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基因组研究中的多样性与包容性:为何进展参差不齐?

Diversity and inclusion in genomic research: why the uneven progress?

作者信息

Bentley Amy R, Callier Shawneequa, Rotimi Charles N

机构信息

Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

出版信息

J Community Genet. 2017 Oct;8(4):255-266. doi: 10.1007/s12687-017-0316-6. Epub 2017 Jul 18.

Abstract

Conducting genomic research in diverse populations has led to numerous advances in our understanding of human history, biology, and health disparities, in addition to discoveries of vital clinical significance. Conducting genomic research in diverse populations is also important in ensuring that the genomic revolution does not exacerbate health disparities by facilitating discoveries that will disproportionately benefit well-represented populations. Despite the general agreement on the need for genomic research in diverse populations in terms of equity and scientific progress, genomic research remains largely focused on populations of European descent. In this article, we describe the rationale for conducting genomic research in diverse populations by reviewing examples of advances facilitated by their inclusion. We also explore some of the factors that perpetuate the disproportionate attention on well-represented populations. Finally, we discuss ongoing efforts to ameliorate this continuing bias. Collaborative and intensive efforts at all levels of research, from the funding of studies to the publication of their findings, will be necessary to ensure that genomic research does not conserve historical inequalities or curtail the contribution that genomics could make to the health of all humanity.

摘要

在不同人群中开展基因组研究,除了带来具有重大临床意义的发现外,还在我们对人类历史、生物学和健康差异的理解方面取得了诸多进展。在不同人群中开展基因组研究对于确保基因组革命不会因促成对代表性较好人群 disproportionately 有利的发现而加剧健康差异也很重要。尽管在公平性和科学进步方面,人们普遍认同在不同人群中开展基因组研究的必要性,但基因组研究在很大程度上仍主要集中于欧洲裔人群。在本文中,我们通过回顾纳入不同人群所促成的进展实例,阐述在不同人群中开展基因组研究的基本原理。我们还探讨了一些导致对代表性较好人群持续给予不成比例关注的因素。最后,我们讨论为改善这种持续存在的偏见而正在进行的努力。从研究资金投入到研究结果发表,在研究各层面开展协作和深入努力,对于确保基因组研究不会延续历史不平等现象或限制基因组学对全人类健康可能做出的贡献而言是必要的。

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