Genomics and Biobank Research for Health Equity

今天，我们开始实现基因组学对个性化医疗和保健的承诺。有趣的是，由于各种各样的原因，公共资助的数据库仍然遗漏了世界上很大一部分的遗传变异。截至2018年1月，GWAS目录已登记了78%的欧洲血统个人，而代表性不足的人口比例不到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%）。这种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人群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包括2型糖尿病在内的许多疾病承担着不成比例的负担。对于美国的印第安人社区来说尤其如此，他们参与基因组研究的程度是所有种族中最低的。基因组研究必须更多地代表所有人群，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混合拉丁美洲人口中遗传祖先的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。

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.