Genomic Studies and Biomarker Discovery for Cancer in East Africa Current Evidence, Sequencing Gaps and Priorities for Locally Relevant Diagnostics
Muhindo Anitah
Department of Pharmacy Kampala International University Uganda
Email: anitah.muhindo@studwc.kiu.ac.ug
ABSTRACT
Cancer genomics has improved cancer classification, risk assessment, and treatment selection, yet East African populations remain poorly represented in sequencing research and biomarker development. Studies across Kenya, Uganda, Tanzania, Rwanda, Ethiopia, and regional networks have focused mainly on breast, oesophageal, prostate, cervical, HPV-related cancers, and endemic Burkitt lymphoma. Researchers have used genotyping, genome-wide studies, exome and genome sequencing, RNA sequencing, viral analysis, immunohistochemistry, and circulating tumour DNA. Although these studies show feasibility and reveal possible ancestry-, infection-, and exposurerelated differences, most remain exploratory because cohorts are small, clinically diverse, and concentrated in tertiary centres. Regional validation, tumour–normal pairing, and long-term outcome data are limited, while local pathology, biobanking, sequencing, bioinformatics, and interpretation capacity remain uneven. Progress requires representative multicountry cohorts, standardised methods, African-governed data resources, locally validated assays, ethical oversight, strong pathology services, treatment access, and implementation research to ensure genomic discoveries improve patient outcomes across diverse East African settings.
Keywords: cancer genomics; biomarkers; East Africa; sequencing; precision oncology; liquid biopsy; molecular diagnostics; African ancestry.
CITE AS: Muhindo Anitah. (2026). Genomic Studies and Biomarker Discovery for Cancer in East Africa Current Evidence, Sequencing Gaps and Priorities for Locally Relevant Diagnostics. IDOSR JOURNAL OF SCIENCE AND TECHNOLOGY 12(2):113-117, 2026.
https://doi.org/10.59298/IDOSR/JST/26/122.113117