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Africa, where the magnificence of science falls short
Our Genes
Written by Dr Wilmot James   
Tuesday, 08 April 2008 16:53
Ivan Toms, a victim of meningitis
Ivan Toms, a victim of meningitis

Eric Lander is a Professor of Biology at the Massachusetts Institute of Technology and the Director of its world renowned Broad Institute. He was one of the key scientists involved in the human genome project. He fought very hard to make human genome DNA information available to science and health professionals. Time Magazine named him one of the 100 most influential people of our time.

A confident and affable person, Lander, sitting in his office in a magnificent building, tells me that biologists have mastered the science of mapping every gene in the human body. We think that we have about 26,000 genes, but we are not sure. The science community has mapped about 20 per cent of the genes. Every day, more and more are being discovered.

The science community now maps genes faster and cheaper. For Lander what is important is to map genes in order to have better health, to create tools for what is known as ‘genome medicine’, which is to use the understanding of the association between genes and disease to develop better biomedical interventions.

Along these lines, Lander’s group discovered important explanations as to why some people and not others are at risk of adult diabetes. They have used family studies to identify the genes in diseases like inflammatory bowel disease. Perhaps his most important work will be to understand how genes shape different responses cancer patients have to chemotherapy.

It is just a matter of time (and effort, brains, technology, money) before the science community will be able to say what every gene in the body does, either on their own or in combination with others. It will be possible then to screen every person for every possible disease and develop medical interventions just for him or her. This then is the age of predictive, personalised medicine.

Much if not all of this extraordinary work has been done in the north, in the USA, Europe, Japan and Singapore. They have tended to focus on the diseases of the north like cancer, associated with having older populations. Wealthier by far compared to the people of the south, many of their better off citizens have been able to afford the new diagnostic applications and individualised genome treatments.

Will the revolution in medicine make any difference to the people of the south? It is a question of affordability. Genome based diagnosis and treatment will do doubt feature in clinical practise of the private health care system. How much of it will penetrate public health care depends on state investment in genomics and our Department of Health has not taken a lead in this direction.

When he was president of the Medical Research Council, Malegapuru William Makgoba created an infrastructure for this type of work but, since then, it has regrettably not been scaled up to a level of sophistication our medicine deserves. Of course, our burden of disease are with infectious ones like HIV, Malaria and Tuberculosis and the question is what differences genomics can make here.

For one thing, genomics can be used to predict the responses of individuals to drug treatments and help in no small measure to calibrate more effective individual treatments. Indeed, a great deal of work is currently being done on extensively drug resistant tuberculosis in a joint project involving MIT and the University of the Witwatersrand using the most sophisticated genomics tools available.

The tragic death of my dear friend and colleague Ivan Toms shows how our health problems are far more basic. He died after receiving a lethal infection from a bacterium called meningococcus. It is best known for its role in meningitis. It only infects human as it has no animal reservoir. It is the only form of bacterial meningitis known to cause epidemics. It attacks the brain and can kill you in four hours.

Vaccines are available to deal with most, not all, of the current strains around. Menactra® is one licensed for individuals 11 to 55 and Menomune® for people outside this age group and for travellers. A full genome sequence of miningococcus has been available for quite a few years now and was used to develop a vaccine for the B strain to control a recent epidemic outbreak in New Zealand.

Toms’ death was entirely preventable. Where were the emergency health warnings? Why are our health authorities fast asleep?

 

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