In one test, Metabolon's advanced metabolomics platform will identify IEMs that would ordinarily require many different tests and define biochemical pathway errors not currently detected by routine clinical or genetic testing. Metabolon will provide that data to the Department of Molecular and Human Genetics at Baylor to aid in the interpretation and assessment in the context of genetic disorders.
“Baylor and clinicians around the world are currently screening patients using two, five or even 10 biochemical tests that often require shipment to many different labs to determine whether a patient might have a metabolic disease,” commented Arthur Beaudet, M.D., professor of molecular and human genetics at Baylor. “Global MAPS will provide us with a single test that can assist in the diagnosis of a broad range of disorders and recognize new IEMs never before described.”
The Global MAPS test has already been combined with exome sequencing to make novel discoveries, as described in a recent Baylor Exome Sign-out Conference available here.
IEMs are inherited metabolic disorders that prevent the body from converting one chemical compound to another, or from transporting a compound in or out of cells or from one cellular compartment to another. These processes are necessary for essentially all bodily functions. Most IEMs are caused by defects in the enzymes that help process nutrients, which result in an accumulation of toxic substances or a deficiency of substances needed for normal body function. Making a swift, accurate diagnosis of an IEM and prescribing the appropriate diet or medication are critical in preventing brain damage, organ damage, and even death. While there are several hundred recognized IEMs, state public-health programs only screen for about 40 disorders or fewer at birth, according to the National Institutes of Health.
“We believe that metabolomics is particularly well-suited for IEMs,” said John Ryals, Ph.D., president and CEO of Metabolon. “Our ability to zero in on patient-specific metabolic disturbance and identify biomarkers might help physicians make a diagnosis more rapidly and also guide long-term clinical management with follow-up monitoring. This collaboration is an important first step in establishing Metabolon’s personalized medicine initiative. In addition to IEMs, metabolomics could have clinical value for screening, monitoring and treatment of a wide range of illnesses.”