The use of race, ethnicity and ancestry in human genetic research.
The use of race, ethnicity and ancestry in human genetic research.
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DOI：
10.1007/s11568-011-9154-5
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发表时间：
2011-12
期刊：
影响因子：
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通讯作者：
Daar, Abdallah S
中科院分区：
文献类型：
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作者：
Ali-Khan, Sarah E;Krakowski, Tomasz;Tahir, Rabia;Daar, Abdallah S
后人类基因组计划的进展使新一波的人口遗传学研究成为可能，并加剧了在这项工作中使用种族/民族的争议。与此同时，推断遗传祖先的方法的发展为分配群体标签提供了更多的经验手段。在这里，我们提供了一个系统的分析使用种族/民族和血统在当前的遗传研究。我们的分析基于已发表的关于使用和报告种族/民族的关键建议，这些建议建议研究人员：解释为什么使用这些术语/类别以及如何测量它们，仔细定义它们，并始终如一地应用它们。我们研究了2008-2009年发表的170篇高影响力期刊上的群体遗传学研究文章。通过将研究指标与2001-2004年发表的文章中的类似研究进行比对，获得了比较视角。我们的分析表明，随着时间的推移，在遵守一些关于使用种族/民族的建议/指南方面有了明显的改善，同时也表明仍然存在重要的不足：没有一篇使用“种族”，“民族”或“祖先”的文章定义或讨论了这些概念的含义;三分之一的文章仍然没有提供使用它们的理由，那些使用“祖先”的文章最不可能这样做。此外，没有一篇文章讨论了所报告研究的潜在社会伦理影响。因此，仍然有一个明确的当务之急，强调一致和全面的人口报告的遗传学/基因组学界在全球的重要性，制定明确的指导方针，使用祖先和遗传祖先，并重要的是，以确保这些指导方针得到遵守。
Post-Human Genome Project progress has enabled a new wave of population genetic research, and intensified controversy over the use of race/ethnicity in this work. At the same time, the development of methods for inferring genetic ancestry offers more empirical means of assigning group labels. Here, we provide a systematic analysis of the use of race/ethnicity and ancestry in current genetic research. We base our analysis on key published recommendations for the use and reporting of race/ethnicity which advise that researchers: explain why the terms/categories were used and how they were measured, carefully define them, and apply them consistently. We studied 170 population genetic research articles from high impact journals, published 2008–2009. A comparative perspective was obtained by aligning study metrics with similar research from articles published 2001–2004. Our analysis indicates a marked improvement in compliance with some of the recommendations/guidelines for the use of race/ethnicity over time, while showing that important shortfalls still remain: no article using ‘race’, ‘ethnicity’ or ‘ancestry’ defined or discussed the meaning of these concepts in context; a third of articles still do not provide a rationale for their use, with those using ‘ancestry’ being the least likely to do so. Further, no article discussed potential socio-ethical implications of the reported research. As such, there remains a clear imperative for highlighting the importance of consistent and comprehensive reporting on human populations to the genetics/genomics community globally, to generate explicit guidelines for the uses of ancestry and genetic ancestry, and importantly, to ensure that guidelines are followed.