《2020年罕见病变异分类ACGS最佳实践指南》中文解读

A Chinese interpretation for the"ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020"

《2020年罕见病变异分类ACGS最佳实践指南》是临床基因组科学协会(ACGS)下属的英国医学遗传学会在美国医学遗传学和基因组学学会(ACMG)和分子病理学协会(AMP)2015年发布的序列变异解读的标准和指南的基础上,整合了截至2020年美国ClinGen序列变异解读(SVI)工作组开发的标准细则,制定的补充性实践指南。ACMG/AMP指南的进一步发展目前由美国ClinGen SVI工作组负责,这些指南侧重于对高外显率、蛋白编码变异的分类。对需要不同证据阈值的疾病,ClinGen已建立了许多特定疾病变异专家小组,并正在制定疾病/基因特异性指南。英国医学遗传学会对序列变异分类指南及其延伸的细则进行了信息收集和整合,形成了自己的《罕见病变异分类ACGS最佳实践指南》并定期更新,笔者对2020年版本进行了翻译和总结,以供广大医学遗传学工作者参阅。

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020,a supplementary practical guidelines,is based on the Standards and Guidelines for the Interpretation of Sequence variations issued by the American Society for Medical Genetics and Genomics(ACMG)and the Association of Molecular Pathology(AMP)in 2015 by the British Medical Genetics Society under the Clinical Genomics Society(ACGS),and has integrated the detailed rules of standards developed by the ClinGen Sequence Variant Interpretation(SVI)Working Group by 2020.The further development of the ACMG/AMP guidelines is currently undertaken by the ClinGen SVI working group in the United States,which focuses on the classification of high penetrance and protein coding variants.ClinGen has established many expert panels on variants for specific diseases which required various evidence thresholds and is currently developing disease/gene specific guidelines.The British Medical Genetics Society has collected and integrated information on the guidelines for sequence variation classification and their extended rules,forming its own"2020 ACGS Best Practice Guidelines for Rare Disease Variation Classification"and is regularly updating it.The author has translated and summarized it for the reference of Chinese Medical Genetics Practitioners.