Wang Jian, Gu Weihong, Huang Hui, Shen Yiping, Xiong Hui, Huang Yi, Qi Ming, An Dongyan, Ma Duan, Deng Xuxu, Gao Yong, Wang Xiaodong, Zhou Zaiwei, Wu Jian, Xu Xiong, Zhang Wei, Kang Hui, Peng Zhiyu, Yu Shihui, Wang Liang, Huang Shangzhi
Peking Union Medical College, WHO Collaborating Center for Community Control of Hereditary Diseases, Beijing 100005, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):334-338. doi: 10.3760/cma.j.issn.1003-9406.2020.03.019.
Pre-testing preparation is the basis and starting point of genetic testing. The process includes collection of clinical information, formulation of testing scheme, genetic counseling before testing, and completion of informed consent and testing authorization. To effectively identify genetic diseases in clinics can greatly improve the diagnostic rate of next generation sequencing (NGS), thereby reducing medical cost and improving clinical efficacy. The analysis of NGS results relies, to a large extent, on the understanding of genotype-phenotype correlations, therefore it is particularly important to collect and evaluate clinical phenotypes and describe them in uniform standard terms. Different types of genetic diseases or mutations may require specific testing techniques, which can yield twice the result with half the effort. Pre-testing genetic counseling can help patients and their families to understand the significance of relevant genetic testing, formulate individualized testing strategies, and lay a foundation for follow-up.
检测前准备是基因检测的基础和起点。该过程包括临床信息收集、检测方案制定、检测前遗传咨询以及完成知情同意和检测授权。在临床中有效识别遗传疾病可大幅提高下一代测序（NGS）的诊断率，从而降低医疗成本并提高临床疗效。NGS结果的分析在很大程度上依赖于对基因型-表型相关性的理解，因此收集和评估临床表型并以统一的标准术语进行描述尤为重要。不同类型的遗传疾病或突变可能需要特定的检测技术，这能起到事半功倍的效果。检测前遗传咨询可帮助患者及其家属了解相关基因检测的意义，制定个性化检测策略，并为后续工作奠定基础。
