Genomics of African Populations: Closing the Representation Gap in Disease Risk and Treatment

Africa holds unparalleled human genetic diversity, reflecting its status as the cradle of modern humans and the deepest source of global genomic variation. Over the last decade, groundbreaking studies in population and ancient DNA genomics have revealed intricate patterns of population structure, admixture, and demographic transitions across the continent. Despite these advances, individuals of African ancestry account for less than 3% of participants in global genomic reference datasets. This stark underrepresentation, compounded by structural barriers limiting African leadership in genomic research, perpetuates inequities in global health. Diagnostic algorithms, genomic risk scores, and pharmacogenetic guidelines are often derived from non-African populations, producing inaccurate clinical predictions and exacerbating health disparities in diseases such as asthma, cardiovascular disorders, and diabetes. The recent creation of the African Strategic Advisory Group on Genomics (ASAG) under the Africa CDC signals a critical shift toward African-led genomic science and equitable precision medicine. By spotlighting African genomic diversity and local scientific leadership, this Research Topic aims to accelerate discovery and translation in population-based and clinical genomics across Africa.This Research Topic aims to bridge the gap between fundamental genomic research and clinical translation for African populations. Specifically, it will advance understanding of how genomic and immunogenetic diversity impacts disease susceptibility, drug response, and therapeutic outcomes. Key objectives include integrating multi-omics approaches to reveal the genetic basis of complex traits, improving the portability of polygenic risk scores, and deepening insight into immune diversity through high-resolution sequencing of loci such as HLA and KIR. Furthermore, this initiative will critically address the ethical, legal, and social implications (ELSI) of genomic research in Africa by promoting community-engaged, sustainable, and African-led research models that transcend traditional “helicopter” frameworks. By fostering collaboration between genomic scientists, clinicians, and policymakers, this Research Topic aims to lay the foundation for inclusive and equitable precision medicine.To gather further insights into African population genomics and its translation to healthcare innovation, we welcome contributions addressing, but not limited to, the following themes:o Full-length next-generation sequencing and characterization of highly polymorphic loci (e.g., HLA, KIR) in diverse African cohorts.o Pharmacogenomics and clinical studies evaluating population-specific treatment responses.o Genome-wide and epigenome-wide association studies of complex and infectious diseases in African populations.o Integrative multi-omics applications to uncover genetic and epigenetic drivers of disease susceptibility.o Evolutionary and population genetic studies, including ancient DNA (aDNA) and demographic reconstructions.o Ethical, legal, and social implications (ELSI) of population genomics, biobanking, and equitable data governance.o Capacity building, reproducible bioinformatics pipelines, and sustainable genomic infrastructure for African-led research.By integrating population genomics, immunogenetics, and translational medicine in African contexts, this Research Topic seeks to close the representation gap, expand global genomic reference diversity, and advance equitable precision healthcare worldwide Topic editors: Martin Petrek, Veron Ramsuran, Ananyo Choudhury Source: https://www.frontiersin.org/research-topics/83736/genomics-of-african-populations-closing-the-representation-gap-in-disease-risk-and-treatment