Precision Medicine

Precision Medicine, Made Possible with Metabolomics

Traditionally, most medical interventions follow the one-size-fits-all approach, have been designed for a “typical” patient, and have been codified in treatment guidelines. Such strategies may be successful in some individuals while others will draw no benefit from them. By contrast, precision medicine considers differences in people’s genomes, environments, and lifestyles to tailor disease prevention and treatments. Thus, the most appropriate targeted therapy is delivered to the right patient at the correct time, which is the goal of precision medicine. Additionally, a patient’s ability to tolerate or respond to a therapeutic intervention (medicinal and nutritional) can be characterized and the information utilized to optimize the effects of these interventions. Despite continuous progress and many success stories, many in the field of oncology, broad implementation of precision medicine in practice is missing.

Human Disease Phenotypes are Very Complex

To deliver a precision medicine-based approach, one must be able to identify biomarkers associated with a specific disease phenotype. Deciphering genomes behind phenotypes is one way of identifying targets of interventions. However, the existence of a striking number of genetic variants, variable penetrance of known genetic variants, and polygenic etiologies make pinpointing relevant genetic abnormalities very difficult. Extra-genome (microbiome, epigenetics, environment, and lifestyle factors) influences on phenotypes also need to be considered.

Is there a relatively easy way of deconvoluting complex phenotypes underlain by multiple factors? Metabolomics may be the answer.

Metabolomics as an Enabling Tool in Precision Medicine

The metabolome comprises the complete set of small molecules (metabolites) present in the body. Metabolomics, the technology for surveying the metabolome, should be viewed as a high-resolution phenotyping method given that it appraises metabolites deriving from all physiological, pathological/endogenous, and exogenous processes that take place in an organism. Metabolites vary between health and disease and can act as disease biomarkers and characterize a patient’s response to treatment.

Metabolon provides tools to comprehensively study the metabolome and uses proprietary metabolomics technology that has been shown to be successful at detecting inborn errors of metabolism and rare diseases.

Potential Insights in Precision Medicine from Metabolomics

Metabolic signatures obtained via global metabolomics can provide predictive, prognostic, and diagnostic biomarkers, help dissect the underlying molecular mechanisms of diseases, study links between microbiota and the host organism, guide classification of diseases and stratification of patients, provide biomarkers of drug response, safety, and interactions (pharmacometabolomics) in clinical trials. It is hoped that metabolomics will help define a metabotype for each specific genotype, offering a functional read-out for the many genetic variants of unknown significance, and provide a way to monitor the remission/relapse status in chronic disease.

See how Metabolon can advance your path to preclinical and clinical insights

Amino Acids Targeted Panel

Amino acids (AA) are the foundational building blocks for peptides and proteins. These small molecules regulate metabolic pathways that are involved in cell maintenance, growth, reproduction, and immunity. Branched chain amino acids play a large role in building muscle tissue and participate in increasing protein synthesis. Amino acids also play a role in cell signaling, gene expression and protein phosphorylation. Maintaining an optimal balance of amino acids is vital to maintaining a stable equilibrium of physiological processes.
Amino Acids Targeted Panel
Beta-Hydroxybutyrate Single Analyte Assay

Beta-Hydroxybutyrate Single Analyte Assay

β-Hydroxybutyrate (BHB, 3-hydroxybutyrate) is an endogenous ketone body that accumulates during periods of fasting, calorie restriction and prolonged exercise. It is created via a multi-step process involving the break-down of fatty acids into acetyl CoA, conversion to acetoacetate and reduction to β-hydroxybutyrate in the liver. BHB is the primary ketone found in the blood and is necessary for brain function especially when glucose is unavailable. It also provides neuroprotective benefits, such as relieving oxidative stress and inhibition of apoptotic pathway in cells.

Bile Acids Targeted Panel

Bile acids are derived from cholesterol and serve an important role in emulsifying and digesting lipids. In addition, their metabolism is intimately involved with the microbiota, and they have been shown to exhibit endocrine and metabolic activity via receptors like FXR and TGR5. The Bile Acids Targeted Panel measures all the major human and rodent primary and secondary bile acids as well as their glycine and taurine conjugates.
Bile Acids Targeted Panel
C4 Single Analyte Assay

C4 Single Analyte Assay

7-α-hydroxy-4-cholesten-3-one (C4) is an intermediate in the biosynthesis of bile acids from cholesterol. The precursor to C4 is 7α-hydroxycholesterol which is produced from cholesterol via the hepatic enzyme, 7α-hydroxylase. 7-α-hydroxylase catalyzes the rate-limiting step in bile acid synthesis and its activity is tightly regulated via the FXR receptor. Measurement of the stable metabolite C4, a product of the next oxidative enzymatic reaction after 7-α-hydroxylase, is reflective of hepatic de-novo bile acid synthesis and FXR receptor activation. Bile acid malabsorption is associated with a variety of gastrointestinal pathologies (eg, irritable bowel syndrome, ileal disease) and is characterized by elevated serum C4 levels.

