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"It's personalized, but it's still bucket based": The promise of personalized medicine vs. the reality of genomic risk stratification in a breast cancer screening trial. "它是个性化的,但仍然是基于桶的":个性化医疗的承诺与乳腺癌筛查试验中基因组风险分层的现实。
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2022-01-01 Epub Date: 2022-09-02 DOI: 10.1080/14636778.2022.2115348
Jennifer Elyse James, Galen Joseph

Adaptive pragmatic clinical trials offer an innovative approach that integrates clinical care and research. Yet, blurring the boundaries between research and clinical care raises questions about how clinicians and investigators balance their caregiving and research roles and what types of knowledge and risk assessment are most valued. This paper presents findings from an ethnographic ELSI (Ethical, Legal, Social Implications) study of an innovative clinical trial of risk-based breast cancer screening that utilizes genomics to stratify risk and recommend a breast cancer screening commensurate with the assessed risk. We argue that the trial demonstrates a fundamental tension between the promissory ideals of personalized medicine, and the reality of implementing risk stratified care on a population scale. We examine the development of a Screening Assignment Review Board in response to this tension which allows clinician-investigators to negotiate, but never fully resolve, the inherent contradiction of 'precision population screening'.

适应性实用临床试验提供了一种将临床护理与研究相结合的创新方法。然而,研究与临床护理之间界限的模糊化提出了临床医生和研究人员如何平衡护理与研究角色的问题,以及哪些类型的知识和风险评估最有价值的问题。本文介绍了一项基于风险的乳腺癌筛查创新临床试验的人种学 ELSI(伦理、法律、社会影响)研究结果,该试验利用基因组学对风险进行分层,并根据评估的风险推荐相应的乳腺癌筛查。我们认为,该试验展示了个性化医疗的美好理想与在人群中实施风险分层治疗的现实之间的根本矛盾。我们研究了筛查任务审查委员会的发展,以应对这一矛盾,该委员会允许临床研究人员就 "精准人群筛查 "的内在矛盾进行协商,但从未完全解决这一矛盾。
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引用次数: 0
The Challenge of Recruiting Diverse Populations into Health Research: An embedded social science perspective. 招募不同人群进入健康研究的挑战:一个嵌入的社会科学视角。
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2022-01-01 DOI: 10.1080/14636778.2022.2115349
Simon M Outram, Sara L Ackerman, Matthew Norstad, Barbara Koenig

Addressing health disparities has become a central remit for conducting health research. In the following paper, we explore the conceptual and methodological challenges posed by the call to recruit medically underserved populations. This exploration of challenges is undertaken from the perspective of social science researchers embedded in a large within a clinical genomics research study. We suggest that these challenges are found in respect to the development of recruiting strategies, analysis of the data in respect to understanding and interpreting the experiences of being medically underserved, and in comparing the experiences of being medically underserved compared to not being underserved. By way of conclusion, it is argued that there is important role for social scientists with large health research studies which, if achieved successfully, can benefit study teams and society as a whole.

消除卫生差距已成为开展卫生研究的一项核心任务。在下面的论文中,我们探讨了呼吁招募医疗服务不足人群所带来的概念和方法挑战。这种挑战的探索是从嵌入在一个大型临床基因组学研究中的社会科学研究人员的角度进行的。我们认为,这些挑战存在于招聘战略的制定、有关理解和解释医疗服务不足经验的数据分析,以及比较医疗服务不足与医疗服务不足经验方面。综上所述,有人认为社会科学家在大型健康研究中扮演着重要的角色,如果成功的话,可以使研究团队和整个社会受益。
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引用次数: 1
Promising precision medicine: how patients, clinicians and caregivers work to realize the potential of genomics-informed cancer care 前景光明的精准医疗:患者、临床医生和护理人员如何努力实现基因组学信息癌症治疗的潜力
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-12-11 DOI: 10.1080/14636778.2021.1997577
Sara L. Ackerman
This paper examines the emerging field of molecular oncology, in which targeted treatments are sought for patients who have exhausted standard cancer therapies. Drawing on an ethnographic study at a U.S. academic medical center, and building on recent theoretical work examining potentiality as a site where expectations, meaning and value are produced, I describe efforts to translate genetic information into extended life for patients. Clinicians, patients and families performed various types of largely-unrecognized labor that invested precision medicine with potential even when life-prolonging therapies remained elusive. Their future-making work was enabled and constrained by the structural conditions of U.S. health care. In this context potentiality was a generative force that was harnessed to the interests and inequities of a market-driven health system, raising important questions about who is able to participate in, contribute to, and benefit from emerging innovations and narratives of hope.
