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医学遗传学中的再联系:拓宽知识库的影响。

Recontacting in medical genetics: the implications of a broadening knowledge base.

机构信息

Cardiff University Institute of Cancer and Genetics, Cardiff, SGM, UK.

出版信息

Hum Genet. 2022 May;141(5):1045-1051. doi: 10.1007/s00439-021-02353-5. Epub 2021 Aug 30.

Abstract

The practice of recontacting patients has a long history in medicine but emerged as an issue in genetics as the rapid expansion of knowledge and of testing capacity raised questions about whether, when and how to recontact patients. Until recently, the debate on recontacting has focussed on theoretical concerns of experts. The publication of empirical research into the views of patients, clinicians, laboratories and services in a number of countries has changed this. These studies have filled out, and altered our view of, this issue. Whereas debates on the duty to recontact have explored all aspects of recontact practice, recent contributions have been developing a more nuanced view of recontacting. The result is a narrowing of the scope of the duty, so that a norm on recontacting focuses on the practice of reaching out to discharged patients. This brings into focus the importance of the consent conversation, the resource implications of this duty, and the role of the patient in recontacting.

摘要

患者随访的做法在医学领域有着悠久的历史,但随着知识和检测能力的迅速扩展,人们开始质疑是否以及如何对患者进行随访,这一做法在遗传学领域也成为了一个问题。直到最近,关于重新联系的争论一直集中在专家的理论关注上。在一些国家,对患者、临床医生、实验室和服务机构的意见进行的重新联系的实证研究的发表改变了这一局面。这些研究充实并改变了我们对这个问题的看法。虽然关于重新联系义务的辩论探讨了重新联系实践的所有方面,但最近的研究进展为重新联系提供了更细致入微的观点。其结果是缩小了义务的范围,使重新联系的规范侧重于与已出院患者的接触。这使得同意谈话的重要性、这一义务的资源影响以及患者在重新联系中的作用成为焦点。

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Is there a duty to reinterpret genetic data? The ethical dimensions.是否有义务重新解释基因数据?伦理维度。
Genet Med. 2020 Mar;22(3):633-639. doi: 10.1038/s41436-019-0679-7. Epub 2019 Oct 15.

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