Genomics and Biobank Research for Health Equity

健康公平的基因组学和生物样本库研究

• 批准号: 10261230
• 负责人: Leonardo Marino-Ramirez
• 金额: $ 9.26万
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10261230
• 关键词: Admixture; African; Biomedical Research; Catalogs; Communities; Databases; Disease; Electronic Health Record; Ethnic group; European; Funding; Genes; Genetic; Genetic Variation; Genomics; Goals; Health; Healthcare; Hispanic Americans; Individual; Latin America; Latin American; Maps; Modernization; Native Americans; Non-Insulin-Dependent Diabetes Mellitus; Pattern; Phenotype; Population; Research; Research Project Grants; Sampling Biases; Underrepresented Populations; Underserved Population; Ursidae Family; Variant; biobank; cohort; genetic analysis; genetic architecture; genome wide association study; health disparity; health equity; interest; personalized genomic medicine; personalized health care; tool

Today we are starting to fulfill the promise of genomics for personalized medicine and healthcare. Interestingly, and for a variety of reasons publicly funded databases continue to miss a vast portion of the world's genetic variation . As of January 2018, the GWAS catalog has registered 78% of individuals from European ancestry while underrepresented populations make up less than 4% including African (2.4%), Hispanic or Latin American (1.3%) and Native American (0.03%). The sampling bias is referred to as the genomics research gap and has the potential to exacerbate existing health disparities among underrepresented and underserved populations. Populations underrepresented in Biomedical Research bear a disproportionate burden for many diseases, including diabetes type 2. This is particularly true for Native American communities in the US, who have among the lowest levels of participation in genomic studies seen for any ethnic group. Genomic studies must be more representative of all populations so that all people can benefit from the upcoming genomic revolution in healthcare. We are interested in studying how combinations of genetic ancestry in admixed Latin American populations may impact genomic determinants of health and disease. We have found ancestry-enriched SNPs in Latin American populations having a substantial effect on health- and disease-related phenotypes.

今天，我们开始履行基因组学对个性化医疗和医疗保健的承诺。有趣的是，由于各种原因，公共资助的数据库继续错过世界上很大一部分遗传变异。截至2018年1月，GWAS目录中登记了78%的欧洲血统，而代表性不足的人群占不到4%，包括非洲人（2.4%），西班牙裔或拉丁美洲人（1.3%）和美洲原住民（0.03%）。抽样偏差被称为基因组学研究差距，有可能加剧代表性不足和服务不足的人口之间现有的健康差距。在生物医学研究中代表性不足的人群对许多疾病（包括2型糖尿病）承担了不成比例的负担。对于美国的美洲原住民社区来说尤其如此，他们是所有种族中参与基因组研究的最低水平。基因组研究必须更能代表所有人群，以便所有人都能从即将到来的医疗保健基因组革命中受益。我们有兴趣研究混合拉丁美洲人群的遗传祖先组合如何影响健康和疾病的基因组决定因素。我们发现拉丁美洲人群中祖先富集的SNP对健康和疾病相关表型有重大影响。