论文标题

注意差距:当我们谈论种族,种族和基因组研究中的种族和血统时,多种族的人如何被抛弃

Mind the gap: how multiracial individuals get left behind when we talk about race, ethnicity, and ancestry in genomic research

论文作者

Martschenko, Daphne O., Wand, Hannah, Young, Jennifer L., Wojcik, Genevieve L.

论文摘要

人们普遍承认,基因组学存在多样性问题,这是由于非欧洲遗传血统人群的巨大代表性不足所致。尽管存在许多挑战以解决这一差距,但主要的复杂因素是(1)社会如何定义和标记个人之间的错位; (2)如何定义研究; (3)如何翻译研究结果以使人类健康受益。最近解决基因组学术语缺乏明确性的对话主要集中在承认遗传血统与种族之间差异的本体论。然而,这些祖先的本体论框架通常遵循人们的主观离散化,并由历史种族类别归一化。这是以牺牲包容性为代价的排除。为了使所有人都可以访问基因组学研究的好处,围绕种族,种族和遗传血统的标准必须故意,明确地解决多种族,遗传混合的个体,这些个人在基因组学和社会中具有分散分类的局限性。从需要澄清术语的需求开始,我们概述了基因组研究和翻译的当前实践,这些实践使那些因未能适应特定垃圾箱而被“归纳”的人失败。最后,我们通过为未来的研究提供具体的解决方案,以便与全人类分享基因组学研究的好处。

It is widely acknowledged that there is a diversity problem in genomics stemming from the vast underrepresentation of non-European genetic ancestry populations. While many challenges exist to address this gap, a major complicating factor is the misalignment between (1) how society defines and labels individuals; (2) how populations are defined for research; and (3) how research findings are translated to benefit human health. Recent conversations to address the lack of clarity in terminology in genomics have largely focused on ontologies that acknowledge the difference between genetic ancestry and race. Yet, these ontological frameworks for ancestry often follow the subjective discretization of people, normalized by historical racial categories; this perpetuates exclusion at the expense of inclusion. In order to make the benefits of genomics research accessible to all, standards around race, ethnicity, and genetic ancestry must deliberately and explicitly address multiracial, genetically admixed individuals who make salient the limitations of discrete categorization in genomics and society. Starting with the need to clarify terminology, we outline current practices in genomic research and translation that fail those who are 'binned' for failing to fit into a specific bin. We conclude by offering concrete solutions for future research in order to share the benefits of genomics research with the full human population.

扫码加入交流群

加入微信交流群

微信交流群二维码

扫码加入学术交流群,获取更多资源