医学遗传学
外显子组测序
医学
临床实习
基因组学
家庭医学
生物
遗传学
基因组
基因
突变
作者
Chen Zhao,Xiaolei Xie,Weizhen Ji,Ming Qi,Qing Zhou,Mengrong Li,Peining Li,Yong‐Hui Jiang,Hui Zhang
出处
期刊:Chinese journal of medical genetics
日期:2021-06-10
卷期号:38 (6): 513-520
标识
DOI:10.3760/cma.j.cn511374-20200924-00691
摘要
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.
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