聋病遗传咨询师培训需求与现状

Current Status and Needs for Genetic Counselling Training for Deafness

遗传咨询是基因测序转向临床应用必不可少的一环,聋病是常见的出生缺陷,多为单基因病,遵循孟德尔遗传规律,是遗传咨询的重要组成部分。我国存在遗传咨询机构缺乏、无专业的遗传咨询师、公众对遗传咨询认知不足等问题,严重制约了我国基因测序等先进技术的应用和普及。本文就我国遗传咨询现状、需求,结合聋病临床遗传咨询实践和培训经验,对聋病遗传咨询需求、内容及培训现状进行了探讨,以期促进开展和建立规范精准的聋病遗传咨询。

Genetic counseling is an indispensable part of transition of gene sequencing to clinical application.Deafness is a common birth defect,most of which is a single gene disease,following the Mendelian inheritance pattern.Deafness counselling is an important part of genetic counseling.Lack of genetic counseling agencies and professional genetic counselors,and insufficient public awareness of genetic counseling and related issues have severely restricted the application and popularization of advanced technologies such as gene sequencing in China.This article discusses the current status and needs for deafness genetic counseling in China,including clinical genetic counseling practice and authors’experience in professional training in order to promote the development and establishment of standardized and precise genetic counseling for deafness.