[Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry].

基因检测 标准化 医学 考试(生物学) 生物 计算机科学 操作系统 内科学 古生物学
作者
Hui Huang,Yiping Shen,Weihong Gu,Wei Wang,Yiming Wang,Ming Qi,Jun Shen,Zhengqing Qiu,Shihui Yu,Zaiwei Zhou,Baixue Chen,Lei Chen,Yun-Di Chen,Huanhuan Cui,Juan Du,Yong Gao,Yiran Guo,Chanjuan Hu,Liang Hu,Yi Huang
出处
期刊:PubMed 卷期号:35 (1): 1-8 被引量:6
标识
DOI:10.3760/cma.j.issn.1003-9406.2018.01.001
摘要

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.
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