Implications of self-identified race, ethnicity, and genetic ancestry on genetic association studies in biobanks within health systems

Ruth Johnson, Bogdan Pasaniuc
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Abstract

Precision medicine aims to create biomedical solutions tailored to specific factors that affect disease risk and treatment responses within the population. The success of the genomics era and recent widespread availability of electronic health records (EHR) has ushered in a new wave of genomic biobanks connected to EHR databases (EHR-linked biobanks). This perspective aims to discuss how race, ethnicity, and genetic ancestry are currently utilized to study common disease variation through genetic association studies. Although genetic ancestry plays a significant role in shaping the genetic landscape underlying disease risk in humans, the overall risk of a disease is caused by a complex combination of environmental, sociocultural, and genetic factors. When using EHR-linked biobanks to interrogate underlying disease etiology, it is also important to be aware of how the biases associated with commonly used descent-associated concepts such as race and ethnicity can propagate to downstream analyses. We intend for this resource to support researchers who perform or analyze genetic association studies in the EHR-linked biobank setting such as those involved in consortium-wide biobanking efforts. We provide background on how race, ethnicity, and genetic ancestry play a role in current association studies, highlight considerations where there is no consensus about best practices, and provide transparency about the current shortcomings.
自我认定的种族、民族和遗传祖先对卫生系统内生物库遗传关联研究的影响
基因组学时代的成功和最近电子健康记录(EHR)的普及,带来了与 EHR 数据库相连接的基因组生物库(EHR-linked biobanks)的新浪潮。本视角旨在讨论目前如何通过遗传关联研究利用种族、民族和遗传祖先来研究常见疾病的变异。虽然遗传血统在形成人类疾病风险的遗传景观方面起着重要作用,但疾病的总体风险是由环境、社会文化和遗传因素的复杂组合造成的。在使用与电子病历相关联的生物库研究潜在的疾病病因学时,同样重要的是要意识到与常用的世系相关概念(如种族和民族)相关的偏差会如何传播到下游分析中。我们希望该资源能为那些在与电子病历相关的生物库中进行或分析遗传关联研究的研究人员提供支持,例如那些参与全联盟生物库工作的研究人员。我们将提供有关种族、民族和遗传祖先如何在当前关联研究中发挥作用的背景资料,强调在最佳实践方面尚未达成共识的注意事项,并提供有关当前趋势的透明度。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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