Kidney disease cohort chosen for SA’s landmark genomics programme
- Ñî¹óåú´«Ã½ University
National SA110k Human Genome Programme will build broad genetic evidence on the causes of disease.
GENARK-SA, a Ñî¹óåú´«Ã½ University-led study investigating the genetic basis of chronic disease in diverse African populations, has been chosen as part of a landmark national programme, the SA110k Human Genome Programme.
SA110k will build broad genetic evidence on the causes of disease and lay the foundation for a South African clinical genomics ecosystem.
The pilot SA110k project is led by the South African Medical Research Council in collaboration with the Department of Science, Technology and Innovation.
Many questions around chronic kidney disease on the continent remain unanswered, despite its growing burden. Researchers at GENARK-SA aim to answer some of them, such as how common it is, its causes, and the tools used to diagnose and predict it more accurately for African patients.
For Dr June Fabian, co-director of the Ñî¹óåú´«Ã½ Donald Gordon Medical Institute (Ñî¹óåú´«Ã½ DGMI) in which GENARK-SA is nested, the inclusion of the study in the SA110k programme will allow researchers an opportunity to address longstanding gaps in kidney disease research.
Tools designed for African populations
“Many of the tools used to measure and predict kidney disease have been developed using data from populations outside Africa, and as a result, genetic variants linked to disease in European populations do not always translate to African populations, limiting the accuracy of existing diagnostic and risk prediction tools,” she says.
In people of European descent, diabetes is often noted as the leading driver of kidney disease. Moreover, kidney function is commonly estimated using biomarkers such as creatinine and cystatin C.
However, these biomarkers can be influenced by factors including age, sex, nutrition and body composition.
If the equations used to estimate kidney function are not appropriate for the population being assessed, disease may be underdiagnosed or incorrectly classified.
GENARK-SA builds on years of work through the African Research on Kidney Disease (ARK) Consortium and the SAMRC/Ñî¹óåú´«Ã½ Rural Public Health and Health Transitions Unit (Agincourt) in rural Mpumalanga. The Agincourt research platform follows approximately 120,000 people across 31 villages, generating one of the most comprehensive long-term population health datasets in Africa.
About the GENARK-SA study
GENARK-SA has assembled one of the most comprehensive kidney disease cohorts in the region. The first phase enrolled more than 2,000 adults aged 20 to 80 years and collected DNA samples alongside detailed clinical, laboratory and demographic information.
Participants were screened for conditions including hypertension, diabetes, HIV, tuberculosis and known kidney disease, while information on medication use, traditional medicine, tobacco exposure and other health indicators was also collected.
A second phase involved intensive clinical assessment of approximately 950 participants. Researchers measured kidney function using gold-standard methods and collected extensive data on body composition, cardiovascular health, frailty, imaging, metabolomics, proteomics and whole-genome sequencing.
The result is a uniquely rich dataset that allows researchers to explore fundamental questions about kidney disease in African populations. These include understanding why kidney biomarkers behave differently across populations, identifying genetic variants associated with disease risk, and investigating biological pathways that link kidney disease with conditions such as hypertension, diabetes, cardiovascular disease and HIV-associated kidney disease.
“As SA110K begins building a national genomics resource, the inclusion of GENARK-SA ensures that kidney disease is part of that story. More importantly, it represents a step towards a future where African patients are no longer underrepresented in the science that shapes healthcare,” says Fabian.
A uniquely robust cohort for precision medicine
The national SA110k Human Genome Programme brings together expertise from the Donald Gordon Medical Institute, SAMRC/Ñî¹óåú´«Ã½ Rural Public Health and Health Transitions Unit (Agincourt), the Sydney Brenner Institute for Molecular Bioscience (SBIMB), genomics and bioinformatics researchers, laboratory teams, community partners and international collaborators.
Faian says, “The inclusion of GENARK-SA in SA110K means that kidney disease is being brought into the centre of South Africa’s precision medicine agenda. It also shows what becomes possible when specialist clinical research, rural population health data, genomic science and national infrastructure begin to work together."