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Will genome mapping change medicine?

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Dr Bruce Charlton
Dr Bruce Charlton

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Dr Bruce Charlton - a clinical psychologist, whose interests include the nature of discoveries and breakthroughs in medicine. He thinks that genetics is eclipsing other important kinds of research in the biological sciences, and that the results of the Human Genome Project do not necessarily represent a significant medical breakthrough.

Could you explain the role of genetics in disease?
The role of genetics in disease is something that has to be established on a disease by disease basis, you can't really make a general statement about genetics as the cause of the disease. What's interesting though is that many of the most effective treatments of disease have not depended upon genetics, for example antibiotics, the use of steroid hormones and many other breakthroughs didn't depend on it.

Will the human genome project transform medicine?
When people claim that genetic research is somehow more fundamental than any other kind of biological research, it's a very arrogant kind of claim. There is a certain vaguely biological plausibility for it, but it's certainly not the most fundamental type of research in terms of medical progress. In any case, you're talking about a long term strategy, something that doesn't have immediate payoffs. If you're actually interested in getting treatments within the next decade or two, then you must have much more direct research projects which are actually trying to get breakthroughs in patients.

An example is the AIDS epidemic, a new kind of disease. The standard establishment view was that fundamental science in labs was going to provide the breakthrough in the treatment of AIDS. In fact AIDS is now a curable disease, using drugs that already existed when AIDS was first discovered, but using them in new ways and new combinations, so that a cure for AIDS was produced in as little as 10 years, under the pressure of the AIDS activists groups, not actually under the pressure of scientific researchers.

So is there too much focus on genetics at the moment?
I've got nothing whatsoever against genetics as an approach to biology, it's clearly a very valid and important approach. The problem is that it's coming to monopolise all resources, all prestige and all power within biology and medicine, therefore other approaches are not being pursued. One thing we do know from the history of medical innovation is that we don't know where the next breakthrough is going to come from, so it's vital to pursue as many different lines of research as possible.

How is research into genetics affecting pharmaceutical advance, finding treatment for disease?
It's not very well realised that almost every major drug that's used nowadays was actually originally designed and perhaps marketed for something quite different from what it's turned out to be used for. The most extreme example was aspirin, one of the oldest and simplest drugs in the pharmacopoeia, which in the 1980s was found to be the best drug for the prevention of heart attacks - a major breakthrough of the '80s was in a sense aspirin. Some people are saying that the major breakthrough of the next 10 years are the ace inhibitors, another drug which has been around for 20 years, used for the treatment of blood pressure and turns out to be fantastically good for preventing heart attacks.

Again and again it turns out that drugs that are already on the market are being used for new functions which are quite different. This happens because the human organism is so complex that we don't really know how it's going respond to an agent until we try it out on lots of different people in lots of circumstances. Another example: we expected the 1990s to be the decade in which human genetics and molecular biology was the great breakthrough in medicine. It didn't happen, it's been a tremendous disappointment.

What did actually happen in the 1990s is there were some new drugs, of which the most famous is Viagra, for impotence. How did the Viagra story happen? Here was a drug synthesised to be an anti-hypotensive agent for blood pressure, it ended up being used for the treatment of impotence and it wasn't even known that such a drug could exist. It happened by old fashioned ways of people closely observing patients. I don't think we've actually progressed to a point where we can drop that way of looking for innovations by close observation of patients and seeing how they react to drugs. And we're a long, long way away from the idea that we can get a gene sequence to predict exactly what effects modifications to the genes are going to have on the complex human organism.

What do you make of all the hype surrounding the human genome project?
The hype that surrounds the human genome project is essentially a form of advertising - it's to do with attracting funding into the area, it's not seriously to do with the science. It seems that sociologically people are forced to make claims about the medical importance of the kind of research they do in order to secure funding, they may even thoroughly resent having to make such claims, but certainly they do make them. They're simply playing a game and trying to present themselves in the most favourable light. So it shouldn't be taken seriously by anybody.

Is it difficult to defend yourself as a sceptic of the significance of genetic research?
The human genome project is an example of 'big science' in that it's very heavily funded and is run by extremely prestigious scientists in charge of large teams. These people have a great deal of influence within biology and medical research, with the result that their view carries a great deal of intrinsic weight. This means that anybody that disagrees with the claims that they make is put in the position of fighting against a very powerful establishment and is made to sound impertinent and implausible. In fact, such large claims as that the human genome project is going to have an immediate and powerful effect in improving medical treatment should be justified - they've not been justified and in fact they can't be justified by any normal criteria. Not to say they might, there's a small probability that things might work out like that, but none of the plausibility lies in that direction.

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