Ojewunmi Oyesola O, Fatumo Segun
Precision Healthcare University Research Institute, Queen Mary University of London, Empire House, 67-75 New Road, London E1 1HH, United Kingdom.
MRC/UVRI and LSHTM Uganda Research Unit, Plot 51-59 Nakiwogo Road, PO Box 49, Entebbe, Uganda.
Hum Mol Genet. 2025 Apr 30. doi: 10.1093/hmg/ddaf025.
Significant gaps persist despite the progress in raising awareness of genomic diversity and including individuals of African ancestry in genomic research. African populations remain underrepresented in genomic studies despite their deep evolutionary history, demographic diversity, and unique genetic architecture for gene discovery. This underrepresentation constrains the portability of findings from other populations to African settings due to the poor predictive performance of genetic scores. Consequently, it hinders global efforts in translational research, slows the progression of genomic medicine, and worsens health disparities-a missed opportunity for precision medicine globally. However, genuine prioritisation and expansion of genomic data collection from individuals of African ancestry can drive more equitable health solutions that benefit all populations. In this review, we highlight the opportunities presented by African genomic diversity, the urgent need for larger datasets and biobanks with diverse phenotypes from African populations, and recent developments in African genomic research.
尽管在提高对基因组多样性的认识以及将非洲裔个体纳入基因组研究方面取得了进展，但重大差距依然存在。尽管非洲人群拥有深厚的进化历史、人口多样性以及用于基因发现的独特遗传结构，但在基因组研究中他们的代表性仍然不足。由于基因评分的预测性能不佳，这种代表性不足限制了研究结果从其他人群向非洲环境的可转移性。因此，它阻碍了转化研究的全球努力，减缓了基因组医学的发展进程，并加剧了健康差距——这是全球精准医学错失的一个机会。然而，真正优先考虑并扩大从非洲裔个体收集基因组数据，可以推动更公平的健康解决方案，使所有人群受益。在这篇综述中，我们强调了非洲基因组多样性带来的机遇、对来自非洲人群的更大数据集和具有多样表型的生物样本库的迫切需求，以及非洲基因组研究的最新进展。
