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Cutting-edge DNA sequencing technology for SA

A facility in South Africa is building capacity to enable next generation sequencing (NGS) – touted by the WHO as being critical to the future of healthcare – expanding opportunities for the medical profession to diagnose, relatively cheaply, rare diseases in local patients, for instance, while providing top quality data.

The Genomic Platform of the South African Medical Research Council (SAMRC) was created in 2019 and provides local access to the technology required to enable precision medicine through genomics, the study of the genetic information of organisms, which attempts to understand the impact of this genetic information on other biological processes.

Organisms from the same species have DNA that is nearly identical, with humans sharing 99.9% of their DNA. But there are some differences in the DNA of organisms of the same species that result in individuality, reports News24.

This genetic individuality influences observable characteristics such as eye colour, but it can also impact things such as ability to process certain drugs or susceptibility to certain diseases.

“Genomics advances public health through the surveillance of pathogens, the provision of tools for medical care (in the prevention, diagnosis, management, treatment, and monitoring of disorders and diseases), and the improvement of food production,” said the WHO’s Scientific Council.

In 2021, the WHO’s director-general formed the council to advise on what its scientific agenda should be. The subject of its first report was genomics, with a series of recommendations to “promote the adoption or expanded use of genomics”, suggesting measures be taken to ensure the technology was rolled out worldwide.

An African solution

In 2019, the SAMRC launched a genomic platform capable of performing next-generation sequencing.

“What usually happened when researchers wanted to do next-generation sequencing is they would have collaborators overseas with US service providers – the samples would get collected in-country and be shipped out to overseas service providers,” said Professor Craig Kinnear, director of the genomics platform.

“So, the idea was to have something in-country that researchers can access."

The goal of the platform was to produce something that could be used “quite cheaply”, while producing “good quality data”.

The platform performs sequencing work for clients, performs its own research with the technology, promotes the expansion of capacity of genomics facilities in South Africa and helps diagnose patients who have rare diseases.

As one of the few genomics centres on the continent, the facility was keen to apply the technology to African concepts, said Dr Nadia Carstens, the platform’s laboratory manager, who added that most big research groups and universities in more developed countries used the technology, but the same was not true in Africa.

“African researchers are not using this technology to its full potential – not fully integrating it into their workflows.”

She said it was important the NGS was developed for “our specific issues, questions, and budgets”.

The centre would also be sequencing 500 African plant species to help provide a basis for using traditional medicine to treat diseases.

Precision medicine

Carstens said there was a movement towards precision medicine, which focused on tailoring patients’ treatment to their specific disorder or subtype, and that next-generation sequencing technology had come far.

"Things that took three decades to do can now be done in two weeks.”


News24 article – Unravelling the mystery: SA builds capacity for cutting-edge DNA sequencing technology (Restricted access)


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Novel gene-sequencing probes to investigate ‘elite controllers’


SA team devises cost-effective genetic breast and ovarian cancer screening


New study provides more precise data on gene mutations


Home genetic testing kits may deliver ‘wrongly reassuring’ results





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