摘要
遗传检测前的准备工作是基因检测的基础和出发点,其流程包括临床信息收集、检测方案拟定、检测前遗传咨询以及知情同意书和检测委托书的填写等。临床若能有效识别出遗传性疾病,可极大提高二代测序的诊断率,从而降低医疗成本,提高临床诊疗的功效。二代测序结果的分析在很大程度上依赖于对基因型-表型相关性的了解,全面准确地采集和评估临床表型,并用统一的标准术语来描述和记录尤为重要。不同类型的遗传病或突变种类需要用特定的检测手段方能事半功倍。检测前遗传咨询能够帮助患者及其亲属了解相关基因检测的意义并协助制定个体化的检测策略,为后续的跟踪随访奠定基础。
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.
作者
王剑
顾卫红
黄辉
沈亦平
熊慧
黄颐
祁鸣
安冬艳
马端
邓旭旭
高男
王小冬
周在威
伍健
许雄
张巍
康辉
彭智宇
于世辉
汪亮
黄尚志
Wang Jian;Gu Weihong;Huang Hui;Shen Yiping;Xiong Hui;Huang Yi;Qi Ming;An Dongyan;Ma Duan;Deng Xuxu;Gao Yang;Wang Xiaodong;Zhou Zaiwei;Wu Jian;Xu Xiong;Zhang Wei;Kang Hui;Peng Zhiyu;Yu Shihui;Wang Liang(Shanghai Children’s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;The Chinese Human Phenotype Ontology(CHPO)Consortium,Movement Disorder&Neurogenetics Research Center,Department of Neurology,China-Japan Friendship Hospital,Beijing 100029,China;BGI Genomics.BGI Shenzhen,Guangdong 518083,China;Boston Children's Hospital,Harvard Medical Schools Boston,MA 02115,USA,Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530000,China;Genokon Institute of Medical Science and Laboratory Co.,Ltd.,Xiamen,Fujian 360000,China;Shanghai JIAI Genetics&IVF Institute,Shanghai 200011,China;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;Running Gene Inc.,Beijing 100083,China;Research Center for Birth Defects,Fudan University,Shanghai 200433,China;Berry Genomics Co.,Ltd.,Beijing 102206,China;Beijing GrandOmics Biotechnology Co.,Ltd.,Beijing 102200,China;Cipher Gene Co.,Ltd.,Beijing 100080,China;Shanghai XunYin Co.,Ltd.,Shanghai 201402,China;MyGenostics Inc,Beijing 101318;YearthBio Co.,Ltd.,Changsha,Hunan 410205,China;ArnCare Genomics Lab,LLC,Guangzhou,Guangdong 510300,China;BGI-Shenzhen,Guangdong 518083,China;KingMed Medical Diagnosis Center Co.,Ltd.,Guangzhou,Guangdong 510000,China;Shenzhen GeneClub Consulting Co.,Ltd.,Guangdong 518000,China;Peking Union Medical College,WHO Collaborating Center for Community Control of Hereditary Diseases,Beijing 100005,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第3期334-338,共5页
Chinese Journal of Medical Genetics
关键词
二代测序
表型术语
基因型
检测前遗传咨询
知情同意
Next generation sequencing
Phenotype ontology
Genotype
Pre-testing genetic counselling
Informed consent