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个人基因组学与个体身份:早期用户的动机与道德要求

Personal genomics and individual identities: motivations and moral imperatives of early users.

作者信息

McGowan Michelle L, Fishman Jennifer R, Lambrix Marcie A

机构信息

Department of Bioethics, Case Western Reserve University, Cleveland, US.

出版信息

New Genet Soc. 2010 Sep 1;29(3):261-290. doi: 10.1080/14636778.2010.507485.

DOI:10.1080/14636778.2010.507485
PMID:21076647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2976061/
Abstract

Since 2007, consumer genomics companies have marketed personal genome scanning services to assess users' genetic predispositions to a variety of complex diseases and traits. This study investigates early users' reasons for utilizing personal genome services, their evaluation of the technology, how they interpret the results, and how they incorporate the results into health-related decision-making. The analysis contextualizes early users' relationships to the technology, the knowledge generated by it, and how it mediates their relationship to their own health and to biomedicine more broadly. The results reveal that early users approach personal genome scanning with both optimism for genomic research and scepticism about the technology's current capabilities, which runs contrary to concerns that consumers may be ill equipped to interpret and understand genome scan results. These findings provide important qualitative insight into early users' conceptualizations of personal genomic risk assessment and illuminate their involvement in configuring this technology in the making.

摘要

自2007年以来,消费级基因公司一直在推广个人基因组扫描服务,以评估用户对多种复杂疾病和性状的遗传易感性。本研究调查了早期用户使用个人基因组服务的原因、他们对该技术的评价、他们如何解读结果,以及他们如何将结果纳入与健康相关的决策中。该分析将早期用户与该技术的关系、由该技术产生的知识,以及它如何更广泛地调节他们与自身健康和生物医学的关系进行了情境化。结果显示,早期用户对基因组研究持乐观态度,但对该技术目前的能力持怀疑态度,这与消费者可能缺乏解读和理解基因组扫描结果的能力的担忧相反。这些发现为早期用户对个人基因组风险评估的概念化提供了重要的定性见解,并阐明了他们在塑造这项技术过程中的参与情况。

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本文引用的文献

1
Comparison of genotyping using pooled DNA samples (allelotyping) and individual genotyping using the affymetrix genome-wide human SNP array 6.0.使用汇集 DNA 样本(等位基因分型)和使用 Affymetrix 全基因组人类 SNP 阵列 6.0 进行个体基因分型的比较。
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An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons.直接面向消费者的个人基因组检测的一个不良副作用:侵占医疗公共资源。
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