The Inclusion of Underrepresented Populations in Cardiovascular Genetics and Epidemiology

Elias Chappell, Laura Arbour, Zachary Laksman
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Abstract

Novel genetic risk markers have helped us to advance the field of cardiovascular epidemiology and refine our current understanding and risk stratification paradigms. The discovery and analysis of variants can help us to tailor prognostication and management. However, populations underrepresented in cardiovascular epidemiology and cardiogenetics research may experience inequities in care if prediction tools are not applicable to them clinically. Therefore, the purpose of this article is to outline the barriers that underrepresented populations can face in participating in genetics research, to describe the current efforts to diversify cardiogenetics research, and to outline strategies that researchers in cardiovascular epidemiology can implement to include underrepresented populations. Mistrust, a lack of diverse research teams, the improper use of sensitive biodata, and the constraints of genetic analyses are all barriers for including diverse populations in genetics studies. The current work is beginning to address the paucity of ethnically diverse genetics research and has already begun to shed light on the potential benefits of including underrepresented and diverse populations. Reducing barriers for individuals, utilizing community-driven research processes, adopting novel recruitment strategies, and pushing for organizational support for diverse genetics research are key steps that clinicians and researchers can take to develop equitable risk stratification tools and improve patient care.
将代表性不足的人群纳入心血管遗传学和流行病学领域
新的遗传风险标记有助于我们推动心血管流行病学领域的发展,完善我们目前的认识和风险分层范例。变异基因的发现和分析有助于我们对预后和管理进行调整。然而,在心血管流行病学和心脏遗传学研究中代表性不足的人群,如果预测工具不适用于他们的临床,可能会在治疗中遭遇不公平。因此,本文旨在概述代表性不足的人群在参与遗传学研究时可能面临的障碍,介绍目前为实现心脏遗传学研究多样化所做的努力,并概述心血管流行病学研究人员为将代表性不足的人群纳入研究范围可采取的策略。不信任、缺乏多元化的研究团队、敏感生物数据的不当使用以及基因分析的局限性都是将不同人群纳入遗传学研究的障碍。目前的工作正着手解决种族多元化遗传学研究不足的问题,并已开始揭示将代表性不足的多元化人群纳入研究的潜在益处。减少个人面临的障碍、利用社区驱动的研究流程、采取新颖的招募策略以及推动组织机构支持多元化遗传学研究,是临床医生和研究人员开发公平风险分层工具和改善患者护理的关键步骤。
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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