Genetic research ‘necessity not luxury’ in South Africa

Genetic research in South Africa is “a necessity rather than a luxury”, because of risks of hereditary diseases, warns a leading researcher there.

Repeated immigration has made South Africa a melting pot of ethnic groups with different genetic profiles, says Raj Ramesar.

Ramesar, director of the Human Genetics Research Unit at South Africa’s Medical Research Council, was speaking at the launch yesterday (15 September) of a report on research into genetic diseases affecting South Africans.

The Africa Genome Education Institute commissioned Di Caelers, a health journalist at the Cape Argus newspaper, to communicate this aspect of science to ordinary people.

“The change in African lifestyles from subsistence to ‘Western’ has also led to interesting possibilities of unravelling the interaction between genetic and environmental influences,” Caelers notes.

Ramesar described South Africans — whom for years previous governments separated and isolated along racial, linguistic and cultural lines — as “living inventories”.

For example, it is believed that in 1688 a Dutch orphan sent to South Africa to marry an early settler brought the mutant gene that causes porphyria variegata — a blood disorder that has since spread widely.

Discovering this mutation led to a simple blood test that tells if children have inherited the condition, which can cause paralysis, skin sensitivity in sunlight, and death.

“If we unpack our pasts, we will also be unpacking our health risks,” says Lynne Smit of the Africa Genome Education Institute.

Another gene, linked to many young people in an isolated village developing colon cancer, was traced back 18 generations. Now scientists know which residents might be susceptible to the disease, and should be regularly screened for it.

Genetically triggered high cholesterol became common among the Afrikaans-speaking population of South Africa — about one in 75 of them has it — after the disease arrived with a Huguenot couple fleeing religious persecution in France hundreds of years ago.

The report ‘Genetically-inherited diseases among the South African population — another dimension of our heritage‘ also covers other diseases, such as cystic fibrosis and sickle cell anaemia.

For many South Africans, the answers that genetic research promises “cannot come fast enough”, says Caelers, noting that the developing world does not have the money to diagnose or manage severe genetic disorders.

According to the World Health Organization, 90 per cent of the 7.5 million children born every year with severe genetic malformations are in mid- to low-income countries.