摘要翻译:
在人类基因组学研究中使用和报告种族、族裔和祖先的方式对如何将研究转化为临床护理、纳入公众理解和实施公共政策具有广泛的影响。遗传学研究人员在积极消除种族遗传概念和认识造成健康差异的社会和结构因素方面发挥着重要作用。在这里,我们提供评论和具体建议的使用和报告的种族,族裔,和祖先跨越整个遗传研究领域,包括术语,数据协调,分析和报告。虽然我们作为NHLBI精准医学反向组学(TOPMed)项目的研究人员的经验告诉我们,这些建议广泛适用于不同人群的基础基因组和翻译基因组研究。为了充分认识到使遗传学研究多样化的好处,我们作为遗传学研究人员需要对研究过程和研究社区进行结构性改变。需要作出相当大的合作努力和不断的思考,才能从实地根除种族主义因素,并产生能够产生广泛和公平惠益的科学知识。
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英文标题:
《Recommendations on the use and reporting of race, ethnicity, and
ancestry in genetic research: experiences from the NHLBI Trans-Omics for
Precision Medicine (TOPMed) program》
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作者:
Alyna T. Khan, Stephanie M. Gogarten, Caitlin P. McHugh, Adrienne M.
Stilp, Tamar Sofer, Michael Bowers, Quenna Wong, L. Adrienne Cupples, Bertha
Hidalgo, Andrew D. Johnson, Merry-Lynn McDonald, Stephen T. McGarvey, Matthew
R. G. Taylor, Stephanie M. Fullerton, Matthew P. Conomos, Sarah C. Nelson
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最新提交年份:
2021
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分类信息:
一级分类:Quantitative Biology 数量生物学
二级分类:Other Quantitative Biology 其他定量生物学
分类描述:Work in quantitative biology that does not fit into the other q-bio classifications
不适合其他q-bio分类的定量生物学工作
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英文摘要:
The ways in which race, ethnicity, and ancestry are used and reported in human genomics research has wide-ranging implications for how research is translated into clinical care, incorporated into public understanding, and implemented in public policy. Genetics researchers play an essential role in proactively dismantling genetic conceptions of race and in recognizing the social and structural factors that drive health disparities. Here, we offer commentary and concrete recommendations on the use and reporting of race, ethnicity, and ancestry across the arc of genetic research, including terminology, data harmonization, analysis, and reporting. While informed by our experiences as researchers in the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, the recommendations are broadly applicable to basic and translational genomic research in diverse populations. To fully realize the benefit of diversifying genetics research beyond primarily European ancestry populations, we as genetics researchers need to make structural changes to the research process and within the research community. Considerable collaborative effort and ongoing reflection will be required to root out elements of racism from the field and generate scientific knowledge that yields broad and equitable benefit.
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PDF链接:
https://arxiv.org/pdf/2108.07858