Monday, May 03, 2010

COMPLETE GENOME SEQUENCING AND INTEGRATED ANALYSIS ; LANDMARK BREAKTHROUGH IN MEDICINE

We have always known that our genes carry all the information about us. We are particularly interested in the medical information carried in our genes. It will not only tell us who we are and where we come from, but also our makeup, our susceptibility to disease like heart disease, sudden cardiac death, cardiomyopathies, our response to medication ( pharmacogenomics ) and susceptibility to side effects.
Well, this blog is prompted by the landmark sequencing of the complete genome of a human by the genome team in Stanford University School of Medicine. Dr Euan Ashley and team from the Center for inherited Cardiovascular Disease, published an article in the May 1st issue of Lancet entitled, "Clinical assessment incorporating a human genome." They sequenced completely, the genome of Mr Stephen Quake, and discivered that he has a greater then 50% likelihood of developing heart disease and some types of cancers. It must have cost him about USD 20K to have the sequencing done and more for the integrated analysis. It maybe that at the moment, the cost of completely sequencing your genome and completely analysing it will set you back about USD 50K. Obviously, with time and more demand, the cost will go down, maybe to USD 10K each. Is that information worth the money?
I suppose, each of us, with our wealth, may see it differently. I can see that one area perhaps, that it maybe useful, and already undergoing much research is pharmacogenomics. Much work is now being done, to see who will benefit from which drug, in our large armanterium of drugs, say for treatment of hypertension. Rather that using a trial and error approach, could we be more specific and choose the drug with the best efficacy for each individual and also with the least likelihood of any edverse reaction.
Whatever it is, looks like medicine has arrived at an important threshold and we who have graduate from Med school in the seventies have much catching up to do, to learn about this whole new field of "genome-logy", if I may be allowed to coin a term.
I suppose, this advance is good for our patients, and so it is good.

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