The African Computational Genomics (TACG) Research Group, MRC/UVRI and LSHTM, Entebbe, Uganda.
The Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
Nat Med. 2022 Feb;28(2):243-250. doi: 10.1038/s41591-021-01672-4. Epub 2022 Feb 10.
Two decades ago, the sequence of the first human genome was published. Since then, advances in genome technologies have resulted in whole-genome sequencing and microarray-based genotyping of millions of human genomes. However, genetic and genomic studies are predominantly based on populations of European ancestry. As a result, the potential benefits of genomic research-including better understanding of disease etiology, early detection and diagnosis, rational drug design and improved clinical care-may elude the many underrepresented populations. Here, we describe factors that have contributed to the imbalance in representation of different populations and, leveraging our experiences in setting up genomic studies in diverse global populations, we propose a roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances. Our Perspective highlights the importance of sincere, concerted global efforts toward genomic equity to ensure the benefits of genomic medicine are accessible to all.
二十年前，人类基因组的第一个序列被公布。从那时起，基因组技术的进步已经实现了数百万人的全基因组测序和基于微阵列的基因分型。然而，遗传和基因组研究主要基于欧洲血统的人群。因此，基因组研究的潜在好处——包括更好地了解疾病的病因、早期检测和诊断、合理的药物设计以及改善临床护理——可能会使许多代表性不足的人群无法受益。在这里，我们描述了导致不同人群代表性失衡的因素，并利用我们在不同全球人群中开展基因组研究的经验，提出了一条加强包容性和确保基因组学进步平等健康效益的路线图。我们的观点强调了真诚、协调一致的全球努力实现基因组公平的重要性，以确保所有人都能获得基因组医学的好处。
