Genetics is a great way of doing biology but biology is not synonymous with medicine

May 24, 2012




Bert Vogelstein and colleagues published a really nice paper in Science Translational medicine a little while back. This week, there is some correspondence about the paper, and Vogelstein’s responds. Essentially the Vogelstein paper suggested that whole genomic sequencing rather than being the next big thing for medicine, might have a very limited role. I think there are lots of reasons for thinking Vogelstein is right and of course the message should get more attention because it comes from somebody who more than anybody wrote the history of human cancer genetics (note I published a paper with him way back and I suspect it was one of my highest cited papers and one of his lowest).

Genetics is a great way of doing biology but biology is not synonymous with medicine, and it is sad that many in the biomedical community have either deluded themselves or behaved even worse when hyping the likely clinical import of so much medical research over the last 2 decades. In response to one of his critics Vogelstein uses a lovely metaphor:

Dr. Topol implies that WGS will be the dominant determinant of patient care and that additional sequencing studies will prove this to be correct. An analogy might help to put our differing approaches into perspective. Suppose one wanted to cross the Sahara desert in an automobile. Our approach would be to model the journey by calculating the distance one could travel, by using parameters such as miles per gallon, road conditions, gas tank capacity, etc. In contrast, Dr. Topol’s approach would be to have someone drive through the desert and see how far he was able to go. Both approaches have value, but we feel that the modeling approach can provide information that might prevent the driver from getting stranded in the middle of the desert.

This argument deserves far more attention across many areas of medical research. Modelling — whether on the back of the envelope beloved of Enrico Fermi through to more formal mathematics — is undervalued. Approximate answers are often all we need and often much cheaper. It is just that sometimes they consume less resource and in our topsy-turvy research world are therefore thought of less value.

Post by Jonathan Rees

Clinical academic and skin watcher at the University of Edinburgh

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