今日聋病遗传咨询  被引量:1

Genetic counseling for hearing loss today

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作  者:王秋菊[1] 贺林[2] WANG Qiuju;HE Lin(Department of Audiology and Vestibular Medicine,Senior Department of Otolaryngology Head and Neck Surgery,the Sixth Medical Center of PLA General Hospital,Beijing,100853,China;Bio-X Institutes,Shanghai Jiao Tong University)

机构地区:[1]解放军总医院耳鼻咽喉头颈外科医学部耳鼻咽喉内科、国家耳鼻咽喉疾病临床医学研究中心、解放军耳鼻咽喉研究所,北京100853 [2]上海交通大学Bio-X研究院

出  处:《临床耳鼻咽喉头颈外科杂志》2024年第1期1-7,共7页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基  金:国家自然科学基金面上项目(No:82271171、82271189、82171130);国家自然科学基金优秀青年基金项目(No:82222016);国家自然科学基金原创探索项目(No:82350005)。

摘  要:今日聋病遗传咨询来自对遗传性耳聋基因密码的破译,作为诊疗体系的重要组成部分在聋病防控中发挥重要作用。本文阐述了聋病遗传咨询的主要原则及内容、不同遗传模式下的咨询要点和在聋病三级预防中的应用;介绍了AI辅助聋病遗传咨询决策系统的应用前景,并对通过聋病遗传咨询实现遗传性耳聋的可防可诊可治进行了展望。今日聋病遗传咨询具有新时代特征,与科学技术进步密不可分,必将助力精准基因干预!Genetic counseling for hearing loss today originated from decoding the genetic code of hereditary hearing loss,which serves as an effective strategy for preventing hearing loss and constitutes a crucial component of the diagnostic and therapeutic framework.This paper described the main principles and contents of genetic counseling for hearing loss,the key points of counseling across various genetic models and its application in tertiary prevention strategies targeting hearing impairment.The prospects of an AI-assisted genetic counseling decision system and the envisions of genetic counseling in preventing hereditary hearing loss were introduced.Genetic counseling for hearing loss today embodies the hallmark of a new era,which is inseparable from the advancements in science and technology,and will undoubtedly contribute to precise gene intervention!

关 键 词:听力损失 遗传咨询 中国聋病基因组计划 人工智能 

分 类 号:R764.43[医药卫生—耳鼻咽喉科]

 

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