癫痫儿童基因检测的伦理学问题探索  

The Investigation on the Ethical Issues of Genetic Testing for Children with Epilepsy

作　　者：杨永华[1] 王荣花[1] 郭洁 刘小红[1] YANG Yonghua;WANG Ronghua;GUO Jie;LIU Xiaohong(Department of Pediatrics,the First Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710100,China;Xi'an Chang'an District Hospital,Xi'an 710100,China)

机构地区：[1]西安交通大学第一附属医院儿科,陕西西安710061 [2]西安市长安区医院,陕西西安710100

出　　处：《中国医学伦理学》2018年第12期1539-1543,共5页Chinese Medical Ethics

基　　金：陕西省重点研发计划项目资助:短程强的松早期添加治疗Lennox-Gastaut综合征的临床疗效与安全性研究(2018SF-096)

摘　　要：近年来,基因诊断技术飞速发展且成本不断降低,二代基因测序技术逐渐成为儿童癫痫遗传病因诊断的重要方法,但随着癫痫儿童基因检测数量的急剧增多,伦理问题也愈来愈突出。通过分析目前癫痫儿童基因检测中存在的伦理问题,如基因检测指征把握、知情同意、偶然发现与披露、基因隐私权与保密,提出制订关于癫痫儿童基因检测告知与结果解读的相关指南、加强对参与癫痫儿童遗传咨询人员资质和能力的培养与监管、开设"儿童癫痫遗传咨询"门诊等解决策略,以期提高参与癫痫儿童诊治的医务工作者对基因检测相关伦理问题的重视与解决能力,为患者提供高质量的遗传咨询服务,提高癫痫儿童的诊治水平。In recent years,the genetic testing technique highly develops and the cost continuously reduces,next generation sequencing has gradually been the important method for the diagnosis of genetic etiology in epileptic children.However,with the sharp increase in the number of genetic testing for epileptic children,the ethical issues have become more and more prominent.Through analyzing the ethical issues existing in genetic testing for children with epilepsy,such as genetic testing indications,informed consent,accidental discovery and disclosure,and genetic privacy and confidentiality,this paper proposed the strategies including developing relevant guidelines for the genetic testing notification and results interpretation for children with epilepsy,strengthening the training and supervision of the qualifications and abilities of genetic counselors involved in epilepsy and establishing the"Children's Epilepsy Genetic Counseling"clinic,to improve the ability of medical workers involved in the diagnosis and treatment of epilepsy patients to pay attention to and solve the ethical issues related to genetic testing,provide high-quality genetic counseling services to patients and improve the diagnosis and treatment of children with epilepsy.

关 键 词：癫痫儿童 基因检测 遗传咨询 医学伦理 

分 类 号：R-052[医药卫生]