Huang Hui, Shen Yiping, Gu Weihong, Huang Yi, Wang Xiaodong, Gao Yong, Xiong Hui, Zhou Zaiwei, Wu Jing, Ma Duan, An Dongyan, Zhang Wei, Fu Qinmei, Xiong Xi, Peng Zhiyu, Wang Liang, Huang Shangzhi, Qi Ming
The First Affiliated Hospital, SRRS Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China; Zhejiang DIAN Diagnostics Co., Ltd., Hangzhou, Zhejiang 310013, China; University of Rochester Medical Center, New York, NY 14642, USA.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):352-357. doi: 10.3760/cma.j.issn.1003-9406.2020.03.022.
Clinical genetic testing results are compiled into a standardized report by genetic specialists and provided to clinicians and patients (Should the patient be intellectually disabled or under 18, the report will be provided to his/her parents or legal guardians). The content of genetic testing report should conform to relevant guidelines, industry standards and consensus. The decisions of clinicians will be made based on the report and clinical indications. Genetic counselors should provide post-test counseling to clinicians and patients or their authorized family members. A mechanism of follow-up visit after the genetic testing should be established with informed consent. Data should be shared by clinical institutions and genome sequencing institutions. As findings upon follow-up visit can help with further evaluation of the results, genome sequencing institutions should regularly re-analyze historical and follow-up data, and the updated results should be shared with clinical institutions. All activities involving reporting, genetic counselling, follow-up visiting, and re-analyzing should follow the relevant guidelines and regulations.
临床基因检测结果由基因专家汇编成标准化报告，并提供给临床医生和患者（如果患者为智障人士或18岁以下未成年人，报告将提供给其父母或法定监护人）。基因检测报告的内容应符合相关指南、行业标准和共识。临床医生将根据报告和临床指征做出决策。基因咨询师应为临床医生和患者或其授权的家庭成员提供检测后咨询。应在获得知情同意的情况下建立基因检测后的随访机制。临床机构和基因组测序机构应共享数据。由于随访结果有助于进一步评估检测结果，基因组测序机构应定期重新分析历史数据和随访数据，并将更新后的结果与临床机构共享。所有涉及报告、基因咨询、随访和重新分析的活动均应遵循相关指南和规定。
