遗传变异分类标准与指南

发布时间：2018-05-06 10:04

本文选题：ACMG实验室指南 + 临床遗传检测　；参考：《中国科学:生命科学》2017年06期

【摘要】：美国医学遗传学与基因组学学会(The American College of Medical Genetics and Genomics,ACMG)曾制定过序列变异解读指南.在过去的十年中,随着新一代高通量测序的出现,测序技术有了快速发展.利用新一代测序技术,临床实验室检测遗传性疾病的产品种类不断增加,包括基因分型、单基因、基因包、外显子组、基因组、转录组和表观遗传学检测.随着技术的复杂性日益增加,基因检测在序列解读方面不断面临着新的挑战.因此ACMG在2013年成立了一个工作组来重新审视和修订序列变异解读的标准和指南,工作组包括ACMG、分子病理协会(the Association for Molecular Pathology,AMP)和美国病理学家协会(the College of American Pathologists,CAP)的代表.该工作组由临床实验室主任和临床医生组成.本报告代表了工作组中来自ACMG,AMP和CAP的专家意见.本报告提出的建议可应用于临床实验室的各种基因检测方法,包括基因分型、单基因、基因包、外显子组和基因组.本报告建议使用特定标准术语来描述孟德尔疾病相关的基因变异"——致病的"、"可能致病的"、"意义不明确的"、"可能良性的"和"良性的".此外,本报告描述了基于典型的数据类型(如人群数据,计算数据,功能数据,共分离数据)对变异进行五级分类的标准过程.由于临床基因检测分析和解读中不断增加的复杂性,ACMG强烈建议临床分子基因检测应在符合临床实验室改进修正案(CLIA)认证的实验室中进行,其检测结果应由通过职业认证的临床分子遗传学家或分子遗传病理学家或相同职能的专业人员解读.
[Abstract]:The American College of Medical Genetics and Genome GG has developed guidelines for the interpretation of sequence variation in the American Society of Medical Genetics and Genomics. In the past decade, with the emergence of a new generation of high-throughput sequencing, sequencing technology has developed rapidly. A new generation of sequencing techniques has been used to detect hereditary diseases in clinical laboratories, including genotyping, single gene, gene package, exon group, genome, transcriptome and epigenetics. With the increasing complexity of technology, gene detection is facing new challenges in sequence interpretation. So in 2013, ACMG set up a working group to review and revise the standards and guidelines for interpreting sequence variations, including representatives of the Association for Molecular Pathology AMP and the College of American Pathology CAP. The working group is composed of clinical laboratory directors and clinicians. This report represents the expert opinions of the working Group from ACM GG / AMP and CAP. The recommendations in this report can be applied to a variety of clinical laboratory genetic detection methods, including genotyping, single gene, gene package, exon group and genome. The report recommends the use of specific standard terms to describe Mendelian disease-related genetic variants "- pathogenic," "potentially pathogenic," "ambiguous," "potentially benign," and "benign." In addition, this report describes the standard process of five-level classification of variations based on typical data types (such as population data, computational data, functional data, co-separation data). In view of the increasing complexity of clinical gene analysis and interpretation, ACMG strongly recommends that clinical molecular gene testing should be conducted in a laboratory that complies with the clinical laboratory improvement amendment (CLIAA) certification. The results should be interpreted by professionally certified clinical molecular geneticists or molecular genetic disease scientists or professionals with the same functions.
【作者单位】：解放军总医院;Boston
【分类号】：R394

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