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Will genome mapping change medicine?

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Professor Jonathan Rees
Professor Jonathan Rees

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Professor Jonathan Rees - a professor of Dermatology at the University of Edinburgh, he identified the 'red hair gene' and is an expert on skin cancer. Professor Rees thinks that the Human Genome Project is being hyped in such a way as to mean that the results that do come from it might be disappointing.

What do you think of the claims made about the impact the human genome project will have on medicine?
If you're going to look at the impact of genetics on medicine you have to take a much longer term view than I think has been done already. I like to think of it that genetics is a great way of doing biology, but biology isn't the same thing as clinical medicine. You've got to remember that medicine is far more promiscuous in terms of its intellectual origins and the discovery base of clinical medicine than many people believe. Medicine takes advances from engineering, from computing science, from material science, from medicinal chemistry. Genetics is part of that, but of course most of the claims for genetics on medicine have been made by people with very much a genetics background, rather than a background within clinical medicine. Most of the claims are made by people who don't see patients in clinics.

Generally, I think people confuse DNA and genes with therapy and most of the people who are most enthusiastic about genetics seems to know very little about therapy or the history of drug development. Goldstein and Brown, who won the Nobel Prize for the first major genetic discovery, have a very nice comment relating to the Magritte painting where they say if you look at DNA sequence 'ce n'est pas un medicament'. DNA is not a drug.

Do you consider the research that has been done into the human genome to be at all useful?
What's been seen over the last 20 years has been the ability to do genetics in human biology, whereas previous to that genetics was largely concerned with model organisms, fruit flies and maize and so on. So there's been great enthusiasm for that approach. But of course just because you can do experiments doesn't mean that they're going to lead to the results that are going to have a big health impact. I believe we need to think of what are the clinical problems we are trying to solve, rather than be tempted into doing perhaps second rate scientific problems just because they're now doable.

On the other hand, one of the ironies is I think amidst all the hype about the human genome project there have been genuine clinical advances, clinical genetic discoveries that have got forgotten about. In one sense people are so concerned about hitting the big disease targets - cardiovascular disease and cancer - they've forgotten that some of the basic research and human genome research has had direct practical implications already. For instance there are many rare skin diseases which are fairly devastating - we already know now how to prevent some of these diseases, and we certainly know how to predict who's going to get those diseases. Although numerically this may be only a fraction of the population, to those individuals those discoveries are very important.

Similarly, if you think about cancer of the colon, we're able to predict who will get cancer of the colon within certain families. Now, that doesn't account for the majority of people who get cancer of the colon, but again, within those families, perhaps 1 or 2% of the individuals, these are very important discoveries and have already moved into clinical practice.

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