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Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association
Circulation: Genomic and Precision Medicine ( IF 6.0 ) Pub Date : 2021-07-26 , DOI: 10.1161/hcg.0000000000000084
Gia Mudd-Martin , Allison L Cirino , Veronica Barcelona , Keolu Fox , Maui Hudson , Yan V Sun , Jacquelyn Y Taylor , Vicky A Cameron ,

Historically marginalized racial and ethnic groups and Indigenous peoples are burdened by significant health inequities that are compounded by their underrepresentation in genetic and genomic research. Of all genome-wide association study participants, ≈79% are of European descent, despite this group constituting only 16% of the global population. For underrepresented populations, polygenic risk scores derived from these studies are less accurate in predicting disease phenotypes, novel population-specific genetic variations may be misclassified as potentially pathogenic, and there is a lack of understanding of how different populations metabolize drugs. Although inclusion of marginalized racial and ethnic groups and Indigenous peoples in genetic and genomic research is crucial, scientific studies must be guided by ethical principles of respect, honesty, justice, reciprocity, and care for individuals and communities. Special considerations are needed to support research that benefits the scientific community as well as Indigenous peoples and marginalized groups. Before a project begins, collaboration with community leaders and agencies can lead to successful implementation of the study. Throughout the study, consideration must be given to issues such as implications of informed consent for individuals and communities, dissemination of findings through scientific and community avenues, and implications of community identity for data governance and sharing. Attention to these issues is critical, given historical harms in biomedical research that marginalized groups and Indigenous peoples have suffered. Conducting genetic and genomic research in partnership with Indigenous peoples and marginalized groups guided by ethical principles provides a pathway for scientific advances that will enhance prevention and treatment of cardiovascular disease for everyone.

中文翻译:

对边缘化种族和民族以及原住民进行心血管遗传和基因组研究的考虑:美国心脏协会的科学声明

历史上被边缘化的种族和族裔群体以及土著人民承受着严重的健康不平等,而他们在基因和基因组研究中的代表性不足则加剧了这种不平等。在所有全基因组关联研究参与者中,≈79% 是欧洲血统,尽管这一群体仅占全球人口的 16%。对于代表性不足的人群,来自这些研究的多基因风险评分在预测疾病表型方面不太准确,新的人群特异性遗传变异可能被错误地归类为潜在致病性,并且缺乏对不同人群如何代谢药物的了解。尽管将边缘化的种族和族裔群体以及土著人民纳入遗传和基因组研究至关重要,但科学研究必须以尊重的伦理原则为指导,诚实、正义、互惠和关心个人和社区。需要特别考虑支持有利于科学界以及土著人民和边缘化群体的研究。在项目开始之前,与社区领袖和机构合作可以成功实施研究。在整个研究过程中,必须考虑诸如知情同意对个人和社区的影响、通过科学和社区途径传播研究结果以及社区身份对数据治理和共享的影响等问题。鉴于边缘化群体和土著人民在生物医学研究中遭受的历史伤害,关注这些问题至关重要。
更新日期:2021-08-17
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