聋病遗传咨询专家共识  

Expert Consensus on Genetic Counseling for Hearing Loss

作　　者：关静[1,2,5] 贺林 杨仕明[1,2,5] 王秋菊 GUAN Jing;HE Lin;YANG Shiming;WANG Qiuju(Senior Department of Otolaryngology Head and Neck Surgery,Chinese PLA General Hospital,Beijing 100853,China;National Clinical Research Center for Otolaryngologic Diseases,Beijing 100853,China;Bio-X Institutes of Shanghai Jiao Tong University,Shanghai 200030,China;Suzhou Biox Life Intelligence Industry Research Institute,Suzhou 215000,China;China Deafness Genome Project/Human Genome Project of Single Target-Deafness Project Groups)

机构地区：[1]中国人民解放军总医院耳鼻咽喉头颈外科医学部,北京100853 [2]国家耳鼻咽喉疾病临床医学研究中心,北京100853 [3]上海交通大学Bio-X研究院,上海200030 [4]苏州BioX生命智能产业研究院,苏州215000 [5]中国聋病基因组计划(CDGP)/中国聋病单靶标基因组计划(HGPST-D)项目组

出　　处：《中华耳科学杂志》2022年第2期222-226,共5页Chinese Journal of Otology

基　　金：国家自然科学基金重点项目(81830028),国家自然科学基金青年项目(81900951,81900950),国家自然科学基金面上项目(82171130)联合资助~~。

摘　　要：聋病遗传咨询是将患者基因信息进行临床注释,帮助人们理解和适应遗传因素对聋病发生的综合解读过程,在聋病三级防控中发挥着无法替代的关键作用。本共识聚焦于对聋病遗传咨询的适用人群、样本采集、报告解读、遗传咨询决策和人员资质培训等全流程全要素关键环节的规范指导,以期更好地推进中国聋病基因组计划/中国聋病单靶标基因组计划实施,形成传统医学、基因组学和遗传咨询为一体的“新医学”模式服务于聋病防控的临床实践。Genetic counseling for hearing loss is a specialty which has grown out of the need to personalize highly scientific information from the laboratory and to translate it into a user-friendly language which can be easily digested, both intellectually and emotionally, by individuals and families. Identifying the genetic basis of hearing loss provides crucial information for diagnosis, intervention and treatment of the disease. This consensus focuses on normative guidance of the whole process of genetic counseling for hearing loss, including target populations, sample collection, interpretation of sequence variants reports, decision-making in genetic counseling and professional consultants training, in order to better promote the implementation of China Deafness Genome Project/Human Genome Project of Single TargetDeafness Project. The "new medicine" model of traditional medicine, genomics and genetic consultation should be formed to support the clinical practice of prevention and control of hereditary hearing loss.

关 键 词：听力损失 遗传咨询 基因组学 中国聋病基因组计划 

分 类 号：R764[医药卫生—耳鼻咽喉科]