Central Carbons Targeted Panel

Central carbon metabolism involves the enzymatic conversion of sugars into metabolic precursors that are used to generate the entire biomass of the cell. The metabolites in this panel include key citric acid cycle compounds that connect carbohydrate, fat, and protein metabolism. In addition to supplying key metabolic precursors, central carbon metabolism is used to oxidize simple sugar molecules obtained from food to supply energy to living systems. Measurement of central carbon metabolites has great industrial relevance since it may allow the engineering of selected metabolic steps to optimize carbon flow toward precursors for industrially important metabolites.
Central Carbons Targeted Panel
Impaired Glucose Tolerance Targeted Panel

Impaired Glucose Tolerance Targeted Panel

Impaired Glucose Tolerance is a prediabetic state of hyperglycemia that is associated with insulin resistance and an increased risk of cardiovascular pathology (Barr, 2007). The condition occurs when blood glucose levels remain high for an extended period after oral ingestion of glucose but not high enough to be diagnosed as type 2 diabetes.

Impaired Glucose Tolerance can be assessed with a single fasted blood draw by measuring a panel of selected metabolites comprised of two small organic acids (α-hydroxybutyric acid (AHB) and 4-methyl-2-oxopentanoic acid (4MOP)), 2 lipids (oleic acid and linoleoyl glycerophosphocholine (LGPC)), a ketone body (β-hydroxybutyric acid (BHBA)), an amino acid (serine), a vitamin (pantothenic acid (vitamin B5)), and glucose.

Insulin Resistance Targeted Panel

Insulin resistance is a critical pathophysiological state underlying several chronic conditions, including type-2 diabetes, cardiovascular disease (CVD), hypertension, and polycystic ovarian syndrome. Insulin resistance is evident when glucose builds up in the blood stream instead of being absorbed by the body’s cells. It is a result of a diminished response to the hormone insulin at the whole body, organ, or cellular level.

A panel of biomarkers comprised of a small organic acid (α-hydroxybutyric acid (AHB)), 2 lipids (oleic acid and linoleoylglycero-phosphocholine (LGPC)) and insulin identifies insulin resistance with a single fasting blood sample and may have value as an early indicator of risk for the development of prediabetes and type-2 diabetes.

Insulin Resistance Targeted Panel
Metal Analysis Targeted Panel

Metal Analysis Targeted Panel

Metabolon’s ICP-MS-based Metal Analysis Targeted Panel provides precise measurements of biologically important metal ions in biological samples. In addition to the well-established problems of toxicity associated with several metals, the vital role these ions play in a variety of biological pathways whether by catalyzing enzymatic reactions or stabilizing protein structures is still becoming clear. Intimately intertwined with the proteome and metabolome, metal ions represent an intrinsic piece vital to the holistic understanding of biological phenomena ranging from development through normal functioning to disease. Without an understanding of the role of these metals, a complete understanding of biological processes is not possible. The Metal Analysis Targeted Panel measures a variety of metals ions ranging from the macro level (ppm) including Na, K, and Ca to the micro level (ppb) including Mo, Cu, and Ni.

Metabolon in Action

Impact of Probiotic Supplementation on Low Bone Mineral Density (BMD)

Metabolomics identified several potential biomarkers that link changes in the gut microbiota to changes in the bone metabolism of aging women.

Read the Case Study

Interested in Further Studies?

Why Metabolon?

Once you see the full value of metabolomics, the only remaining question is who does it best? 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. Also, translating massive quantities of data into actionable information is slow, if not impossible, for most because proper interpretation takes two things that are in short supply: experience and a comprehensive database.

Only Metabolon has all four core metabolomics capabilities

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Coverage

Ability to interrogate thousands of metabolites across diverse biochemical space, revealing new insights and opportunities

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Comparability

Ability to integrate the data from different studies into the same dataset, in different geographies, among different patients over time
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Competency

Ability to inform on proper study design, generate high‐quality data, derive biological insights, and make actionable recommendations
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Capacity

Ability to process hundreds of thousands of samples quickly and cost‐efficiently to service rapidly growing demand

Partner with Metabolon to access:

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A library of 5400+ known metabolites, 2000 in human plasma, all referenced in the context of biochemical pathways

  • That’s 5x the metabolites of the closest competitor
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Unparalleled depth and breadth of experience analyzing and interpreting metabolomic data to find meaningful results

  • 10,000+ projects with hundreds of clients
  • 2,000+ publications covering 500 diseases, including numerous peer-reviewed journals such as Cell, Nature and Science
  • Nearly 40 PhDs in data science, molecular biology, and biochemistry

Using our robust platform and visualization tools, our experts are uniquely able to tell you more about your molecule and develop assay panels to help you zero in on the results you need.

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Request a quote for our services or more information on sample types and handling procedures, need a letter of support, or simply have questions about how metabolomics can advance your research.

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