美国二代测序技术临床应用的共识声明、实践资源、技术标准和指南的概述  

A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States

作　　者：赵辰 谢小雷 冀维真[1] 祁鸣 周青[4] 李孟蓉 李培宁[1] 姜永辉[1] 张慧 Zhao Chen;Xie Xiaolei;Ji Weizhen;Qi Ming;Zhou Qing;Li Mengrong;Li Peining;Jiang Yonghui;Zhang Hui(Department of Genetics,Yale University School of Medicine,New Haven CT 06511,USA;Prenatal Diagnosis Center,Qingyuan People’s Hospital,the Sixth Affiliated Hospital of Guangzhou Medical University,Qingyuan,Guangdong 511500,China;Department of Human Genetics,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310058,China;Institute of Life Sciences,Zhejiang University,Hangzhou,Zhejiang 310058,China;Department of Pathology,Children’s Hospital of Philadelphia,University of Pennsylvania School of Medicine,Philadelphia PA 10104,USA)

机构地区：[1]耶鲁大学医学院遗传系,美国纽黑文CT 06511 [2]广州医科大学附属第六医院-清远市人民医院产前诊断中心,清远511500 [3]浙江大学医学院人类遗传学系,杭州310058 [4]浙江大学生命科学研究院,杭州310058 [5]宾夕法尼亚大学医学院费城儿童医院病理系,美国费城PA 10104

出　　处：《中华医学遗传学杂志》2021年第6期513-520,共8页Chinese Journal of Medical Genetics

摘　　要：二代测序(next generation sequencing,NGS)的临床应用主要包括检测基因变异的全外显子组测序(whole exome sequencing,WES)和胎儿染色体非整倍体的无创产前筛查(non-invasive prenatal screening,NIPS)。本文回顾和概述了美国医学遗传与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指导和规范NGS和NIPS临床应用的相关文件的发表和更新过程,这包括提出并更新专家共识性质的政策和立场声明,用于指导NGS技术的应用和变异解析,建立具有循证基础的实践资源以及标准指南来规范诊断和筛查,及时更新相应的文件和标准指南等。ACMG的这些文献对中国同行具有重要的参考价值,但由于中美在人群致病基因变异频率、社会经济状况和医疗实践方面的差异,直接采用这些文件和标准指南可能不切实际。希望本文有助于基于中国人群体的遗传病数据,结合国内对NGS技术的应用,探索建立符合中国国情和国际规范的NGS和NIPS的指导文件和标准指南,为遗传病患者及亲属提供优质、高效而安全的临床服务。The use of whole exome sequencing(WES)for the detection of disease-causing variants of genetic diseases and for non-invasive prenatal screening(NIPS)of fetal aneuploidies are two major clinical applications of next generation sequencing(NGS).This article has summarized the official documents developed and updated by the American College of Medical Genetics and Genomics(ACMG)on governing WES and NIPS.These include the development of expert consensus policies and position statements on an ongoing basis to guide clinical application of NGS technology and variant analysis,establish evidence-based practical resources,as well as standards and guidelines to govern diagnosis and screening.These ACMG documents are valuable references to Chinese geneticists,but direct adoption of these standards and guidelines may not be practical due to the differences in disease-associated variant frequencies in Chinese population,socioeconomic status,and medical practice between the two countries.It is hoped that this review could facilitate the development of NGS and NIPS standards and guidelines that are consistent with international standards and concordant with medical genetics practice in China to provide high-quality,efficient and safe clinical services for patients and their families with genetic diseases.

关 键 词：二代测序 全外显子组测序 无创产前筛查 政策和立场声明 实践资源 技术标准和指南 

分 类 号：R440[医药卫生—诊断学]