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二代测序技术(next generation sequencing,NGS)在临床的应用为广泛开展遗传病的基因检测、病因诊断、治疗及预防奠定了基础,但同时也伴随着一系列的问题,其中很重要的一个环节就是基因检测报告缺乏统一或基本的标准.首届“临床基因检测标准与规范专题研讨会”于2017年10月28日在深圳召开,来自全国138家机构的250多位遗传学专家、临床专家及第三方检测机构的代表共同探讨了遗传病基因检测报告的标准和规范问题.本文根据此次研讨会专家的意见和建议,就遗传病基因检测报告的原则、规范以及基因检测行业的发展进行了讨论,并发布了临床基因检测报告规范共识,以促进检测报告的规范化和标准化,推进我国基因检测行业的健康有序地发展.

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.