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Overcoming Challenges of Metabolomics

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Precision medicine and clinical metabolomics are major areas of research within metabolomics. Precision medicine helps to tailor products individually for patients by giving a detailed characterization of metabolic phenotypes that enable identification of underlying diseases. Clinical metabolomics allows companies to find biomarkers related to diseases, and to identify complex metabolic interactions.

To find out more about these areas and the challenges researchers face, we spoke to John Ryals, PhD, from Metabolon, a company that specialises in precision medicine through novel metabolomics-based clinical diagnostic tests. 

LS: What are some of the problems in metabolomics that scientists face

John Ryals (JR): Surveying metabolites is crucial to unlocking biology, because almost every factor impacting the phenotype exerts influence by altering metabolite levels. By identifying, quantifying and mapping all of the metabolites of a system under study, metabolomics can provide unique biological insight and empower biomarker discovery. 

While many laboratories have metabolite profiling or analytical chemistry capabilities, comprehensive metabolomics technologies are extremely rare. Accurate, unbiased metabolite identification across the entire metabolome introduces signal-to-noise challenges that very few labs are equipped to handle. Interpreting the huge quantities of data produced by this technology is extremely slow, if not impossible, for most.

LS: How does Metabolon help overcome these?

JR: Over the last 15 years, Metabolon has worked to develop technology and validated processes to overcome the “big data” challenge in global metabolomics. Our DiscoveryHD4 platform has about two million lines of software code that enable us to do what we do. DiscoveryHD4 is effectively an automated “metabolic sequencer” that unlocks critical information contained within the metabolome. It can quickly and accurately identify and quantitate upwards of 1,000 metabolites in a single sample with less than 5% process variability and is compatible with almost any sample type. This data is then imported into our informatics system for interpretation. The combination of data and interpretation tools provides a platform for creating knowledge that we call “precision metabolomics.”

LS: With precision medicine being a major area of research, what is Metabolon doing to contribute to this?

JR: Genomics is just one part of precision medicine. More and more, researchers and clinicians are exploring other ‘omes’ beyond the genome to find crucial biomarkers, identify new drug targets, and open up new avenues for understanding and treating disease. One of these areas is metabolomics, exploring the thousands of chemicals and processes that are created by metabolism.

When looking at metabolism, we are able to pick up really early stages of disease; one area that we focus on is chronic diseases related to obesity, such as type 2 diabetes, cardiovascular disease, liver failure and kidney disease. We can also look at the cause of undiagnosed diseases.

There is a physical manifestation to what is going on with a patient, and that is reflected in the patient’s metabolome. The phenotyping power of our technology makes it a valuable tool for understanding living systems and answers some of biology’s most challenging questions to improve health. Metabolomics is also being increasingly used to identify gene function, and it’s an ideal addition to population health studies.

LS: How does Metabolon help with clinical metabolomics in healthcare?

We began using our technology in the clinical space during the last few years. Most recently, in September 2016, we launched Meta IMD, which is a screening tool for inherited metabolic disorders. We can take a small plasma, urine or CSF sample from a patient and assess at least 65 different diseases with 100 percent sensitivity and specificity. We’ve also developed a number of LDTs that are used in the clinic. Quantose IR and Quantose IGT evaluate early-stage conditions associated with prediabetes, and accuGFR will soon be available as a test to help stage chronic kidney disease.

We’re beginning to move our technology into wellness and other disease areas, such as chronic fatigue syndrome, as part of our growing precision medicine business. Undiagnosed diseases are also of interest to us, because there are an estimated 60 million people in the U.S. who have an undiagnosed disease, and typically these are going to be a metabolic disorder.

John Ryals, PhD, President and CEO of Metabolon, was speaking to Louise Saul, Science Writer for Technology Networks.