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

Hui Huang; Pengzhiyu@bgicom; Yiping Shen; Weihong GU; Wei Wang; Yiming Wang; Ming QI; Jun Shen; Zhengqing Qiu; Shihui YU; Zaiwei Zhou; Baixue Chen; Lei Chen; Yundi Chen; Huanhuan Cui; Juan DU; Yong Gao; Yiran Guo; Chanjuan HU; Liang HU; Yi Huang; Peipei LI; Xiaorong LI; Xiurong LI; Yaping Liu; Jie LU; Duan MA; Yongyi MA; Mei Peng; Fang Song; Hongye Sun; Liang Wang; Dawei Wang; Jingmin Wang; Ling Wang; Zhengyuan Wang; Zhinong Wang; Jihong WU; Jing WU; Jian WU; Yimin XU; Hong Yao; Dongsheng Yang; Xu Yang; Yanling Yang; Ying Zhang; Yulin Zhou; Baosheng Zhu; Sicong Zeng; Zhiyu Peng; Shangzhi Huang

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

VernacularTitle:临床基因检测报告规范与基因检测行业共识探讨
Author: Hui HUANG ^{1
,

2
,

3} ; pengzhiyu@bgi.com. ; Yiping SHEN ; Weihong GU ; Wei WANG ; Yiming WANG ; Ming QI ; Jun SHEN ; Zhengqing QIU ; Shihui YU ; Zaiwei ZHOU ; Baixue CHEN ; Lei CHEN ; Yundi CHEN ; Huanhuan CUI ; Juan DU ; Yong GAO ; Yiran GUO ; Chanjuan HU ; Liang HU ; Yi HUANG ; Peipei LI ; Xiaorong LI ; Xiurong LI ; Yaping LIU ; Jie LU ; Duan MA ; Yongyi MA ; Mei PENG ; Fang SONG ; Hongye SUN ; Liang WANG ; Dawei WANG ; Jingmin WANG ; Ling WANG ; Zhengyuan WANG ; Zhinong WANG ; Jihong WU ; Jing WU ; Jian WU ; Yimin XU ; Hong YAO ; Dongsheng YANG ; Xu YANG ; Yanling YANG ; Ying ZHANG ; Yulin ZHOU ; Baosheng ZHU ; Sicong ZENG ; Zhiyu PENG ; Shangzhi HUANG
Author Information

1. BGI Genomics, BGI-Shenzhen, Guangdong 518083, China
2. Beijing Union Medical College, WHO Collaborating Center for Community Control of Hereditary Diseases, Beijing 100005, China. Email: hsz_pumc@ibms.pumc.edu.cn
3. pengzhiyu@bgi.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2018;35(1):1-8
CountryChina
Language:Chinese
Abstract: 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.