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扫描身体,测序基因组:处理意外发现。

Scanning the body, sequencing the genome: Dealing with unsolicited findings.

作者信息

Wouters Roel H P, Cornelis Candice, Newson Ainsley J, Bunnik Eline M, Bredenoord Annelien L

出版信息

Bioethics. 2017 Nov;31(9):648-656. doi: 10.1111/bioe.12375. Epub 2017 Oct 4.

DOI:10.1111/bioe.12375
PMID:28975656
Abstract

The introduction of novel diagnostic techniques in clinical domains such as genomics and radiology has led to a rich ethical debate on how to handle unsolicited findings that result from these innovations. Yet while unsolicited findings arise in both genomics and radiology, most of the relevant literature to date has tended to focus on only one of these domains. In this article, we synthesize and critically assess similarities and differences between "scanning the body" and "sequencing the genome" from an ethical perspective. After briefly describing the novel diagnostic contexts leading to unsolicited findings, we synthesize and reflect on six core ethical issues that relate to both specialties: terminology; benefits and risks; autonomy; disclosure of unsolicited findings to children; uncertainty; and filters and routine screening. We identify ethical rationales that pertain to both fields and may contribute to more ethically sound policies. Considerations of preserving public trust and ensuring that people perceive healthcare policies as fair also support the need for a combined debate.

摘要

在基因组学和放射学等临床领域引入新型诊断技术,引发了一场关于如何处理这些创新所带来的意外发现的丰富伦理辩论。然而,虽然意外发现在基因组学和放射学中都会出现,但迄今为止,大多数相关文献往往只关注其中一个领域。在本文中,我们从伦理角度综合并批判性地评估“扫描身体”和“对基因组进行测序”之间的异同。在简要描述导致意外发现的新型诊断背景后,我们综合并思考了与这两个专业相关的六个核心伦理问题:术语;益处和风险;自主性;向儿童披露意外发现;不确定性;以及筛选和常规筛查。我们确定了与这两个领域都相关的伦理依据,这些依据可能有助于制定更符合伦理的政策。维护公众信任以及确保人们认为医疗保健政策是公平的考量,也支持进行联合辩论的必要性。

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Scanning the body, sequencing the genome: Dealing with unsolicited findings.扫描身体,测序基因组:处理意外发现。
Bioethics. 2017 Nov;31(9):648-656. doi: 10.1111/bioe.12375. Epub 2017 Oct 4.
2
[Ethical dilemmas in a general practitioner's clinic due to incidental findings resulting from whole genome sequencing].[全科医生诊所中因全基因组测序的偶然发现导致的伦理困境]
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Incidentalomas in genomics and radiology.基因组学和放射学中的偶发瘤。
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Whole genome sequencing in children: ethics, choice and deliberation.儿童全基因组测序:伦理、选择与审议
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Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics.反思早期在非预期发现方面的经验:下一代测序和诊断知情同意中的注意要点。
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Managing the ethical challenges of next-generation sequencing in genomic medicine.应对基因组医学中下一代测序的伦理挑战。
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[Ethical issues in genome-era].[基因组时代的伦理问题]
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[Unsolicited genomic findings in daily clinical practice].日常临床实践中的非邀约性基因组发现
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Models of consent to return of incidental findings in genomic research.同意返回基因组研究偶然发现结果的模型。
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Eur J Cancer. 2021 May;148:405-410. doi: 10.1016/j.ejca.2021.02.029. Epub 2021 Mar 27.

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Can J Pain. 2025 Jan 17;8(2):2425596. doi: 10.1080/24740527.2024.2425596. eCollection 2024.
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Predicting age of onset and progression of disease in late-onset genetic neurodegenerative diseases: An ethics review and research agenda.预测晚发性遗传神经退行性疾病的发病年龄和疾病进展:伦理审查和研究议程。
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父母在胎儿孕期出现主要超声异常时对快速外显子组测序的体验。
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Identification and management of pragmatic clinical trial collateral findings: A current understanding and directions for future research.实用临床试验伴随发现的识别和管理:当前的理解和未来研究方向。
Healthc (Amst). 2021 Dec;9(4):100586. doi: 10.1016/j.hjdsi.2021.100586. Epub 2021 Sep 29.
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The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.儿科全基因组测序中的伦理问题全景:系统定性综述。
BMC Pediatr. 2021 Sep 6;21(1):387. doi: 10.1186/s12887-021-02830-w.
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Preferences to receive unsolicited findings of germline genome sequencing in a large population of patients with cancer.在癌症患者的大人群中,对接收非邀约性胚系基因组测序结果的偏好。
ESMO Open. 2020 Apr;5(2). doi: 10.1136/esmoopen-2019-000619.