基因组时代分子遗传学检测应用涉及的法律和伦理问题  

Legal and Ethical Issues Involved in the Application of Molecular Genetics Examination in the Genomic Era

作　　者：关健[1] 

机构地区：[1]北京协和医学院&中国医学科学院北京协和医院国家人口与健康科学数据共享服务平台临床医学科学数据中心,北京100730

出　　处：《中国医学伦理学》2018年第3期273-277,共5页Chinese Medical Ethics

摘　　要：细胞和分子遗传学促进了人类遗传学研究和个性化医疗。新的DNA测序技术,特别是高通量测序技术在降低检测成本的同时,也在法律和伦理方面引起一些新的问题。全外显子测序和全基因组测序的潜在应用日益增多,导致在基因咨询时不可避免地面对如何披露偶然发现等法律和伦理问题。互联网增加了个体隐私和遗传信息泄露的风险。而直接面对消费者这种缺乏医生指导下进行基因检测的商业检测,使这些问题和隐患更为突出。目前我国相关的法律法规和指南更多关注和规范技术,缺乏对分子遗传检测送检和结果解释解读内容和程序的规范和指导的规定和指南,缺乏对相关人员的资质的要求。相关部门和组织应该制定政策和指南,指导遗传检测的利益相关者,以最大限度降低其风险,发挥优势,促进人类精准医学和个性化诊疗、预防。Advances in cell and molecular genetics have contributed to the development of human genetic research and personalized medicine. The enhanced capacity of the new DNA sequencing technologies,especially the high-throughput sequencing,is not only reducing the cost of sequencing but is also enabling some new questions.The potential utilization of whole exome sequencing( WES) and whole genome sequencing( WGS) is increasing in the research and clinical setting. And there is a potential for the genetic counselors' of recognition and reporting of incidental or secondary findings unrelated to the indication for ordering but of medical value for patient care,which inevitably create prominent legal and ethical issues. In addition,the internet increases the risk of private information and genetic information disclosure both for research and clinical practice. Moreover,these questions maybe more significant when commercial tests in multiplex genetic profiles are currently being provided to consumerswithout the physicians' consultation,referred to as direct-to-consumer genetic tests( DTCgt). Existing laws,regulations and guidelines in China mostlycontrol and standardize technical aspects. Special regulations and rules for genetic arrangement and results explaining and interpretation remain needed; besides,the qualification of relevant personnel. The molecular genetic testing-related stakeholders include the providers,professional practitioners,and consumers &subjects,should realize these problems. Governments and professional organizations should produce policies,guidelines,and recommendations for the related stakeholders,such as testing providers andconsultants,to minimize the risks,and maximize the advantages of molecular genetic technologies,thus promote precision medicine and personalized therapy and disease prevention.

关 键 词：全基因组测序 分子遗传学 直接面对消费者的基因检测 不知情权 法律和伦理 

分 类 号：R-052[医药卫生]