Genomics and Biobank Research for Health Equity

今天，我们开始兑现基因组学在个性化医疗和保健方面的承诺。有趣的是，由于各种原因，公共资助的数据库仍然遗漏了世界上很大一部分基因变异。截至2018年1月，GWAS目录登记了78%的欧洲血统个人，而代表性不足的人口所占比例不到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研究差距，有可能加剧代表不足和服务不足的人群中现有的健康差距。生物医学研究中代表性不足的人群在包括2型糖尿病在内的许多疾病上承受着不成比例的负担。美国的美洲原住民社区尤其如此，他们是基因组研究参与率最低的种族之一。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。我们感兴趣的是研究拉丁美洲混血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。我们在拉丁美洲人群中发现了血统丰富的SNPs，它对健康和疾病相关的表型有很大影响。

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.