Research to understand human genomic variation and its implications in health has great potential to contribute in the reduction of health disparities. Biological anthropology can play important roles in genomics and health disparities research using a biocultural approach. This paper argues that racial/ethnic categories should not be used as a surrogate for sociocultural factors or global genomic clusters in biomedical research or clinical settings, because of the high genetic heterogeneity that exists within traditional racial/ethnic groups. Genetic ancestry is used to show variation in ancestral genomic contributions to recently admixed populations in the United States, such as African Americans and Hispanic/Latino Americans. Genetic ancestry estimates are also used to examine the relationship between ancestry-related biological and sociocultural factors affecting health disparities. To localize areas of genomes that contribute to health disparities, admixture mapping and genome-wide association studies (GWAS) are often used. Recent GWAS have identified many genetic variants that are highly differentiated among human populations that are associated with disease risk. Some of these are population-specific variants. Many of these variants may impact disease risk and help explain a portion of the difference in disease burden among racial/ethnic groups. Genetic ancestry is also of particular interest in precision medicine and disparities in drug efficacy and outcomes. By using genetic ancestry, we can learn about potential biological differences that may contribute to the heterogeneity observed across self-reported racial groups.

中文翻译：

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利用遗传血统研究健康差异


了解人类基因组变异及其对健康的影响的研究对于减少健康差异具有巨大的潜力。生物人类学可以利用生物文化方法在基因组学和健康差异研究中发挥重要作用。本文认为，由于传统种族/民族群体中存在高度遗传异质性，种族/民族类别不应在生物医学研究或临床环境中用作社会文化因素或全球基因组簇的替代。遗传祖先用于显示祖先基因组对美国最近混合的人群（例如非洲裔美国人和西班牙裔/拉丁美洲裔美国人）的贡献的变化。遗传血统估计也用于检查影响健康差异的血统相关生物和社会文化因素之间的关系。为了定位导致健康差异的基因组区域，经常使用混合图谱和全基因组关联研究（GWAS）。最近的 GWAS 发现了许多与疾病风险相关的人群之间高度分化的遗传变异。其中一些是特定于人群的变体。其中许多变异可能会影响疾病风险，并有助于解释种族/族裔群体之间疾病负担的部分差异。遗传血统在精准医学以及药物功效和结果的差异方面也特别令人感兴趣。通过使用遗传血统，我们可以了解潜在的生物学差异，这些差异可能导致在自我报告的种族群体中观察到的异质性。