孕前耳聋基因筛查伦理问题分析及应对措施  

Ethical Issues and Countermeasures of Genetic Screening for Pre-regnancy Deafness

作　　者：李鑫 贾雨薇 伊静 马文兵[1] LI Xin;JIA Yuwei;YI Jing;MA Wenbing(Department of Pharmacology,The First Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710061,China;Department of Genetic Laboratory,Baoji Maternal and Child Health Hospital,Baoji 721000,China)

机构地区：[1]西安交通大学第一附属医院药学部,陕西西安710061 [2]宝鸡市妇幼保健院遗传优生实验室,陕西宝鸡721000

出　　处：《医学与哲学》2024年第13期30-32,60,共4页Medicine and Philosophy

基　　金：2024年陕西省自然科学基金一般项目(2024SFYBXM-111);2023年陕西省药学会医院药学高质量发展研究项目(XM-2023-1-2-7)。

摘　　要：耳聋基因筛查是预防遗传性耳聋的重要手段,日益受到社会关注。然而,其应用过程中伴随着诸多伦理问题:价格较高导致资源分配不均,部分人群无法公平享受此项筛查服务;检测结果的不准确性侵犯受检者的健康权;知情同意落实不到位,受检者权益难以保障;胎儿选择权引发伦理争议;隐私泄露风险不容忽视;专职遗传咨询人才匮乏,咨询质量参差不齐;耳聋基因歧视现象亦存在。提出应该加大社会投入、保障受检者的健康权、规范知情同意、尊重受检者选择权、保护受检者隐私权、加强遗传咨询师队伍建设、提高公众认知度,消除基因歧视应对措施。Genetic screening for deafness is an important means to prevent hereditary deafness,which has attracted increasing social attention.However,there are many ethical issues associated with its application.The high price leads to the uneven distribution of resources,and some groups are unable to enjoy this screening service fairly.Inaccurate test results violate the right to health of the person being tested.The implementation of informed consent is not in place,and it is difficult to protect the rights and interests of the examinee.Fetal choice raises ethical controversy.The risk of privacy leakage cannot be ignored.There is a shortage of full-time genetic counseling talents,and the quality of counseling is uneven.Genetic discrimination against deafness also exists.It is proposed to increase social investment,protect the right to health of the examinee,standardize informed consent,respect the right of the examinee to choose,protect the privacy of the examinee,strengthen the construction of the team of genetic counselors,raise public awareness,and eliminate genetic discrimination.

关 键 词：耳聋基因筛查 知情同意 伦理问题 遗传咨询师 

分 类 号：R-05[医药卫生]