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从“完全”知情同意到“适当”知情同意在基因组学中的转变:PROMICE 框架。

Moving from 'fully' to 'appropriately' informed consent in genomics: The PROMICE framework.

机构信息

Biomedical Ethics Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Melbourne Law School, University of Melbourne, Melbourne, Victoria, Australia.

出版信息

Bioethics. 2022 Jul;36(6):655-665. doi: 10.1111/bioe.13027. Epub 2022 Apr 7.

Abstract

Genomic sequencing technologies (GS) pose novel challenges not seen in older genetic technologies, making traditional standards for fully informed consent difficult or impossible to meet. This is due to factors including the complexity of the test and the broad range of results it may identify. Meaningful informed consent is even more challenging to secure in contexts involving significant time constraints and emotional distress, such as when rapid genomic testing (RGS) is performed in neonatal intensive care units. In this article, we propose that informed consent matters not for its own sake, but because obtaining it furthers a range of morally important goals, such as promoting autonomy, well-being, and trust in medicine. These goals form the basis of a new framework [PROmoting Morally Important Consent Ends (PROMICE)] for assessing the ethical appropriateness of various informed consent models. We illustrate this framework with two examples: (a) a tiered and layered consent model for obtaining consent for GS, and (b) consent for RGS in critically ill newborns. We conclude that appropriately-rather than fully-informed consent provides the correct standard for genomic medicine and research.

摘要

基因组测序技术(GS)带来了一些新的挑战,这些挑战在旧的遗传技术中并未出现,使得传统的完全知情同意标准难以或不可能满足。这是由于测试的复杂性以及它可能识别的广泛结果等因素所致。在涉及重大时间限制和情绪困扰的情况下,如在新生儿重症监护病房中进行快速基因组检测(RGS)时,更难以确保有意义的知情同意。在本文中,我们提出知情同意不仅仅是为了它自身的缘故,而是因为它的获取有助于实现一系列具有重要道德意义的目标,例如促进自主性、幸福感和对医学的信任。这些目标构成了一个新的框架[促进具有重要道德意义的同意目标(PROMICE)],用于评估各种知情同意模式在伦理上的适当性。我们用两个例子来说明这个框架:(a)用于获得 GS 同意的分层和分层同意模型,以及(b)在危重新生儿中进行 RGS 的同意。我们的结论是,适当的知情同意而不是完全知情同意为基因组医学和研究提供了正确的标准。

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