Ali-Khan Sarah E, Krakowski Tomasz, Tahir Rabia, Daar Abdallah S
Hugo J. 2011 Dec;5(1-4):47-63. doi: 10.1007/s11568-011-9154-5. Epub 2011 Jul 7.
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.
人类基因组计划之后取得的进展催生了新一轮群体遗传学研究，同时也加剧了在这项工作中使用种族/族裔分类所引发的争议。与此同时，推断遗传血统方法的发展提供了更多用于指定群体标签的实证手段。在此，我们对当前遗传学研究中种族/族裔和血统的使用情况进行了系统分析。我们的分析基于已发表的关于种族/族裔使用和报告的关键建议，这些建议建议研究人员：解释使用这些术语/类别的原因以及它们是如何衡量的，仔细定义它们，并始终如一地应用它们。我们研究了2008 - 2009年发表在高影响力期刊上的170篇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，获得了一个比较视角。我们的分析表明，随着时间的推移，在遵循一些关于种族/族裔使用的建议/指南方面有了显著进步，但也表明仍存在重要不足：没有一篇使用“种族”“族裔”或“血统”的文章在文中定义或讨论这些概念的含义；三分之一的文章仍然没有为其使用提供理由，其中使用“血统”的文章最不可能这样做。此外，没有一篇文章讨论所报告研究的潜在社会伦理影响。因此，向全球遗传学/基因组学界强调对人类群体进行一致和全面报告的重要性、制定关于血统和遗传血统使用的明确指南，以及重要的是确保遵循这些指南，仍然是当务之急。
