下一代测序中诊断的社会塑造

IF 1.3 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY New Genetics and Society Pub Date : 2021-01-20 DOI:10.1080/14636778.2020.1853514
J. Kuiper, P. Borry, D. Vears, I. van Hoyweghen
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引用次数: 4

摘要

虽然下一代测序(NGS)提高了我们的检测和诊断能力,但其结果往往不明确,需要医疗保健专业人员和相关患者进行复杂的解释和协商过程。在本文中,我们探讨了在更广泛的社会背景的影响下,通过NGS确定的诊断是如何被社会塑造的。使用源自健康与疾病社会学和科学技术研究的分析框架,重点关注诊断的构建和不确定性在医学中的作用,我们分析了关于NGS诊断实践的现有文献语库。我们展示了在NGS的早期实施阶段,标准化工作尚未固化,围绕通过NGS获得的诊断的边界斗争是如何特别明显的。我们讨论了诊断形成过程中的不同步骤,以及随后使用NGS给出和接受诊断所需要的内容。
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The social shaping of a diagnosis in Next Generation Sequencing
Although Next Generation Sequencing (NGS) has increased our ability to test and diagnose, its results are often not clear-cut and require a complex interpretation and negotiation process by both healthcare professionals and patients involved. In this paper, we explore how diagnoses identified through NGS are socially shaped under influence of the broader social context. Using an analytical framework stemming from the sociology of health and illness and science and technology studies, with a focus on the construction of diagnosis and the role of uncertainty in medicine, we analyze the existing corpus of literature on NGS diagnostic practices. We show how in this early implementation phase of NGS, in which standardization efforts are not yet solidified, the boundary struggles around diagnoses obtained through NGS are particularly visible. We discuss the different steps in the diagnosis shaping process and what it subsequently entails to give and a receive a diagnosis using NGS.
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来源期刊
New Genetics and Society
New Genetics and Society 生物-生物工程与应用微生物
CiteScore
4.30
自引率
16.70%
发文量
19
审稿时长
>12 weeks
期刊介绍: New Genetics and Society: Critical Studies of Contemporary Biosciences is a world-leading journal which: -Provides a focus for interdisciplinary and multi-disciplinary, leading-edge social science research on the new genetics and related biosciences; -Publishes theoretical and empirical contributions reflecting its multi-faceted development; -Provides an international platform for critical reflection and debate; -Is an invaluable research resource for the many related professions, including health, medicine and the law, wishing to keep abreast of fast changing developments in contemporary biosciences. New Genetics and Society publishes papers on the social aspects of the new genetics (widely defined), including gene editing, genomics, proteomics, epigenetics and systems biology; and the rapidly developing biosciences such as biomedical and reproductive therapies and technologies, xenotransplantation, stem cell research and neuroscience. Our focus is on developing a better understanding of the social, legal, ethical and policy aspects, including their local and global management and organisation.
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