Pharmacogenomics in Cancer Treatment: Challenges and Opportunities in African Settings.
- 1School of Laboratory Medicine and Medical Sciences, College of Health Science, University of KwaZulu-Natal, Durban, South Africa.
- 2Genetix, Woodstock, South Africa.
- 3Centre for the AIDS Programme of Research in South Africa (CAPRISA), University of KwaZulu-Natal, Durban, South Africa.
Abstract
Background
Cancer incidence in Africa is projected to reach 2.1 million new cases annually by 2040. Current treatment guidelines remain largely based on pharmacogenomic data predominantly from European and Asian genetic profiles, potentially compromising safety and efficacy in African patients. However, limited clinical validation data, extreme intra-population genetic diversity, and significant healthcare infrastructure barriers constrain the translational application of pharmacogenomics in Africa.Objective
This review critically examines pharmacogenomic variants with established clinical actionability in cancer treatment, focusing on those with differential frequencies or African-specific alleles, and evaluates the evidence base for their implementation in African healthcare settings.Methods
We searched PubMed/MEDLINE, PharmGKB, dbSNP, and Google Scholar for peer-reviewed studies reporting pharmacogenomic variants in African or African-ancestry populations relevant to cancer therapeutics. We synthesised evidence from recent African and global studies on pharmacogenomic variants affecting commonly used chemotherapy agents.Results
Several variants show marked frequency differences between African-ancestry reference populations and European populations, including DPYD rs115232898 (2.06% vs. 0.00%), CYP2D6*17 (18.76% vs. 0%), and CYP3A5*6 (12.82% vs. 0%). However, many of these estimates derive primarily from African-American datasets and should not be interpreted as representative of continental African populations. African-specific variants such as CYP2D6*17 and DPYD rs115232898 are underrepresented in guideline development datasets. Intra-African genetic diversity is the highest globally, with Khoi-San populations harbouring extensive private variation, suggesting that no single pharmacogenomic panel will be universally applicable across the continent.Conclusion
While pharmacogenomics holds substantial promise for personalising cancer treatment in Africa, its current translational readiness is limited by a critical lack of African-specific clinical validation data. Priorities include multi-site validation studies, development of African-enriched genotyping panels, and integration of pharmacogenomic education into oncology practice. Implementation must be accompanied by ethical frameworks ensuring data sovereignty and equitable benefit-sharing.
Related
- Metagenomic sequencing in encephalitis diagnostics: Challenges and opportunities in clinical settings
- Anticancer Drugs Pharmacogenomics in African Populations: A Scoping Review of Clinico-Molecular Data and Involvement in Personalized Medicine
- Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges
- How many patients attending London Emergency Departments could be managed elsewhere? A whole-system review of missed opportunities for care in more appropriate settings
- Challenges and opportunities in emotion dynamics research: an interdisciplinary perspective
BibTeX
@article{maphumulo2026pharmacogenomics,
title = {{Pharmacogenomics in Cancer Treatment: Challenges and Opportunities in African Settings.}},
author = {Ntombikhona Fortunate Maphumulo and George Rebello and Veron Ramsuran},
journal = {Cancer medicine},
year = {2026},
month = oct,
doi = {10.1002/cam4.72435},
url = {https://europepmc.org/article/MED/42958622},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Pharmacogenomics in Cancer Treatment: Challenges and Opportunities in African Settings.
AU - Ntombikhona Fortunate Maphumulo
AU - George Rebello
AU - Veron Ramsuran
PY - 2026
DA - 2026/10/29
JO - Cancer medicine
DO - 10.1002/cam4.72435
UR - https://europepmc.org/article/MED/42958622
AB - Background Cancer incidence in Africa is projected to reach 2.1 million new cases annually by 2040. Current treatment guidelines remain largely based on pharmacogenomic data predominantly from European and Asian genetic profiles, potentially compromising safety and efficacy in African patients. However, limited clinical validation data, extreme intra-population genetic diversity, and significant healthcare infrastructure barriers constrain the translational application of pharmacogenomics in Africa.Objective This review critically examines pharmacogenomic variants with established clinical actionability in cancer treatment, focusing on those with differential frequencies or African-specific alleles, and evaluates the evidence base for their implementation in African healthcare settings.Methods We searched PubMed/MEDLINE, PharmGKB, dbSNP, and Google Scholar for peer-reviewed studies reporting pharmacogenomic variants in African or African-ancestry populations relevant to cancer therapeutics. We synthesised evidence from recent African and global studies on pharmacogenomic variants affecting commonly used chemotherapy agents.Results Several variants show marked frequency differences between African-ancestry reference populations and European populations, including DPYD rs115232898 (2.06% vs. 0.00%), CYP2D6*17 (18.76% vs. 0%), and CYP3A5*6 (12.82% vs. 0%). However, many of these estimates derive primarily from African-American datasets and should not be interpreted as representative of continental African populations. African-specific variants such as CYP2D6*17 and DPYD rs115232898 are underrepresented in guideline development datasets. Intra-African genetic diversity is the highest globally, with Khoi-San populations harbouring extensive private variation, suggesting that no single pharmacogenomic panel will be universally applicable across the continent.Conclusion While pharmacogenomics holds substantial promise for personalising cancer treatment in Africa, its current translational readiness is limited by a critical lack of African-specific clinical validation data. Priorities include multi-site validation studies, development of African-enriched genotyping panels, and integration of pharmacogenomic education into oncology practice. Implementation must be accompanied by ethical frameworks ensuring data sovereignty and equitable benefit-sharing.
SN - 2045-7634
ER -