Social stigma, genetic services, and South Africa: is testing taboo? Caitlin Ching Sent, Brendon Pearce Journal of Community Genetics, 2026 Genetic testing and counselling are invaluable tools for preventative and personalised care. Unfortunately, utilisation of these services in South Africa, and continental Africa more broadly, has been limited. South Africa, which suffers from a unique epidemiological state, offers these genetic services, but accessibility is limited, as is education around this topic. Furthermore, coupled with the previous limitations, there is a prevalent distrust of the healthcare system and the stakeholders involved therein. This is largely due to the sociopolitical history of the country, which has resulted in severe economic inequalities and racial marginalisation of majority population groups. To effectively reduce the disease burden that South Africa is currently experiencing, it is necessary to increase the accessibility and uptake of these services, particularly genetic testing. While geographic and financial barriers could be tackled governmentally, other barriers, such as stigma towards genetic testing, Westernised medicine in general, and those that provide it, need to be investigated before investing valuable resources into infrastructure. Understanding these barriers would provide critical insight into the demand for genetic testing and how uptake and motivation could be improved. This narrative review discusses potential barriers to uptake and consumer demand in South Africa, and concludes by tying all identified barriers into an overarching concern regarding stigma (particularly intersectional stigma) related to genetic testing in a South African context. By doing so, we identify several key information gaps that future research could fill.
Lifestyle and Behavioural Intervention Therapy for Enhanced Hippocampal Neuroplasticity Ebrahim Samodien, Sylvester Ifeanyi Omoruyi, Brendon Pearce, Melisse Erasmus, Nireshni Chellan Lifestyle Medicine, 2026 Background The neurogenic and neuroplastic capability of the brain plays a crucial role in mitigating responses to internal and external environmental stimuli. However, this process is inhibited in obesity, neurodegenerative and psychological disorders, the prevalence of which has increased on a global scale. To date, there is no real effective way to ameliorate these conditions except for lifestyle and behavioural interventions. Lifestyle interventions, such as dietary regulation, nutrient supplementation, physical activity and environmental enrichment, can positively modulate neurogenic capacity. Aim This review describes various lifestyle modifications and how these impact the neurogenesis of adult brains. Results Ideally, multimodal approaches incorporating several of these interventions could be employed to enhance neurogenesis and facilitate constructive neuroplastic remodelling. This has promising potential in supporting brain health and contributing to the management of various neurological conditions, including brain injuries and can promote healthy ageing, although its impact on longevity remains to be fully understood. Conclusion The observed improvement in the measured outcomes elicited through these interventions cannot be ignored. Thus, further efforts should be made to investigate this topic and research field to identify more evidence‐based impacts of lifestyle modifications on neuroplasticity and related processes.
Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort Megan Collins, Brendon Pearce Molecular Biology Reports, 2025 Background Non-communicable diseases are multifactorial in that they can be caused by genetic factors, age, sex and poor lifestyle choices. They are estimated to account for 71% of deaths globally with 80% of these deaths occurring in low- and middle-income countries. This is particularly true for Intervertebral Disc Degeneration associated with mitochondrial dysfunction. Interestingly, mitochondrial dysfunction can arise from mutations in both the nuclear and the mitochondrial genomes. The present study, therefore, aimed to determine if there is an association between mitochondrial DNA mutations associated with mitochondrial dysfunction and disc degeneration in a South African cohort, and in addition, generate genetic data for understudied mutations in African populations. Methods and results Mutations were selected using a systematic literature review. DNA was collected using buccal swabs and extracted using a standard salt-lysis protocol. Mass-array genotyping was done for previously reported as well as novel mutations. GenAlEx (version 6.5), RStudio and SHEsis were used for statistical analyses. Although no significant associations were found, the identified polymorphic mutations C16223T, A10398G and A8536G were found to have higher mutant allele frequencies in case individuals indicating that had a larger cohort been used, significance may have been observed. Conclusions This study was able to generate genotypic information for a South African cohort for both reported and understudied mutations. Furthermore, the identification of higher mutant allele frequencies for C16223T, A10398G and A8536G highlights the importance of considering these mutations in future studies using a larger cohort.
