罕见病研究2024,Vol.3Issue(3) :275-279.DOI:10.12376/j.issn.2097-0501.2024.03.001

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

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
罕见病研究2024,Vol.3Issue(3) :275-279.DOI:10.12376/j.issn.2097-0501.2024.03.001

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

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1
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作者信息

  • 1. 中国医学科学院北京协和医院心内科,北京 100730;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
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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.

Abstract

With the development of medical genomics,whole genome sequencing(WGS)has been pla-ying an increasingly important role in the diagnosis and treatment of rare diseases.To effectively promote the ap-plication of WGS in clinical diagnosis and treatment of rare diseases,further standardize gene testing technolo-gy,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

Key words

rare diseases/genomics/whole genome sequencing/Medical Genome Committee

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出版年

2024
罕见病研究

罕见病研究

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