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MEDICINE A new diagnostic tool could mean spotting diseases earlier and more easily. By Corie Lok
In their quest to develop more-accurate medical diagnostic tests, researchers are turning to a new field called metabolomics -- the analysis of the thousands of small molecules such as sugars and fats that are the products of metabolism. If metabolomic information can be translated into diagnostic tests, it could provide earlier, faster, and more accurate diagnoses for many diseases.
Doctors have been measuring a few metabolites for decades to tell what's wrong with patients; glucose for diabetes is a familiar example. Metabolomics researchers, however, sort through hundreds of molecules to tease out a dozen or so that can serve as the signature of a particular disease. "We're hoping that many diseases will have metabolic fingerprints that we can measure," says Maren Laughlin, codirector of a new National Institutes of Health (NIH) metabolomics initiative. Initially, metabolic researchers are hunting for the signatures of conditions such as autism and Huntington's disease.
Metabolomics is, in some ways, a natural offshoot of recent advances in genomics and proteomics, which have allowed researchers to begin to identify many of the genes and proteins involved in diseases. Now researchers are realizing that they need to study metabolites in the same systematic fashion to get a complete picture of the body's processes. And new software and increasingly powerful computers are helping them do it.
A few small companies aim to have their metabolite-based diagnostic tests on the market within several years. Metabolon of Research Triangle Park, NC, for example, is working with Massachusetts General Hospital to look for metabolic markers for amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, for which there's no definitive blood test. To determine ALS's biochemical profile, the researchers analyzed more than 1,000 molecules in patient blood samples. Using new software to sift through the mountains of data, they found 13 chemicals that showed up consistently at high levels in ALS patients. If larger human trials confirm this 13-chemical profile to be an accurate ALS indicator, it could form the basis of a quick and easy blood test for the deadly disease. Another company, Phenomenome Discoveries of Saskatoon, Saskatchewan, is developing metabolite-based diagnostics for Alzheimer's disease and bipolar disorder.
There are drawbacks to using metabolites as disease markers. Their concentrations tend to fluctuate, since they're heavily influenced by diet; doctors will therefore need to make sure samples are taken from patients under the proper conditions. But that's true of many existing diagnostic tests, says Arthur Castle, the other codirector of the NIH metabolomics initiative. Metabolites may also prove not to be the best markers for every disease; in some cases, analysis of proteins may give a more reliable diagnosis. But metabolomics will give researchers a more comprehensive look at the complex changes under way in hundreds of molecules as a disease begins to develop -- which can't help but add to our store of medical knowledge.