本文探讨了分子肿瘤学的新兴领域,其中有针对性的治疗寻求患者谁已经用尽标准的癌症治疗。根据美国学术医疗中心的一项人种学研究,并以最近的理论工作为基础,研究潜力作为产生期望、意义和价值的场所,我描述了将遗传信息转化为延长患者寿命的努力。临床医生、患者和家属进行了各种基本上未被认识到的劳动,即使在延长生命的疗法仍然难以捉摸的情况下,这些劳动也为精准医疗带来了潜力。他们创造未来的工作受到美国医疗保健结构条件的支持和限制。在这种情况下,潜力是一种生发力量,被利用于市场驱动的卫生系统的利益和不公平,提出了关于谁能够参与、促进和受益于新出现的创新和希望叙述的重要问题。
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引用次数: 4
Bio-imperialism. Disease, terror and the construction of national fragility Bio-imperialism。疾病、恐怖和国家脆弱性的构建
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-12-11 DOI: 10.1080/14636778.2021.1997579
John Harrington
and on the injustices and asymmetries of global health security. Completed before the onset of pertinent history of the pandemic present, furnishing points against which to understand and judge global and health over acute critique biodefence strategies, both domestic and international, through four nely worked case studies from the twenty years following the terrorist atrocities and the anthrax attacks which followed them soon after, formed the linchpin for new iteration American
以及全球卫生安全的不公正和不对称。在当前流行病的相关历史开始之前完成,通过对恐怖主义暴行和炭疽袭击之后20年的四个新案例研究,提供了理解和判断全球和健康的要点,而不是国内和国际的尖锐批评生物防御战略,形成了新一代美国人的关键
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引用次数: 0
“Donating with eyes shut”: attitudes regarding DNA donation to a large-scale biobank in Israel “闭着眼睛捐献”:对向以色列大型生物银行捐献DNA的态度
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-12-03 DOI: 10.1080/14636778.2021.2007066
Aviad E. Raz, Yael Hashiloni-Dolev
DNA collection raises ethical, legal, and social issues around privacy, consent, participatory science, benefits and risks, biodata governance, and, ultimately, trust. While there is a consensus that DNA biobanks’ success depends on public trust, more evidence is needed regarding the determinants, production, and preservation of such trust. We draw on 14 semi-structured interviews with participants – seven people who donated DNA to an Israeli biobank, and seven who refused to donate; as well as on two focus groups with members of the general public. Our findings call into question the relationship between trust/trustworthiness and donation, suggesting moral strategies termed by respondents as “donating with eyes shut.” We conclude by discussing how DNA donation is built on a mixture of attitudes combining criticism, optimism, resistance, and avoiding responsibility as a pragmatic solution to the unresolved conflicts in sharing one’s DNA.
DNA收集引发了关于隐私、同意、参与性科学、利益和风险、生物数据治理以及最终信任的伦理、法律和社会问题。虽然人们一致认为DNA生物库的成功取决于公众的信任,但需要更多的证据来证明这种信任的决定因素、产生和维护。我们对参与者进行了14次半结构化访谈,其中7人向以色列生物银行捐赠了DNA, 7人拒绝捐赠;以及两个针对公众的焦点小组。我们的研究结果对信任/可信度与捐赠之间的关系提出了质疑,提出了被受访者称为“闭着眼睛捐赠”的道德策略。最后,我们讨论了DNA捐赠是如何建立在批评、乐观、抵制和逃避责任的混合态度之上的,作为一种务实的解决方案,以解决共享DNA时未解决的冲突。
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引用次数: 3
Editorial: themed issue: understanding the technical and social landscape of gene editing 社论:主题问题:理解基因编辑的技术和社会景观
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-10-02 DOI: 10.1080/14636778.2021.2004032
R. Dimond, Jamie Lewis, Gareth Thomas
This 2021 themed issue is an acknowledgement of the emergence and significance of gene editing technology, which has already been described as contributing to a new era in human history, that is, as a revolution, a game-changer, and a disruptive technology. Gene editing has proved to be an inexpensive, expeditious, and effective technique that can target and edit (by deleting, adding, or otherwise modifying) genetic material. As such, it has broad applicability in the clinical, agricultural, and industrial arenas, while it has also proven popular in