基因组测序结果再分析标准化的必要性:对基因组研究中未得到服务的家庭的访谈结果。

IF 1.8 3区 哲学 Q2 ETHICS Journal of Bioethical Inquiry Pub Date : 2024-03-01 Epub Date: 2023-08-25 DOI:10.1007/s11673-023-10267-2
Simon M Outram, Shannon Rego, Matthew Norstad, Sara Ackerman
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引用次数: 0

摘要

基因组测序结果的再分析有可能提供对接受者具有重大医疗和个人意义的结果。通过对 47 个主要是医疗服务不足的家庭进行访谈和人种学观察,我们认为迫切需要对重新分析的方法进行标准化。我们的研究结果强调,研究参与者不清楚重新分析发生的可能性、启动重新分析的过程以及他们是否会收到修订后的结果。他们的反映反映了在临床环境中,同意和结果会议缺乏对重新分析的具体关注。需要建立机制,规范研究和临床中的再分析方法。这将使临床医生和遗传咨询师能够与研究参与者就重新分析结果的可能性和重新分析的过程进行清晰的沟通。我们认为,重新分析的作用非常重要,不能临时提及。此外,鉴于只有那些有能力要求进行再分析的家庭才有可能得到再分析,因此当前流程的临时性可能会加剧健康不公平。
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The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.

The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.

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来源期刊
Journal of Bioethical Inquiry
Journal of Bioethical Inquiry 医学-医学:伦理
CiteScore
5.20
自引率
8.30%
发文量
67
审稿时长
>12 weeks
期刊介绍: The JBI welcomes both reports of empirical research and articles that increase theoretical understanding of medicine and health care, the health professions and the biological sciences. The JBI is also open to critical reflections on medicine and conventional bioethics, the nature of health, illness and disability, the sources of ethics, the nature of ethical communities, and possible implications of new developments in science and technology for social and cultural life and human identity. We welcome contributions from perspectives that are less commonly published in existing journals in the field and reports of empirical research studies using both qualitative and quantitative methodologies. The JBI accepts contributions from authors working in or across disciplines including – but not limited to – the following: -philosophy- bioethics- economics- social theory- law- public health and epidemiology- anthropology- psychology- feminism- gay and lesbian studies- linguistics and discourse analysis- cultural studies- disability studies- history- literature and literary studies- environmental sciences- theology and religious studies
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