Metabolomics and Personalized Medicine

An organism’s metabolome is all of its metabolites and metabolic processes—in other words, all of the chemicals that come out of it (like urea, carbon dioxide, and progesterone) and all of the biochemical reactions that produce those compounds. It’s one of those words that scientists concocted out of thin air because they fancy themselves clever lexicographers. But it’s a powerful concept and one of the keys to the future of personalized medicine.

A Canadian group recently published what they termed as a first draft of the human metabolome, and there’s a whole article devoted to the subject in a recent issue of Nature. The power of metabolomics lies in its usefulness as a diagnostic tool. As I like to say, you can tell a lot about the health of your body by examining what comes out of it. Metabolomics could potentially provide a means for a very detailed inspection of your body’s by-products.

The Nature article provides a couple of working examples. First, researchers are able to predict which rats will develop liver problems from taking a certain drug by testing the metabolites in their urine. Another group of researchers has developed a profile for blood metabolites associated with pre-eclampsia in pregnant women. These two cases are just the tip of the iceberg. Eventually, researchers would like to be able to asses a myriad of conditions and risk factors with a simple blood panel or urinalysis.

But that’s just the beginning. With the advent of individual genome sequencing, which is no more than a decade away, doctors will be able to associate causes with risk factors. “Your latest urine sample shows an increased risk for heart disease,” your doctor might tell you, “because you’ve got a mutation in your XYZ gene.” She could then go on to prescribe a biochemical cocktail tailored to your unique biochemistry.

There are hurdles to achieving this vision, of course. One of the biggest is the simple fact that a person’s metabolites vary dramatically depending on time of day, last meal, and a number of other variables. Moreover, metabolic profiles are likely to vary even more dramatically between individuals, making it difficult to assess risk factors. This means that giving urine will become part of a routine doctor’s visit, so that a patient’s metabolic profile can be tracked over his lifetime.

It will also be difficult to identify and scientifically validate risk factors and profiles associated with disease, but these efforts are already underway. Researchers are turning out mountains of data and developing techniques for making sense of all, leading us toward a future where medicine is very personal indeed.

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