South Africa strengthens genomics and precision medicine capacity through new partnership

South Africa strengthens genomics and precision medicine capacity through new partnership

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By signing of a memorandum of understanding (MoU) with Illumina, a global leader in sequencing technology, the Department of Science, Technology and Innovation (DSTI) and the South African Medical Research Council (SAMRC) have taken another major step in advancing genomic and precision medicine research in South Africa.

Since 2016, the SAMRC and DSTI have collaborated on developing a national precision medicine research and innovation programme through the Strategic Health Innovation Partnerships (SHIP) initiative.

This collaboration has expanded to include the South Africa 110 000 Human Genome Programme, a multi-institutional initiative to sequence 110 000 human genomes and build the country's first national genomic reference database. This will be a secure, sovereign genomic data resource that will enable clinical research, data-driven public health strategies, biotechnology innovation and improved health equity.

Under the MoU, Illumina intends to provide access to advanced sequencing platforms, genomic array technologies optimised for African genetic diversity, and training in data analysis and stewardship. This support will boost South Africa's capacity to conduct large-scale genomic research locally, strengthening the nation's role in shaping the global genomic landscape.

The South Africa 110 000 Human Genome Programme aims to address the global gap in genomic data representing African populations. Currently, only 3% of genomes in global research are African.

By generating high-quality, contextually relevant data, South Africa will better understand genetic contributors to disease, and be able to develop tailored health interventions and reduce longstanding health inequities.

Dr Kenny Tenza, Deputy Director-General: Technology Innovation at the DSTI, highlighted the importance of this partnership for South Africa's pursuit of scientific excellence and inclusive innovation.

"The signing of this MoU by all the parties is not merely a formal agreement, but a bold commitment to transforming the future of healthcare through the power of genomics," said Tenza.

He described the partnership between the DSTI and Illumina as supporting the country's efforts to build the science, technology and innovation capabilities needed for a more equitable healthcare system.

The impact of the programme is expected to be far-reaching. It will pave the way for more tailored diagnostics and treatments that are responsive to the genetic diversity of African populations, deepening our understanding of disease mechanisms and therapeutic responses.

It will also play a vital role in strengthening genomic surveillance for infectious diseases such as tuberculosis and HIV, a contribution that directly advances Sustainable Development Goal 3 - to ensure healthy lives and promoting well-being for all at all ages.

Beyond advancing scientific frontiers, this initiative will build a clinical genomics ecosystem that connects hospitals, research institutions and clinical trial networks.

The programme will also reinforce South Africa's data sovereignty, with partners such as the Council for Scientific and Industrial Research and South African Radio Astronomy Observatory ensuring that data is managed ethically and in full compliance with the Protection of Personal Information Act.

Importantly, the programme is designed to be inclusive. It invests in human capital development, with a strong focus on historically disadvantaged institutions and young black female researchers who are receiving specialised training in genomics and data science. In doing so, it promotes transformation, broadens participation, and strengthens the foundations for sustainable innovation across the continent.

The initiative further promotes Pan-African collaboration, positioning South Africa as a continental leader in genomics and precision health. It also stands as a shining example of science diplomacy in action - demonstrating what can be achieved when public institutions and global industry leaders unite around a shared mission to improve lives through science.

This partnership directly responds to South Africa's Science, Technology and Innovation Decadal Plan (2022-2032), which calls for large-scale innovation programmes in health. It supports the national vision of strengthening local intellectual capital, enhancing data ecosystems, and expanding research infrastructure to benefit future generations. The collaboration embodies the Decadal Plan's goals to modernise key sectors, build human capabilities and foster an enabling environment for innovation.

It also addresses the Societal Grand Challenges identified in the Decadal Plan, particularly the future of society and the ethical use of artificial intelligence. By generating high-quality, contextually relevant genomic datasets, the initiative is laying the groundwork for equitable health solutions, earlier diagnosis and targeted treatments that reflect the diversity of South Africa's people.

As Dr Tenza emphasised, this initiative is not just about data or technology but people. It is about ensuring that every South African, regardless of background, benefits from the advances of modern science. It is about building trust, fostering resilience, and shaping a future where innovation serves the public good.

Ms Glaudina Loots, Director: Health Innovation at the DSTI, said, "This programme reflects our commitment to scale home-grown innovation and empower African-led research. The resulting genomic reference resource will guide disease surveillance, clinical decision-making, therapeutic development and preventive health strategies, particularly for historically underserved communities."

Prof. Ntobeko Ntusi, President and CEO of the SAMRC, said, "This Programme represents a historic investment in South Africa's scientific future. For too long, African populations have been insufficiently represented in genomic research, limiting global understanding of disease and response to treatment. Through the 110 000 Human Genome Programme, South Africa will lead in generating knowledge that is inclusive, locally relevant and transformative for public health."

The programme will begin with a pilot phase of 10 000 genomes, drawing from existing longitudinal research cohorts across the country. This phase will establish the National Genome Archive, data pipelines and scalable analysis frameworks to support advanced genomic science, innovation and health system integration. It will foster institutional partnerships with all relevant South African entities that have the necessary infrastructure to transition genomic research to scale.

Dr Rizwana Mia of the SAMRC, Programme Lead, explained, "at the heart of this programme is data sovereignty and capacity-building. Our goal is not only to generate genomic data, but to train local scientists, strengthen national infrastructure, and ensure that South African communities benefit directly from scientific discovery. This is about positioning our country as a leader in genomic medicine."

Mr Gregory Essert, General Manager of Emerging Markets at Illumina, said that "at Illumina, we are driven by the power of genomics to transform lives and improve global health. We are excited to support this pioneering programme in the country, which will expand scientific knowledge, advance precision health and help ensure African populations are represented on the global genomic stage. The SAMRC's commitment to drive progress in genomics across the country is inspiring, and we are proud to be part of this journey."

Dr Swaroop Aradhya, Vice President of Medical and Scientific Affairs at Illumina, said that the company remained "dedicated to fostering sustainable partnerships, building genomic datasets for diverse populations, and data sovereignty in Africa, ensuring that genomic research innovations benefit local communities and contribute to global scientific and healthcare advances."

For more information contact Zama Mthethwa at 082 808 3956 or This email address is being protected from spambots. You need JavaScript enabled to view it.

Issued by the Department of Science, Technology and Innovation.

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