Berkman Benjamin E
Department of Bioethics at the National INST.s of Health, and is the Deputy Director of the Bioethics Core at the National Human Genome Research INST.
J Health Care Law Policy. 2017;19(1):1-72. Epub 2016 Nov 4.
While promising to eventually revolutionize medicine, the capacity to cheaply and quickly generate an individual's entire genome has not been without controversy. Producing information on this scale seems to violate some of the accepted norms governing the practice of medicine, norms that evolved during the early years of genetic testing when a targeted paradigm dominated. One of these widely accepted norms was that an individual had a right not to know genetic information about him or herself. Prompted by evolving professional practice guidelines, the right not to know has become a highly controversial topic. The medical community and bioethicists are actively engaged in a contentious debate about the extent to which individual choice should play a role (if at all) in determining which clinically significant findings are returned. This paper explores the extent to which it is legally and ethically necessary to respect the so-called right not to know genetic information about oneself. Challenging the majority view that the right not to know is sacrosanct, I push back against that vigorously held (although not always rigorously defended) position, in defense of the idea that we should abandon the notion of a strong right not to know. Drawing on the fields of law, philosophy and social science, I provide an extended argument in support of a default for returning high value genetic information without asking about a preference not to know. I conclude by offering some recommendations about how best to balance individual autonomy and professional beneficence as the field of genomic medicine continues to evolve.
尽管能够廉价且快速地生成个人的全基因组有望给医学带来革命性变化,但这一能力并非毫无争议。如此大规模地生成信息似乎违背了一些公认的医学实践规范,这些规范是在基因检测早期以靶向模式为主导时逐渐形成的。其中一个被广泛接受的规范是,个人有权不知道关于自己的基因信息。在不断演变的专业实践指南的推动下,不知情权已成为一个极具争议的话题。医学界和生物伦理学家正在积极参与一场激烈的辩论,讨论在确定哪些具有临床意义的结果需要反馈时,个人选择应在多大程度上发挥作用(如果有作用的话)。本文探讨了在法律和伦理上尊重所谓的个人不知情权的必要性程度。我对不知情权神圣不可侵犯这一主流观点提出质疑,坚决反对这一虽被广泛持有(但并非总是经过严密论证)的立场,支持我们应摒弃强硬的不知情权这一观念。借鉴法律、哲学和社会科学领域的观点,我进行了详细论证,支持在不询问是否偏好不知情的情况下默认反馈高价值基因信息。最后,我就随着基因组医学领域不断发展,如何最好地平衡个人自主权和专业人员的行善责任提出了一些建议。