van Leeuwen Dirk J, Bernat James L
Section of Gastroenterology and Hepatology in the Department of Medicine, Dartmouth Medical School/Dartmouth Hitchcock-Medical Center, Lebanon, NH 03756, USA.
Hepatology. 2006 Jun;43(6):1195-201. doi: 10.1002/hep.21206.
Advances in molecular genetics challenge the hepatology community to understand and implement genetic knowledge. Despite excitement about the potential benefits of new genetic information, concerns have been raised about the inappropriate use of genetic testing, clinicians' incorrect ordering and misinterpretation of test results, and discrimination in employment and insurability based on tests results. Among the public there is fear and mistrust, in part based on horrifying historical events that were gross violations of medical ethical standards. Clinicians, scientists, patient advocacy groups, and government agencies worldwide are debating the optimal legal protections to prevent abuse. In addition, these groups are developing clinical guidelines for optimal use. Traditional ethical and legal standards of confidentiality between physicians and their patients are under scrutiny. A new principle, "the duty to warn," is emerging that has applications specific to genetic testing and may conflict with the duty to maintain patient confidentiality. Emerging ethical, legal, and social issues involve the appropriate use and protection of confidential data in tissue and serum banks. Education of the profession and the public at many levels will increase the likelihood that the unraveling of the human genome will maximally benefit society. If fear of genetic testing can be alleviated, selection bias in research could be reduced. Professional and lay organizations concerned with liver disease should consider a more active role in the public and professional debate, and foster education at all levels.
分子遗传学的进展促使肝病学界去理解并应用遗传学知识。尽管人们对新的遗传信息可能带来的益处感到兴奋,但对于基因检测的不当使用、临床医生对检测结果的错误开具和错误解读,以及基于检测结果在就业和保险方面的歧视,人们也提出了担忧。在公众中存在恐惧和不信任,部分原因是基于那些严重违反医学伦理标准的可怕历史事件。世界各地的临床医生、科学家、患者权益倡导组织和政府机构正在就防止滥用的最佳法律保护措施展开辩论。此外,这些团体正在制定最佳使用的临床指南。医生与患者之间传统的保密伦理和法律标准正在接受审视。一个新的原则——“警告义务”正在浮现,它在基因检测方面有特定应用,可能与维护患者保密的义务相冲突。新出现的伦理、法律和社会问题涉及组织库和血清库中机密数据的恰当使用和保护。在多个层面上对专业人员和公众进行教育,将增加人类基因组解密最大程度造福社会的可能性。如果对基因检测的恐惧能够减轻,研究中的选择偏倚就可以减少。关注肝病的专业组织和非专业组织应考虑在公众和专业辩论中发挥更积极的作用,并促进各级教育。