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ABSTACT Introduction: Metabolomics, one of the most high-promising technologies, is the most recently developed post-genomics discipline for developing new diagnostic tests for future implementation in medicine. More than 2,000 scientific papers, using mass spectrometry-based (MS-based) metabolomics analysis for human disease diagnostics, have been published during the past two decades, and almost every metabolomics study shows high diagnostic accuracy. However, despite the great results and promising perspectives, there are currently no diagnostic tests based on metabolomics that have been approved and introduced into clinics. Areas covered: In this report, the advantages and challenges of MS-based metabolomics are discussed with a focus on its developing role in diagnostics, and the current trends in implementing metabolomics diagnostics in the clinic. Expert opinion: In the development of new clinical diagnostics tests, MS-based metabolomics has potential as both a preliminary discovery base for routine testing and a multi-test prototype, which is hoped to be introduced into clinical practice in the near future. A laboratory-developed test (LDT) is one possible way that multi-testing could be developed.

Background: In metabolomics, thousands of substances can be detected in a single assay. This capacity motivates the development of metabolomics testing, which is currently a very promising option for improving laboratory diagnostics. However, the simultaneous measurement of an enormous number of substances leads to metabolomics data often representing concentrations only in conditional units, while laboratory diagnostics generally require actual concentrations. To convert metabolomics data to actual concentrations, calibration curves need to be generated for each substance, and this process represents a significant challenge due to the number of substances that are present in the metabolomics data. To overcome this limitation, a label-free standardization algorithm for metabolomics data is required. Results: It was discovered that blood plasma has a set of stable internal standards. The appropriate usage of these newly discovered internal standards provides a background for the label-free standardization of metabolomics data that underlies the SantaOmics (Standardization algorithm for nonlinearly transformed arrays in Omics) algorithm. In this study, using the knee point, it was shown that the metabolomics data can be converted by SantaOmics into a standardized scale that can substitute actual concentration measurements, thus making the metabolomics data directly comparable with each other as well as with reference data presented in the same scale. Conclusion: The developed algorithm sufficiently facilitates the usage of metabolomics data in laboratory diagnostics. [ABSTRACT FROM AUTHOR]

The dried blood spot (DBS) sampling has a lot of advantages in comparison with the "standard" venous blood collecting, such as small collection volume, painless and easy sample collection with minimal training required, stable and transportable at ambient temperatures, etc. The aim of this study was to determine the comparability of four different types of DBS sampling (HemaSpot™-HF Blood Collection Device, Whatman® 903 Protein Saver Snap Apart Card, card ImmunoHealth™, and glass fiber strip ImmunoHealth™) for analysis of the global metabolites profile. All the samples were collected from the same person at the same time and stored at room temperature for four weeks in order to exclude all possible deviations deriving from biological variances and to evaluate sample storage stability. Metabolome profiling by direct injection of a deproteinized capillary blood DBS sample into an electrospray ion source of a hybrid quadrupole time-of-flight mass spectrometer was used. Differences in the metabolomics profile were found between the different DBS collection materials, especially for ImmunoHealth™ card and ImmunoHealth™ glass fiber strip. However, our results indicate that the analytical performance of all tested DBS sampling materials showed consistent results overall detected metabolites and no dramatic changes between them in the metabolic composition during the storage time. [ABSTRACT FROM AUTHOR]