精准医学理念在临床实践中的运用进展  

Precision medicine concept and clinical practice

作　　者：程伟[1] 李幼生[1] 

机构地区：[1]南京大学医学院附属金陵医院(南京军区南京总医院)解放军普通外科研究所,南京210002

出　　处：《医学研究生学报》2016年第4期440-444,共5页Journal of Medical Postgraduates

基　　金：国家自然科学基金(81270945)

摘　　要：随着基因组学、功能基因组学及计算机技术的飞速发展,精准医学在继循证医学之后应运而生。精准医学不但引领临床医师从分子生物学本质思考疾病并实现准诊断,同时也要求临床工作者运用患者的遗传信息去寻求最佳的治疗靶点从而实现精准治疗。美国和中国自2015年相继启动精准医学计划,精准医学的时代即将来临。该综述将从基因测序、大数据整合、分子病理、精准无创产前诊断、精准肿瘤医学这几方面,就目前精准医学理念在临床实践中的运用加以阐述。As the rapid development of genomics,functional genomics and information technology,precision medicine came into being after evidence-based medicine. Precision medicine not only urges clinical doctors to analyze disease at a molecular level to achieve precision diagnosis,but also requires us to seek the best therapeutic targets according to the patient＇s genetic information to achieve precision treatment. The United States and China have launched their precision medicine initiative in 2015,thus the precision medicine era is coming. This review will focus on gene sequencing,big data integration,molecular pathology,non-invasive prenatal precision diagnosis,and precision cancer medicine to elucidate the application of precision medicine concept in clinical practice.

关 键 词：精准医学 基因测序 大数据 分子病理 临床实践 

分 类 号：R197.3[医药卫生—卫生事业管理]