SA lights a torch in the genomic revolution

"Africa should not be neglected in the genomic revolution," Michele Ramsay, chairperson of the South Africa Society for Human Genetics, says. 

Southern African populations have been found to be the most genetically diverse in the world, in research conducted by international researchers. But local scientists are trying to wrest the lead back from their international counterparts by running the Southern African Human Genome Project, which is sequencing 24 South Africans' genomes.

Genetics research is considered pivotal in understanding, diagnosing and treating the dual disease burden of infectious and non-communicable or lifestyle diseases in Southern Africa. Certain populations groups are genetically at greater risk from some diseases. These genetic traits also determine how people will respond to medicines.

"Southern Africa has unique and understudied populations," says Michael Pepper, director of the Institute of Cellular and Molecular Medicine at the University of Pretoria. He and Ramsay were driving forces in setting up the genome programme. "The region is poised to be a major contributor [to genetics research] … and provide useful information for the rest of the planet."

The programme, he says, aims to develop capacity for genomics research in South Africa, to translate genetics knowledge into improvements in human health, to contribute research to the origins of humans and to promote public education of genomics research.

The department of science and technology's director for biotechnology, Ben Durham, says: "We want to be able to safeguard, for our benefit, the genomic heritage that we have in Southern Africa."

Decline in genetic services 
However, although great strides have been made in genetic science, South Africa's genetic services have declined significantly, Ramsay says. 

A comprehensive review of its genetics services and testing, published in 2008, found that the country only had 10 geneticists for a population of 48-million people. The World Health Organisation, in 2006, recommended that genetic services be included in primary healthcare models, but South Africa's low  geneticist to population ratio means that this is not possible.

The department of health director general, Malebona Matsoso admits that genetic services had declined in the country. She says there is a great need for research and development in the South African health system. 

"In South Africa, we find the meeting of communicable and non-communicable diseases … How do you treat someone who is HIV positive but presents with diabetes, hypertension and has TB at the same time?" Matsoso asks.

Pepper says that genetics research could offer an opportunity: "There is no doubt that pharmacogenetics [the genetic differences that determine how patients respond to different drugs] will lead to personalised medicine once the information [on South African populations] is available."

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Sarah Wild
Sarah Wild is a multiaward-winning science journalist. She studied physics, electronics and English literature at Rhodes University in an effort to make herself unemployable. It didnt work and she now writes about particle physics, cosmology and everything in between.In 2012, she published her first full-length non-fiction book Searching African Skies: The Square Kilometre Array and South Africas Quest to Hear the Songs of the Stars, and in 2013 she was named the best science journalist in Africa by Siemens in their 2013 Pan-African Profiles Awards.

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