简介:遗产非洲裔美国人的基因组研究在西方科学中有着错综复杂的历史。在这篇综述论文中,解决了影响非裔美国人基因组研究的核心问题,并进行了两个案例研究,纽约非洲墓地和GullahGeechee人民,介绍了非洲裔美国人基因组研究的现状。方法:调查我们的目标人群的核心问题,审查了来自22个可公开访问的数据库的元数据库,评估,并进行了综合,以确定在非裔美国人在北美存在的几个世纪中普遍存在的核心生物伦理问题。元数据库开发的顺序包括5个步骤:识别信息,记录筛选和保留主题相关信息,通过概念识别的综合资格识别,并纳入用于概念摘要的研究和用于遗传和基因组摘要的研究。在这些数据中,我们添加了我们的观点和案例研究的具体见解。结果:总体而言,关于代表性不足的非裔美国人基因组多样性的现有研究很少。在每个类别的基因组测试中(即,诊断,临床预测,药物基因组学,直接面向消费者,和肿瘤测试),与欧洲裔美国人相比,非洲裔美国人的代表性不足。我们的第一个案例研究来自纽约非洲墓地项目,该项目对土壤来源的aDNA进行基因组研究,以深入了解17世纪和18世纪非洲裔美国人的死亡原因。在我们的第二个案例研究中,在卡罗来纳州低国家的GullahGeechee人群中进行的研究揭示了基因组研究与健康差异之间的联系。讨论:非洲裔美国人历史上首当其冲的最早的生物医学研究用于产生和完善在遗传学的原始概念。作为被剥削的受害者,这些调查,非洲裔美国人,女人,孩子们接受了没有伦理的西方科学。既然已经增加了生物伦理保障措施,代表性不足和边缘化的人曾经是西方科学的便利目标,现在被排除在与健康相关的福利之外。加强将非裔美国人纳入全球基因组数据库和临床试验的建议应包括以下内容:强调纳入与精准医学进步的联系,强调包容与人类进化生物学中基本问题的相关性,强调包容对传统非裔美国人的历史意义,强调包容性的能力,以促进目标人群中扩大的科学专业知识,与他们的后代进行道德接触,并增加来自这些社区的科学研究人员的数量。
Introduction: Genomic studies of Legacy African Americans have a tangled and convoluted history in western science. In this review paper, core issues affecting African American genomic studies are addressed and two
case studies, the New York African Burial Ground and the Gullah Geechee peoples, are presented to highlight the current status of genomic research among Africa Americans. Methods: To investigate our target population\'s core issues, a metadatabase derived from 22 publicly accessible databases were reviewed, evaluated, and synthesized to identify the core bioethical issues prevalent during the centuries of the African American presence in North America. The sequence of metadatabase development included 5 steps: identification of information, record screening and retention of topic relevant information, identification of eligibility via synthesis for concept identifications, and inclusion of studies used for conceptual summaries and studies used for genetic and genomic summaries. To these data we added our emic perspectives and specific insights from our
case studies. Results: Overall, there is a paucity of existing research on underrepresent African American genomic diversity. In every category of genomic testing (i.e., diagnostic, clinical predictive, pharmacogenomic, direct-to-consumer, and tumor testing), African Americans are disproportionately underrepresented compared to European Americans. The first of our
case studies is from the New York African Burial Ground Project where genomic studies of grave soil derived aDNA yields insights into the causes of death of 17th and 18th Century African Americans. In the second of our
case studies, research among the Gullah Geechee people of the Carolina Lowcountry reveals a connection between genomic studies and health disparities. Discussion: African Americans have historically borne the brunt of the earliest biomedical studies used to generate and refine primitive concepts in genetics. As exploited victims these investigations, African American men, women, and children were subjected to an ethics-free western science. Now that bioethical safeguards have been added, underrepresented and marginalized people who were once the convenient targets of western science, are now excluded from its health-related benefits. Recommendations to enhance the inclusion of African Americans in global genomic databases and clinical trials should include the following: emphasis on the connection of inclusion to advances in precision medicine, emphasis on the relevance of inclusion to fundamental questions in human evolutionary biology, emphasis on the historical relevance of inclusion for Legacy African Americans, emphasis on the ability of inclusion to foster expanded scientific expertise in the target population, ethical engagement with their descendants, and increase the number of science researchers from these communities.