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

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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作者单位: BGI Genomics, BGI-Shenzhen, Guangdong 518083, China; Beijing Union Medical College, WHO Collaborating Center for Community Control of Hereditary Diseases, Beijing 100005, China. Email: hsz_pumc@ibms.pumc.edu.cn; pengzhiyu@bgi.com. [1]
期刊:
《Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics》 2018年35卷1期1-8页
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.001
发布时间: 2018-06-05
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