其中涉及对多重组学数据的整合,以及更为高效的临床试验设计理念的应用。电子健康档案以及标准化医学术语的推广,是临床决策支持系统等计算机辅助算法在临床实践中整合精准化医疗决策的必要条件。此外,还应确立和落实精准医学相关政策法规,保障个体的知情权、隐私权,有针对性地进行基因筛查,最大限度地提高检验效率,降低结果的假阳性率。针对患者和医务工作人员的教育,也有助于基因组相关的检查手段在临床中合理应用。

关 键 词:精准医学  临床部署  生物信息学  伦理学  
收稿时间:2017-06-20

Clinical practice of precision medicine
SUN Xiaoning,GONG Mengchun,ZHANG Shuyang.Clinical practice of precision medicine[J].Science & Technology Review,2017,35(16):13-19.
Authors:SUN Xiaoning  GONG Mengchun  ZHANG Shuyang
Affiliation:Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
Abstract:Clinical trials on various types of cancers come up with abundant fruits, as benefited from the blooming of the precision medicine, the idea of which has been developed significantly in recent years. The clinical practice of the precision medicine, however, is still in its infancy. Rapid growing demands for informative and reliable data-/knowledge-bases of biological and medical science call for an integrated data analysis of multiple "-omics" data and a novel clinical trial design tailored for the precision medical research. The introduction of the Electric Health Record (HER) and the standardized ontology system is essential for the optimal operation of the clinical decision support systems (CDSS). It is urgent to have a proper policy on the informed consent, the privacy and the confidentiality, and a targeted genomic screening. Guidelines ensuring the maximized efficacy and the minimal false positive rate is yet to be sought for. Professional education is of great help for the proper application of the genomic testing in the clinical practice.
Keywords:precision medicine  clinical implementation  bioinformatics  ethics  
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