促进基因检测技术在中国罕见病诊疗研究中的应用——医学基因组委员会的成立及工作展望  

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

作　　者：中国罕见病联盟 北京罕见病诊疗与保障学会 医学基因组委员会 张抒扬[2,3] China Alliance for Rare Diseases;Beijing Society of Rare Disease Clinical Care and Accessibility;Medical Genome Committee;ZHANG Shuyang(不详;Department of Cardiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]不详 [2]中国医学科学院北京协和医院心内科,北京100730 [3]中国医学科学院北京协和医院疑难重症及罕见病全国重点实验室,北京100730

出　　处：《罕见病研究》2024年第3期275-279,共5页Journal of Rare Diseases

摘　　要：随着医学基因组学的发展,全基因组测序(WGS)在罕见病诊断与治疗中显示出越来越重要的作用。为有效促进WGS在罕见病临床诊治中的应用,进一步规范基因检测技术,加强临床医师培训,提高公众认知,并积极推动相关政策支持,由中国罕见病联盟/北京罕见病诊疗与保障学会牵头,成立医学基因组委员会。本文着重介绍了医学基因组委员会成立的概况和开展的重点工作,并对未来工作规划和发展前景进行展望。With the development of medical genomics,whole genome sequencing(WGS)has been playing an increasingly important role in the diagnosis and treatment of rare diseases.To effectively promote the application of WGS in clinical diagnosis and treatment of rare diseases,further standardize gene testing technology,improve the training of clinicians,raise public awareness,and actively promote relevant policy support,a Medical genome Committee led by the China Alliance for Rare Diseases/Beijing Society of Rare Disease Clinical Care and Accessibility was established.This paper aims to introduce the Medical Genome Committee and its main focus,and forecasts the future plans and prospects.

关 键 词：罕见病 基因组学 全基因组测序 医学基因组委员会 

分 类 号：R-05[医药卫生]