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诊断分层:分子时代的乳腺癌分类患者报告。

Diagnostic layering: Patient accounts of breast cancer classification in the molecular era.

机构信息

Usher Institute, Old Medical School, University of Edinburgh, Edinburgh, Scotland, EH8 9AG, UK; Department of Sociological Studies, University of Sheffield, Elmfield Building, Northumberland Road, Sheffield, S10 2TU, UK.

Centre for Biomedicine, Self and Society, Usher Institute, Old Medical School, University of Edinburgh, Edinburgh, Scotland, EH8 9AG, UK.

出版信息

Soc Sci Med. 2021 Jun;278:113965. doi: 10.1016/j.socscimed.2021.113965. Epub 2021 Apr 28.

DOI:10.1016/j.socscimed.2021.113965
PMID:33940433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8146724/
Abstract

Social scientific work has considered the promise of genomic medicine to transform healthcare by personalising treatment. However, little qualitative research attends to already well-established molecular techniques in routine care. In this article we consider women's experiences of routine breast cancer diagnosis in the UK NHS. We attend to patient accounts of the techniques used to subtype breast cancer and guide individual treatment. We introduce the concept of 'diagnostic layering' to make sense of how the range of clinical techniques used to classify breast cancer shape patient experiences of diagnosis. The process of diagnostic layering, whereby various levels of diagnostic information are received by patients over time, can render diagnosis as incomplete and subject to change. In the example of early breast cancer, progressive layers of diagnostic information are closely tied to chemotherapy recommendations. In recent years a genomic test, gene expression profiling, has become introduced into routine care. Because gene expression profiling could indicate a treatment recommendation where standard tools had failed, the technique could represent a 'final layer' of diagnosis for some patients. However, the test could also invalidate previous understandings of the cancer, require additional interpretation and further prolong the diagnostic process. This research contributes to the sociology of diagnosis by outlining how practices of cancer subtyping shape patient experiences of breast cancer. We add to social scientific work attending to the complexities of molecular and genomic techniques by considering the blurring of diagnostic and therapeutic activities from a patient perspective.

摘要

社会科学研究曾考虑通过个性化治疗使基因组医学改变医疗保健的前景。然而,很少有定性研究关注常规护理中已经成熟的分子技术。本文考虑了英国国民保健制度中女性在常规乳腺癌诊断中的经历。我们关注患者对用于乳腺癌亚型分类的技术的描述,以及这些技术如何指导个体治疗。我们引入“诊断分层”的概念,以理解用于分类乳腺癌的各种临床技术如何塑造患者的诊断体验。随着时间的推移,诊断分层的过程,即患者逐渐接收不同层次的诊断信息,可以使诊断变得不完整且可能发生变化。在早期乳腺癌的例子中,逐步的诊断信息层与化疗建议密切相关。近年来,一种名为基因表达谱分析的基因组测试已被引入常规护理。由于基因表达谱分析可以为标准工具未能确定的治疗建议提供依据,因此该技术可能代表一些患者的“最终诊断层”。然而,该测试也可能使之前对癌症的理解失效,需要进一步解释,并进一步延长诊断过程。本研究通过概述癌症分型实践如何塑造患者的乳腺癌体验,为诊断社会学做出了贡献。我们通过从患者角度考虑诊断和治疗活动的模糊性,增加了关注分子和基因组技术复杂性的社会科学研究。

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Unsettling the treatment imperative? Chemotherapy decision-making in the wake of genomic techniques.颠覆治疗至上原则?基因检测技术背景下的化疗决策
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本文引用的文献

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Using autoimmune strategically: Diagnostic lumping, splitting, and the experience of illness.巧用自身免疫:诊断的归类、拆分与疾病体验。
Soc Sci Med. 2020 Feb;246:112785. doi: 10.1016/j.socscimed.2020.112785. Epub 2020 Jan 7.
2
Imperfect biomarkers for adjuvant chemotherapy in early stage breast cancer with good prognosis.早期预后良好的乳腺癌辅助化疗的不完美生物标志物。
Soc Sci Med. 2020 Feb;246:112735. doi: 10.1016/j.socscimed.2019.112735. Epub 2019 Dec 14.
3
Constructing classification boundaries in the memory clinic: negotiating risk and uncertainty in constituting mild cognitive impairment.在记忆诊所构建分类边界:在构成轻度认知障碍时协商风险和不确定性。
Sociol Health Illn. 2020 Aug;42 Suppl 1:99-113. doi: 10.1111/1467-9566.13016. Epub 2019 Nov 14.
4
Tumour profiling tests to guide adjuvant chemotherapy decisions in early breast cancer: a systematic review and economic analysis.肿瘤分析测试指导早期乳腺癌辅助化疗决策:系统评价和经济分析。
Health Technol Assess. 2019 Jun;23(30):1-328. doi: 10.3310/hta23300.
5
Genomic research and the cancer clinic: uncertainty and expectations in professional accounts.基因组研究与癌症临床:专业叙述中的不确定性与期望
New Genet Soc. 2019 Mar 7;38(2):222-239. doi: 10.1080/14636778.2019.1586525. eCollection 2019.
6
Online accounts of gene expression profiling in early-stage breast cancer: Interpreting genomic testing for chemotherapy decision making.在线的早期乳腺癌基因表达谱分析账户:解读化疗决策的基因组检测。
Health Expect. 2019 Feb;22(1):74-82. doi: 10.1111/hex.12832. Epub 2018 Nov 1.
7
The UK's 100,000 Genomes Project: manifesting policymakers' expectations.英国的“十万基因组计划”:兑现政策制定者的期望。
New Genet Soc. 2017 Sep 6;36(4):336-353. doi: 10.1080/14636778.2017.1370671. eCollection 2017.
8
Breast cancers are rare diseases-and must be treated as such.乳腺癌是罕见疾病,必须如此对待。
NPJ Breast Cancer. 2017 Apr 11;3:11. doi: 10.1038/s41523-017-0013-y. eCollection 2017.
9
The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.细微的阴性结果:临床外显子组测序中阴性诊断结果的含义
Sociol Health Illn. 2016 Nov;38(8):1303-1317. doi: 10.1111/1467-9566.12460. Epub 2016 Aug 19.
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Stratified, precision or personalised medicine? Cancer services in the 'real world' of a London hospital.分层医疗、精准医疗还是个性化医疗?伦敦一家医院“现实世界”中的癌症服务。
Sociol Health Illn. 2017 Jan;39(1):143-158. doi: 10.1111/1467-9566.12457. Epub 2016 Jul 27.