Longitudinal assessment of DNA recovery from post-mortem whole blood stored in EDTA, sodium fluoride/potassium oxalate and additive-free tubes Jana Grobbelaar, Loyiso Abongile Marvin Vuko, Bronwen Davies, Brendon Pearce, Fungisai Lorraine Musiyandaka, et al. International Journal of Legal Medicine, 2025 Adverse drug reactions and fatalities can result from therapeutic drug use due to genetic deficiencies in drug-metabolizing enzymes. In cases where ancillary testing may not reveal a clear cause of death, molecular autopsies can be valuable. However, forensic mortuaries do not retain DNA samples in all cases, which hinders subsequent genetic testing if it is later deemed necessary. This study aimed to evaluate whether post-mortem whole blood samples collected for toxicological analysis, could provide viable DNA for genetic testing after varying storage periods. Thirty deceased individuals were recruited with informed consent. Blood collected at autopsy from each individual was stored in two sodium fluoride/potassium oxalate (gray-top) tubes, two additive-free (red-top) tubes and one ethylenediaminetetraacetic acid (EDTA; purple-top) tube– the latter recommended for DNA analysis. Blood from one gray-top and one red-top tube were sampled for toxicological analysis prior to DNA analysis, while the remaining samples (acting as controls) underwent DNA analysis immediately. DNA analysis involved DNA extraction and DNA concentration and degradation assessment. Blood samples were stored at 4 °C and DNA extraction and analysis was repeated one year and then five years later. Toxicological sampling did not significantly influence DNA results. DNA concentration and quality significantly decreased over time for all sample types, with DNA from red-top tubes showing the greatest decline. The study showed that DNA testing for drug-metabolizing enzymes was feasible on whole blood that had been stored for five years. This finding supports the potential for retrospective genetic testing in cases of adverse drug reactions and fatalities.
Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape Brendon Pearce, Clifford Jacobs, Mongi Benjeddou Molecular Biology Reports, 2023 Background Amphiphilic solute facilitator organic cation transporters mediate the movement of various endogenous and exogenous organic cations, including crucial drugs like metformin, oxaliplatin, and lamivudine. These transporters are now seen as a potential explanation for inter-individual differences in drug effectiveness, contributing to 15–30% of such variability due to genetic factors.The aim of this study was to determine the baseline minor allele frequency distribution of 18 known coding SNPs in the SLC22A3 gene of 278 Cape Admixed (130) and Xhosa (148) individuals residing in Cape Town, South Africa. Methods A convenience sampling method was used for sample collection. DNA extraction and subsequent amplification of target sites was carried out according to standard established methodologies. All genotyping was performed using the SNaPshot™ mini-seuqencing platform. Results This study found no genetic polymorphisms in the coding region of the SLC22A3 gene of both the Xhosa and Cape Admixed individuals investigated. Conclusion This study has shown that SLC22A3 coding SNPs observed in other populations are absent in the sample of both Cape Admixed and Xhosa individuals studied. The lack of protein sequence variation was consistent with other studies and may reflect the significant physiological role of human organic cation transporter 3 in maintaining cellular and organismal homeostasis.
