下一代测序技术的临床应用规范化问题——参考美国医学遗传学与基因组学会行业标准  

The standardization of the next generation sequencing technologies in clinical application:in reference to the ACMG clinical laboratory standards for nextgeneration sequencing

作　　者：姜烈君[1] 陆晓旭[1] 黄华艺[1,2] 

机构地区：[1]广西壮族自治区人民医院检验科,广西南宁530021 [2]罗斯维尔帕克癌症研究所肿瘤外科,美国纽约布法罗14263

出　　处：《分子诊断与治疗杂志》2016年第4期217-221,共5页Journal of Molecular Diagnostics and Therapy

摘　　要：下一代测序(next generation sequencing,NGS)技术已经在临床实验室中得到应用。该技术的发展以及检测规模和应用范围的扩大,使基因检测成本大大降低。NGS技术在临床上的应用在不断地扩大,如疾病靶向基因组套检测、个体外显子组或全基因组分析等。同时,NGS技术也进一步改善了治疗决策和对某疾病高危人群的预测。然而,NGS技术的发展也充满了挑战性,包括测序平台和技术更新带来的选择困惑、测序结果的临床验证的不一致性问题等。为了帮助临床实验室更好地了解NGS技术、解决临床验证和正确选择NGS测序平台和方法,以及持续监控NGS并保证高质量的测序结果及其临床解释,本文结合美国医学遗传学和基因组学会(American College of Medical Genetics and Genomics,ACMG)关于NGS技术在临床上的应用的专业标准和指南进行归纳和讨论,供我国分子诊断工作者制定国内行业标准时参考。Next-generation sequencing（NGS） technologies have been utilized in clinical laboratories.The advancement of technologies and expansion of the test scales and applications led to significant reductions in the cost of NGS test. The NGS technologies are still advancing in clinical laboratories, such as disease targeted gene panel, exome, and the whole genome sequencing. NGS technologies are also enhancing further advances in therapeutic decision making and disease prediction for populations who are at high risk of a potential disease. Nevertheless, the advancement of NGS is full of challenges in clinical applications including the fast update of platform and technologies leading to confusion in platform selection, the difficulties in clinical verification of sequencing data, etc. In order to help clinical laboratories with the validation of NGS methods and platforms, the ongoing monitoring of NGS testing to ensure quality results, and the interpretation and reporting of variants obtained using these technologies, this paper briefly summarized and discussed the standard and guidelines of NGS technologies in clinical applications in reference to the American College of Medical Genetics and Genomics to serve as a reference guidelines in establishing a local standard and guidelines for clinical laboratories in China.

关 键 词：美国医学遗传学和基因组学会 下一代测序 疾病靶向的基因组套测序 外显子组测序 全基因组测序 

分 类 号：R440[医药卫生—诊断学]