less formal settings such as for “biohacking” techniques (DIY biology). Our focus in this themed issue is the relevance of gene editing for human health. Somatic gene editing has already proved successful and is contributing to the development of therapeutic benefits for some types of childhood blindness, spinal muscular atrophy, and sickle cell disease (Ledford, 2020). Reproductive (germline) gene editing is more controversial, and there has been increasing concern about the rapid pace of development. Concerns about risk include the introduction of unintended genetic changes (known as “off target” effects), which would be irrevocable and irreversible, meaning that there are significant “known unknowns” about the long-term health implications for the child. New Genetics and Society has a long history in documenting the emergence of new technologies and the ensuing debates (see, for example, Parry (2003), Haddow et al. (2010) and Sleeboom-Faulkner et al. (2011), to name a few). Many authors continue to debate the risks and benefits of gene editing, following a familiar path of assessing new technologies in terms of their safety, ethics, and public opinion (Martin et al. 2020, So et al. 2021). The UK, in particular, employs a closely regulated yet liberal approach to supporting new reproductive technologies and, in February 2016, Kathy Niakan (Francis Crick, UK) became the New Genetics and Society, 2021 Vol. 40, No. 4, 361–366, https://doi.org/10.1080/14636778.2021.2004032
这期2021年主题特刊是对基因编辑技术的出现和重要性的认可,基因编辑技术已经被描述为人类历史上一个新时代的贡献,即一场革命,一项改变游戏规则的技术,一项颠覆性技术。基因编辑已被证明是一种廉价、快速和有效的技术,可以针对和编辑(通过删除、添加或以其他方式修改)遗传物质。因此,它在临床,农业和工业领域具有广泛的适用性,同时它也被证明在不太正式的环境中很受欢迎,例如“生物黑客”技术(DIY生物学)。我们在这个主题问题上的重点是基因编辑与人类健康的相关性。体细胞基因编辑已经被证明是成功的,并有助于开发某些类型的儿童失明、脊髓性肌萎缩症和镰状细胞病的治疗益处(Ledford, 2020)。生殖(种系)基因编辑更具争议性,人们对其快速发展的担忧日益增加。对风险的担忧包括引入意想不到的基因变化(称为“脱靶”效应),这将是不可撤销和不可逆转的,这意味着对儿童的长期健康影响存在重大的“已知未知”。《新遗传学与社会》在记录新技术的出现和随之而来的争论方面有着悠久的历史(例如,参见Parry(2003)、Haddow等人(2010)和sleboom - faulkner等人(2011)等)。许多作者继续讨论基因编辑的风险和益处,遵循熟悉的从安全性、伦理和公众舆论方面评估新技术的路径(Martin et al. 2020, So et al. 2021)。特别是英国,采用严格监管但自由的方法来支持新的生殖技术,2016年2月,Kathy Niakan (Francis Crick,英国)成为《新遗传学与社会》,2021年第40卷,第4期,361-366,https://doi.org/10.1080/14636778.2021.2004032
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引用次数: 2
“It didn’t mean anything” – moving within a landscape of knowledge to interpret genetics and genetic test results within familial cancer concerns “这没有任何意义”——在对基因和基因检测结果进行解读的知识背景下,从家族癌症的角度出发
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-10-02 DOI: 10.1080/14636778.2021.1997575
Mavis Machirori, C. Patch, A. Metcalfe
Genetics is increasingly defining how we understand health and disease, affecting for some, their understanding of inherited disease, and the meaning of medical genetic information. When interpretations of hereditary conditions are determined, partly, by one’s familial experience of heritable characteristics and partly by various other lived experiences, the meaning of genetics becomes highly personal. Through descriptions of stocks of knowledge, this paper describes findings from a qualitative study with a cohort of Black and Asian women with family and personal histories of cancer, about their interpretations of their genetic tests. We describe their interpretations as shaped by different experiences of biomedical practice as well as familial experiences of cancer and genetic testing; and we introduce a metaphor of “moving within a landscape,” to show how those interpretations were created and influenced by various sources of knowledge and life experiences.