Cross-sectional study of the association of 5 single nucleotide polymorphisms with enalapril treatment response among South African adults with hypertension Charity Masilela, Brendon Pearce, Joven Jebio Ongole, Oladele Vincent Adeniyi, Rabia Johnson, et al. Medicine United States, 2021 This study investigates the association of 5 single nucleotide polymorphisms (SNPs) in selected genes (ABO, VEGFA, BDKRB2, NOS3, and ADRB2) with blood pressure (BP) response to enalapril. The study further assessed genetic interactions that exist within these genes and their implications in enalapril treatment response among South African adults with hypertension. A total of 284 participants belonging to the Nguni tribe of South Africa on continuous treatment for hypertension were recruited. Five SNPs in enalapril pharmacogenes were selected and genotyped using MassArray. Uncontrolled hypertension was defined as BP ≥140/90 mm Hg. The association between genotypes, alleles, and BP response to treatment was determined by fitting multivariate logistic regression model analysis, and genetic interactions between SNPs were assessed by multifactor dimensionality reduction. Majority of the study participants were female (75.00%), Xhosa (78.87%), and had uncontrolled hypertension (69.37%). All 5 SNPs were exclusively detected among Swati and Zulu participants. In the multivariate (adjusted) logistic model analysis, ADRB2 rs1042714 GC (adjusted odds ratio [AOR] = 2.31; 95% confidence interval [CI] 1.02–5.23; P = .044) and BDKRB2 rs1799722 CT (AOR = 2.74; 95% CI 1.19–6.28; P = .017) were independently associated with controlled hypertension in response to enalapril. While the C allele of VEGFA rs699947 (AOR = 0.37; 95% CI 0.15–0.94; P = .037) was significantly associated with uncontrolled hypertension. A significant interaction between rs699947, rs495828, and rs2070744 (cross-validation consistency = 10/10; P = .0005) in response to enalapril was observed. We confirmed the association of rs1042714 (ADRB2) and rs1799722 (BDKRB2) with controlled hypertension and established an interaction between rs699947 (VEGFA), rs495828 (ABO), and rs2070744 (NOS3) with BP response to enalapril. Our findings have provided substantial evidence for the use of SNPs as predictors for enalapril response among South Africans adults with hypertension.
Social stigma, genetic services, and South Africa: is testing taboo? CC Sent, B Pearce Journal of Community Genetics 17 (3), 59 , 2026 2026
Holistic view of understanding genetic predisposition and perceptions of genomic research in African communities: tradition, trust and transformation N Ribeiro, B Pearce Journal of Community Genetics 17 (3), 54 , 2026 2026
Lifestyle and Behavioural Intervention Therapy for Enhanced Hippocampal Neuroplasticity E Samodien, SI Omoruyi, B Pearce, M Erasmus, N Chellan Lifestyle Medicine 7 (1), e70045 , 2026 2026
Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort M Collins, B Pearce Molecular Biology Reports 52 (1), 288 , 2025 2025 Citations: 1
Untangling the mitochondrial web: an in-silico analysis of genetic mutations, protein interactions, and tRNA dynamics in oxidative phosphorylation and disc degeneration M Collins, B Pearce Journal of Proteins and Proteomics 16 (3), 305-329 , 2025 2025
Mitochondrial dysfunction and diabetes in South Africa: A review B Pearce, K Pearce Endocrine and Metabolic Science 14, 100157 , 2024 2024 Citations: 2
Genetic preservation of SLC22A3 in the Admixed and Xhosa populations living in the Western Cape B Pearce, C Jacobs, M Benjeddou Molecular Biology Reports 50 (12), 10199-10206 , 2023 2023
Genetic Preservation of SLC22A3 in Local South African Populations B Pearce, C Jacobs, M Benjeddou 2023
Promoter haplotype structure of solute carrier 22 member 2 (SLC22A2) in the Xhosa population of South Africa and their differential effect on gene expression Z Abrahams-October, S Lloyd, B Pearce, R Johnson, M Benjeddou Gene 820, 146292 , 2022 2022 Citations: 1
