Across East Africa, a quiet revolution is reshaping how we understand health and disease: genomics. Once seen as a distant frontier, it is becoming part of local research and public health systems. In East Africa, recent efforts are beginning to shift from reliance on external laboratories toward building local capacity and generating region‐specific data.

This has implications for infectious disease control, non‐communicable disease research and precision medicine, and in this article, we highlight three domains of advancement in East Africa: human adaptation genomics, disease genomics (especially infectious diseases and cancer) and capacity & surveillance infrastructure.

Understanding human adaptation

East Africa’s diverse geography has long made it a window into human genomic studies and evolution. One of the most striking studies came from Kenya’s Turkana people, a pastoralist community living in harsh, semi-arid conditions. Researchers sequenced 367 whole genomes from this community and identified eight genomic regions under recent positive selection; one region involves the gene STC1, expressed in the kidney and implicated in water conservation and metabolism of purine‐rich diets.

The study, published in Science, suggests that Turkana physiology may have adapted to limited water and high temperatures, insights that could inform future research on kidney health and dehydration.

Tackling disease through infectious disease genomics: Mosquitoes & malaria parasites

East Africa’s scientists are increasingly using genomics to understand and outsmart infectious diseases. Take malaria, for instance. In Kenya, scientists analysed 498 genomes of Anopheles arabiensis mosquitoes from different regions. The results showed differences in insecticide resistance genes, revealing that what works for vector control in one area might fail in another.

Another Kenyan study examined Plasmodium falciparum in asymptomatic school children and found mutations associated with artemisinin resistance, the very drug that forms the backbone of malaria treatment. These findings show how genomics helps public-health experts stay one step ahead of evolving pathogens.

Cancer genomics: The next frontier

Cancer research is also gaining ground. In Kenya, a small but important study found that over 80% of women with triple-negative breast cancer carried BRCA1 or BRCA2 mutations, far higher than previously thought. Another study involving 838 patients linked specific breast cancer subtypes to differences in menopause age, parity, and body mass index.

These are not only statistics but also clues that could help tailor effective screening, prevention and treatment strategies for African women, much more than relying on Western genetic data will. And the work continues: in 2024, the East Africa Biosciences Studio launched a genomics-driven early diagnosis challenge for breast and prostate cancer.

Photo credit: National Cancer Institute

Building regional capacity

Behind every scientific breakthrough is an ecosystem that made it possible. Across East Africa, the focus is shifting from sending samples abroad to sequencing and analysing them locally. A recent review of the East African Community’s (EAC) pathogen genomics landscape found progress but also major disparities. Some countries have built next-generation sequencing labs and trained bioinformaticians; others still depend heavily on external partners.

The takeaway? Capacity-building includes embedding genomics into national health systems, ensuring ethical data governance, and keeping the expertise within the region.

What it means for the future

-  Personalised care becomes possible. Local genetic data can help doctors better predict risk or response to treatment, especially for diseases like cancer or sickle-cell anemia.
-  Public-health response gets sharper. Genomic surveillance lets authorities spot new mutations early, before they lead to drug resistance or outbreaks.
-  Representation matters. The more East African populations are studied, the more global science becomes accurate and equitable.
-  Skills and infrastructure must grow. Training scientists, building bioinformatics capacity and maintaining funding will decide how sustainable this progress becomes.

Challenges & considerations

-  Data privacy and ethics: Genomics involves sensitive information; governance frameworks must align with local norms and protect participants.
-  Resource constraints: Sequencing costs, reagent supply chains and skilled personnel remain limiting factors in many countries.
-  Translating findings to care: Scientific discovery must translate into diagnostics, treatments or public health policy to deliver value locally.
-  Heterogeneity: East Africa is genetically and environmentally diverse; findings from one population (e.g., Turkana) may not generalise to others.
-  Sustainability: Many initiatives depend on external funding; building local ownership and integration into national health systems is vital.

East Africa is at a turning point in genomics and while significant challenges remain, the trajectory is clear: improved representation, greater precision in diagnostics and interventions and enhanced public health responsiveness. As local scientists, institutions and policymakers continue to invest in genomics, the future of precision medicine in Africa will be written, sequenced and interpreted right here at home, by Africans, for Africans.

And, if you’re curious about the part you can play in this, you should plan to attend the CoGSAYR Africa Summit, taking place in January 2026 in Lagos, Nigeria. The summit will bring together Africa’s next generation of genomic thinkers, students, researchers and innovators who are shaping what healthcare on the continent will look like in the years ahead.

References

1.  A. J. Lea et al., Adaptations to water stress and pastoralism in the Turkana of northwest Kenya. Science389,1246-1251(2025). DOI:10.1126/science.adv2467. Science
2.  Polo B et al. Genomic surveillance reveals geographical heterogeneity and differences in known and novel insecticide resistance mechanisms in Anopheles arabiensis across Kenya. BMC Genomics 26, 599 (2025). BMC Genomics
3.  Josephine Nyabeta Rioki et al. BRCA1 and BRCA2 mutations and their clinical relevance in selected women diagnosed with triple-negative breast cancer in Kenya: a descriptive cross-sectional study. Pan African Medical Journal. 2023;45:102. [doi: 10.11604/pamj.2023.45.102.36431] PAMJ
4.  Sayed A et al. Breast-cancer risk factors and molecular subtypes in Kenyan patients. Breast Cancer Res (2021). PubMed
5.  Nguinkal, J.A., Zoclanclounon, Y.A.B., Molina, A. et al. Assessment of the pathogen genomics landscape highlights disparities and challenges for effective AMR Surveillance and outbreak response in the East African community. BMC Public Health 24, 1500 (2024). https://doi.org/10.1186/s12889-024-18990-0 BMC Public Health
6.  Genomics-Driven Early Diagnosis Challenge for Breast and Prostate Cancer. East Africa Biosciences Studio, NRF Kenya (2024). Link
7.  Kenya Breast Cancer Study (NIH DCEG). Link