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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.

DOI:10.1007/s00439-021-02353-5
PMID:34459979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9160136/
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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Recontacting in medical genetics: the implications of a broadening knowledge base.医学遗传学中的再联系:拓宽知识库的影响。
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本文引用的文献

1
Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.重新解释、重新分类及其下游影响:临床实验室遗传学家面临的挑战。
BMC Med Genomics. 2019 Nov 29;12(1):170. doi: 10.1186/s12920-019-0612-6.
2
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.
3
Familial genetic risks: how can we better navigate patient confidentiality and appropriate risk disclosure to relatives?家族遗传风险:我们如何在保护患者隐私的同时,更好地向亲属进行适当的风险披露?
J Med Ethics. 2019 Aug;45(8):504-507. doi: 10.1136/medethics-2018-105229. Epub 2019 May 23.
4
Experts reflecting on the duty to recontact patients and research participants; why professionals should take the lead in developing guidelines.专家们对再次联系患者和研究参与者的职责进行反思;为何专业人士应带头制定指导方针。
Eur J Med Genet. 2020 Feb;63(2):103642. doi: 10.1016/j.ejmg.2019.03.006. Epub 2019 Mar 20.
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Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).基因组检测结果修订后的患者重新联系:需考虑的要点——美国医学遗传学与基因组学学会(ACMG)声明
Genet Med. 2019 Apr;21(4):769-771. doi: 10.1038/s41436-018-0391-z. Epub 2018 Dec 22.
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Recontacting clinical genetics patients with reclassified results: equity and policy challenges.向临床遗传学患者重新传达重新分类的结果:公平性与政策挑战
Eur J Hum Genet. 2019 Apr;27(4):505-506. doi: 10.1038/s41431-018-0313-1.
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Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.临床遗传学服务中患者的再联系:欧洲人类遗传学会的建议。
Eur J Hum Genet. 2019 Feb;27(2):169-182. doi: 10.1038/s41431-018-0285-1. Epub 2018 Oct 11.
8
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.临床基因组测序知情同意书中 VUS 报告、变异重新解读和再联系政策分析。
Eur J Hum Genet. 2018 Dec;26(12):1743-1751. doi: 10.1038/s41431-018-0239-7. Epub 2018 Aug 24.
9
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.是否重新联系?欧洲临床遗传中心当前实践情况调查。
Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.
10
Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives.鉴于针对智力残疾患者的新基因诊断技术进行再次联系:可行性及家长观点。
Eur J Med Genet. 2018 Apr;61(4):213-218. doi: 10.1016/j.ejmg.2017.11.017. Epub 2017 Nov 27.