遗传学越来越多地决定着我们如何理解健康和疾病,对一些人来说,影响着他们对遗传疾病的理解,以及医学遗传信息的含义。当对遗传条件的解释部分取决于一个人对遗传特征的家族经历,部分取决于其他各种生活经历时,遗传学的意义就变得非常个人化了。通过对知识储备的描述,本文描述了一项定性研究的结果,该研究对一群有家庭和个人癌症病史的黑人和亚洲妇女进行了研究,了解她们对基因测试的解释。我们将他们的解释描述为生物医学实践的不同经历以及癌症和基因检测的家庭经历;我们引入了一个“在景观中移动”的比喻,来展示这些解释是如何被各种知识和生活经验所创造和影响的。
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引用次数: 1
The omics of our lives: practices and policies of direct-to-consumer epigenetic and microbiomic testing companies 我们生活的组学:直接面向消费者的表观遗传和微生物检测公司的实践和政策
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-10-02 DOI: 10.1080/14636778.2021.1997576
Terese Knoppers, Elisabeth Beauchamp, K. Dewar, S. Kimmins, G. Bourque, Y. Joly, C. Dupras
While much attention has gone towards ethical, legal, and social implications of direct-to-consumer genetic testing over the past decades, the rise of new forms of consumer omics has largely escaped scrutiny. In this paper, we analyze the product descriptions, promotional messages, terms of service, and privacy policies of five epigenetic and seven microbiomic testing companies. The advent of such tests online represents a significant shift in consumer omics, from a focus on inherited molecules with genetic tests, to broader interest for information about the lives of individuals, such as chronological and biological age, exposures, and lifestyle. Building on previous literature about direct-to-consumer genetic testing, and taking this shift into account, we identify limitations, gaps and inconsistencies in current practices and policies of the new companies. Best practice standards and regulations applicable across different omic sample and data types is a necessary first step in the promotion of responsible consumer omics.
在过去的几十年里,人们对直接面向消费者的基因检测的伦理、法律和社会影响给予了很多关注,但新形式的消费者组学的兴起却在很大程度上躲过了审查。本文分析了5家表观遗传学检测公司和7家微生物学检测公司的产品描述、促销信息、服务条款和隐私政策。这种在线测试的出现代表了消费者组学的一个重大转变,从关注遗传分子的基因测试,到对个人生活信息的更广泛兴趣,如实际和生物年龄、暴露和生活方式。基于先前关于直接面向消费者的基因检测的文献,并考虑到这一转变,我们确定了新公司当前实践和政策中的局限性、差距和不一致之处。适用于不同组学样本和数据类型的最佳实践标准和法规是促进负责任的消费者组学的必要的第一步。
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引用次数: 4
The rise of the biocyborg: synthetic biology, artificial chimerism and human enhancement 生物半机械人的兴起:合成生物学、人工嵌合和人类增强
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-10-02 DOI: 10.1080/14636778.2021.2007064
L. Pio-Lopez
Applying technologies into the human body makes a hybrid human/machine: a cyborg. We identified four types of cyborgs in the literature: the original cyborg, enhanced temporarily for space exploration, the science-fiction cyborg, the “Haraway cyborg” used to critic the dualisms and the “everyday cyborg” who became one by necessity, and learns to live with the implanted technologies. We propose in this article a fifth version: the biocyborg. Such a cyborg presents a new kind of hybridity that we named artificial chimerism, it leads to a multi-scale non-Darwinian evolution and the willingness to become a biocyborg is not only driven by necessity but also by the desire to be enhanced and to push the physiological boundaries of the human body. Becoming a biocyborg comes with new vulnerabilities as any embodied technologies but the associated risk is multi-level and also concerns the human species.
将技术应用于人体,就会产生一种人与机器的混合体:半机械人。我们在文献中确定了四种类型的电子人:原始的电子人,为了太空探索而暂时增强,科幻小说中的电子人,用来批评二元论的“哈拉威电子人”和“日常电子人”,他们必须成为一个电子人,并学会与植入的技术一起生活。我们在这篇文章中提出了第五个版本:生物半机械人。这样的半机械人呈现出一种新的杂交,我们称之为人工嵌合,它导致了一种多尺度的非达尔文进化,成为一个生物半机械人的意愿不仅是由必要性驱动的,也是由渴望增强和推动人体生理界限的愿望驱动的。与任何具体化的技术一样,成为一个生物半机械人也会带来新的脆弱性,但相关的风险是多层次的,也涉及到人类物种。
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引用次数: 6
Many thanks for New Genetics and Society reviewers 非常感谢新遗传学和社会评论家
IF 1.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2021-10-02 DOI: 10.1080/14636778.2021.2009262
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引用次数: 0
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