Cross-sectional study of the association of 5 single nucleotide polymorphisms with enalapril treatment response among South African adults with hypertension C Masilela, B Pearce, JJ Ongole, OV Adeniyi, R Johnson, M Benjeddou Medicine 100 (46), e27836 , 2021 2021 Citations: 8
The potential of chalcone-capped gold nanoparticles for the management of diabetes mellitus AA Omolaja, B Pearce, SI Omoruyi, JA Badmus, E Ismail, J Marnewick, ... Surfaces and Interfaces 25, 101251 , 2021 2021 Citations: 32
Genetic association of solute carrier transporter gene variants with metformin response Z Abrahams-October, L Xhakaza, B Pearce, CM Masilela, M Benjeddou, ... Balkan Journal of Medical Genetics: BJMG 24 (1), 47 , 2021 2021 Citations: 10
Single nucleotide polymorphisms associated with metformin and sulphonylureas’ glycaemic response among South African adults with type 2 diabetes mellitus C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou Journal of Personalized Medicine 11 (2), 104 , 2021 2021 Citations: 11
Genomic association of single nucleotide polymorphisms with blood pressure response to hydrochlorothiazide among South African adults with hypertension C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou Journal of personalized medicine 10 (4), 267 , 2020 2020 Citations: 12
Factors associated with glycemic control among South African adult residents of Mkhondo municipality living with diabetes mellitus C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou Medicine 99 (48), e23467 , 2020 2020 Citations: 28
Socio-demographic and modifiable risk factors of diabetes and hypertension among resource constrained patients from rural areas in Mdantsane Township in South Africa L Xhakaza, Z Abrahams-October, MM Mohammednur, B Pearce, ... African Health Sciences 20 (3), 1344-1354 , 2020 2020 Citations: 6
Glucose-uptake activity and cytotoxicity of Diterpenes and Triterpenes isolated from Lamiaceae plant species NGER Etsassala, KO Ndjoubi, TJ Mbira, B Pearce, K Pearce, EI Iwuoha, ... Molecules 25 (18), 4129 , 2020 2020 Citations: 15
Glucose Uptake Activity and Cytotoxicity of Abietane Diterpenes and Triterpenes Isolated from Lamiaceae Plant Species NGER Etsassala, KO Ndjoubi, TJ Mbira, B Pearce, K Pearce, EI Iwuoha, ... Preprints , 2020 2020
Evaluation of the suitability of 19 pharmacogenomics biomarkers for individualized metformin therapy for type 2 diabetes patients L Xhakaza, Z Abrahams-October, B Pearce, CM Masilela, OV Adeniyi, ... Drug metabolism and personalized therapy 35 (2), 20200111 , 2020 2020 Citations: 9
Cross-sectional study of prevalence and determinants of uncontrolled hypertension among South African adult residents of Mkhondo municipality C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou BMC public health 20 (1), 1069 , 2020 2020 Citations: 72
MOST CITED SCHOLAR PUBLICATIONS
Cross-sectional study of prevalence and determinants of uncontrolled hypertension among South African adult residents of Mkhondo municipality C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou BMC public health 20 (1), 1069 , 2020 2020 Citations: 72
The potential of chalcone-capped gold nanoparticles for the management of diabetes mellitus AA Omolaja, B Pearce, SI Omoruyi, JA Badmus, E Ismail, J Marnewick, ... Surfaces and Interfaces 25, 101251 , 2021 2021 Citations: 32
Factors associated with glycemic control among South African adult residents of Mkhondo municipality living with diabetes mellitus C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou Medicine 99 (48), e23467 , 2020 2020 Citations: 28
Genetic polymorphisms and haplotypes of the organic cation transporter 1 gene (SLC22A1) in the Xhosa population of South Africa C Jacobs, B Pearce, M Du Plessis, N Hoosain, M Benjeddou Genetics and Molecular Biology 37 (2), 350-359 , 2014 2014 Citations: 25
