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讨论脱靶和暂定的基因组发现有时可能是必要的,以便评估其临床意义。

Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance.

机构信息

Clinical Ethics, Law and Society, Wellcome Trust Centre for Human Genetics, Oxford, UK.

Centre for Personalised Medicine, St Anne's College, Oxford, UK.

出版信息

J Med Ethics. 2024 May 9;50(5):295-298. doi: 10.1136/jme-2023-109108.

Abstract

We discuss a case where clinical genomic investigation of muscle weakness unexpectedly found a genetic variant that might (or might not) predispose to kidney cancer. We argue that despite its off-target and uncertain nature, this variant should be discussed with the man who had the test, not because it is medical information, but because this discussion would allow the further clinical evaluation that might lead it to becoming so. We argue that while prominent ethical debates around genomics often take 'results' as a starting point and ask questions as to whether to look for and how to react to them, the construction of genomic results is fraught with ethical complexity, although often couched as a primarily technical problem. We highlight the need for greater focus on, and appreciation of, the ethical work undertaken daily by scientists and clinicians working in genomic medicine and discuss how public conversations around genomics need to adapt to prepare future patients for potentially uncertain and unexpected outcomes from clinical genomic tests.

摘要

我们讨论了一个案例,在对肌肉无力进行临床基因组研究时,意外发现了一个遗传变异,该变异可能(也可能不)导致肾癌。我们认为,尽管该变异与目标无关且不确定,但仍应与接受检测的人进行讨论,这不是因为它是医学信息,而是因为这一讨论可以进行进一步的临床评估,从而使其成为医学信息。我们认为,虽然围绕基因组学的突出伦理辩论通常以“结果”为起点,并提出是否寻找以及如何应对这些结果的问题,但基因组结果的构建充满了伦理复杂性,尽管通常被认为是一个主要的技术问题。我们强调需要更加关注和重视从事基因组医学的科学家和临床医生每天所做的伦理工作,并讨论围绕基因组学的公共对话需要如何进行调整,以使未来的患者为临床基因组检测可能出现的不确定和意外结果做好准备。

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