Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association.
Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association.
复制标题
边缘化种族和民族群体以及土著人民心血管遗传学和基因组研究的考虑因素：美国心脏协会的科学声明。
DOI：
10.1161/hcg.0000000000000084
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
V. Cameron
中科院分区：
文献类型：
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作者：
G. Mudd;Allison L. Cirino;Veronica Barcelona;Keolu Fox;M. Hudson;Yan V. Sun;Jacquelyn Y. Taylor;V. Cameron
历史上被边缘化的种族和族裔群体和土著人民背负着严重的健康不平等的负担，而他们在遗传和基因组研究中的代表性不足更是雪上加霜。在所有全基因组协会的研究参与者中，≈有79%是欧洲后裔，尽管这一群体只占全球人口的16%。对于代表性不足的人群，从这些研究中得出的多基因风险分数在预测疾病表型方面不太准确，新的人群特有的基因变异可能被错误地归类为潜在致病，并且缺乏对不同人群如何代谢药物的了解。虽然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，但科学研究必须遵循尊重、诚实、正义、互惠和关心个人和社区的伦理原则。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，与社区领导人和机构合作可以成功实施这项研究。在整个研究过程中，必须考虑以下问题：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，以及社区认同对数据治理和共享的影响。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，对这些问题的关注至关重要。在伦理原则的指导下，与土著人民和边缘化群体合作开展遗传和基因组研究，为科学进步提供了一条途径，这将加强每个人对心血管疾病的预防和治疗。
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.