Genetic polymorphisms of the organic cation transporter 1 gene ( SLC22A1 ) within the Cape Admixed population of South Africa M Du Plessis, B Pearce, C Jacobs, N Hoosain, M Benjeddou Molecular biology reports 42 (3), 665-672 , 2015 2015 Citations: 19
Glucose-uptake activity and cytotoxicity of Diterpenes and Triterpenes isolated from Lamiaceae plant species NGER Etsassala, KO Ndjoubi, TJ Mbira, B Pearce, K Pearce, EI Iwuoha, ... Molecules 25 (18), 4129 , 2020 2020 Citations: 15
Genomic association of single nucleotide polymorphisms with blood pressure response to hydrochlorothiazide among South African adults with hypertension C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou Journal of personalized medicine 10 (4), 267 , 2020 2020 Citations: 12
Single nucleotide polymorphisms of the SLC22A2 gene within the Xhosa population of South Africa C Jacobs, B Pearce, M Du Plessis, N Hoosain, M Benjeddou Drug Metabolism and Pharmacokinetics 30 (6), 457-460 , 2015 2015 Citations: 12
Single nucleotide polymorphisms associated with metformin and sulphonylureas’ glycaemic response among South African adults with type 2 diabetes mellitus C Masilela, B Pearce, JJ Ongole, OV Adeniyi, M Benjeddou Journal of Personalized Medicine 11 (2), 104 , 2021 2021 Citations: 11
Genetic association of solute carrier transporter gene variants with metformin response Z Abrahams-October, L Xhakaza, B Pearce, CM Masilela, M Benjeddou, ... Balkan Journal of Medical Genetics: BJMG 24 (1), 47 , 2021 2021 Citations: 10
Evaluation of the suitability of 19 pharmacogenomics biomarkers for individualized metformin therapy for type 2 diabetes patients L Xhakaza, Z Abrahams-October, B Pearce, CM Masilela, OV Adeniyi, ... Drug metabolism and personalized therapy 35 (2), 20200111 , 2020 2020 Citations: 9
Cross-sectional study of the association of 5 single nucleotide polymorphisms with enalapril treatment response among South African adults with hypertension C Masilela, B Pearce, JJ Ongole, OV Adeniyi, R Johnson, M Benjeddou Medicine 100 (46), e27836 , 2021 2021 Citations: 8
Socio-demographic and modifiable risk factors of diabetes and hypertension among resource constrained patients from rural areas in Mdantsane Township in South Africa L Xhakaza, Z Abrahams-October, MM Mohammednur, B Pearce, ... African Health Sciences 20 (3), 1344-1354 , 2020 2020 Citations: 6
Mapping SLCO1B1 Genetic Variation for Global Precision Medicine in Understudied Regions in Africa: A Focus on Zulu and Cape Admixed Populations N Hoosain, B Pearce, C Jacobs, M Benjeddou OMICS: A Journal of Integrative Biology 20 (9), 546-554 , 2016 2016 Citations: 6
Effect of the African-specific promoter polymorphisms on the SLC22A2 gene expression levels B Pearce, Z Abrahams-October, L Xhakaza, C Jacobs, M Benjeddou Drug Metabolism and Personalized Therapy 33 (2), 85-89 , 2018 2018 Citations: 4
SLC22A2–mapping genomic variations within South African indigenous and admixed populations B Pearce, C Jacobs, N Hoosain, M Benjeddou Drug Metabolism and Personalized Therapy 31 (4), 213-220 , 2016 2016 Citations: 3
Mitochondrial dysfunction and diabetes in South Africa: A review B Pearce, K Pearce Endocrine and Metabolic Science 14, 100157 , 2024 2024 Citations: 2
Lack of genomic diversity in the SLC47A1 gene within the indigenous Xhosa population C Jacobs, B Pearce, N Hoosain, M Benjeddou Drug Metabolism and Personalized Therapy 31 (2), 107-114 , 2016 2016 Citations: 2
Genetic polymorphisms and haplotype structure of the organic cation transporter 1 gene in the Zulu population of South Africa N Hoosain, S Nene, B Pearce, C Jacobs, M Du Plessis, M Benjeddou WASET Int J Biol Vet Agric Food Eng 8 (7) , 2014 2014 Citations: 2
Mitochondrial DNA variation and intervertebral disc degeneration: a genotypic analysis in a South African cohort M Collins, B Pearce Molecular Biology Reports 52 (1), 288 , 2025 2025 Citations: 1
