Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course.
Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course.
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将种族和血统混合在一起：关于人群描述符在精密医学研究生活课程上的决策点。
DOI：
10.1016/j.xhgg.2023.100243
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发表时间：
2024-01-11
期刊：
影响因子：
--
通讯作者：
Lee, Sandra Soo-Jin
中科院分区：
文献类型：
--
作者：
Bentz, Michael;Saperstein, Aliya;Fullerton, Stephanie M.;Shim, Janet K.;Lee, Sandra Soo-Jin
为了响应人类基因组学不再使用种族的呼吁，基因组学研究人员正在联合使用遗传祖先的可能性。这一转变重新提出了关于在精准医学研究（PMR）中使用社会和遗传差异概念的问题。从五个PMR项目的定性数据中，我们说明了研究团队内部和之间的谈判，因为基因组研究人员在不同的分析和背景下考虑种族和遗传祖先的相关性。我们强调社会和遗传差异的概念是如何嵌入并贯穿研究实践的，并确定了研究生命过程中的多个点，在这些点上，种族和遗传祖先之间发生了概念上的滑动和混淆。我们认为，超越种族将需要PMR调查人员面对根深蒂固的方式，种族是建立在研究实践和生物医学基础设施。只有通过面对关于人类基本差异的信念长期以来一直嵌入到整个精准医学研究生命过程的实践中，才能实现“超越”种族和/或民族的运动。研究基础设施对人口描述符的选择所施加的限制，研究人员个人或甚至研究小组都不容易克服，需要在机构一级进行协调改革才能解决。
Responding to calls for human genomics to shift away from the use of race, genomic investigators are coalescing around the possibility of using genetic ancestry. This shift has renewed questions about the use of social and genetic concepts of difference in precision medicine research (PMR). Drawing from qualitative data on five PMR projects, we illustrate negotiations within and between research teams as genomic investigators deliberate on the relevance of race and genetic ancestry for different analyses and contexts. We highlight how concepts of both social and genetic difference are embedded within and travel through research practices, and identify multiple points across the research life course at which conceptual slippage and conflation between race and genetic ancestry occur. We argue that moving beyond race will require PMR investigators to confront the entrenched ways in which race is built into research practices and biomedical infrastructures. Movement “beyond” race and/or ethnicity can occur only by confronting how beliefs about fundamental human differences have long been embedded in practices across the precision medicine research life course. The constraints research infrastructures impose on the choice of population descriptors are not easily overcome by individual researchers or even research teams and will require coordinated change at the institutional level to address.
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影响因子：
64.8
作者：
Green ED;Gunter C;Biesecker LG;Di Francesco V;Easter CL;Feingold EA;Felsenfeld AL;Kaufman DJ;Ostrander EA;Pavan WJ;Phillippy AM;Wise AL;Dayal JG;Kish BJ;Mandich A;Wellington CR;Wetterstrand KA;Bates SA;Leja D;Vasquez S;Gahl WA;Graham BJ;Kastner DL;Liu P;Rodriguez LL;Solomon BD;Bonham VL;Brody LC;Hutter CM;Manolio TA
通讯作者：
Manolio TA
影响因子：
15.8
作者：
Braun, Lundy;Fausto-Sterling, Anne;Shields, Alexandra E.
通讯作者：
Shields, Alexandra E.
影响因子：
4.1
作者：
Hunt, L. M.;Megyesi, M. S.
通讯作者：
Megyesi, M. S.
影响因子：
12.3
作者：
Lewis ACF;Green RC
通讯作者：
Green RC
影响因子：
--
作者：
Nelson, Sarah C;Yu, Joon-Ho;Bamshad, Michael J
通讯作者：
Bamshad, Michael J