Clinical metabolomics: a pivotal tool for companion diagnostic development and precision medicine

Tolstikov, Vladimir; Akmaev, Viatcheslav R.; Sarangarajan, Rangaprasad; Narain, Niven R.; Kiebish, Michael A.

doi:10.1080/14737159.2017.1308827

Cited by 14 publications

(12 citation statements)

References 18 publications

(19 reference statements)

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“…DBS/DUS offers a high-throughput approach to the analysis of biofluid samples. Metabolomic analysis of biofluids, in particular blood and urine, allow for the analysis of particular metabolic perturbations that may be connected with an individual’s physiological, nutritional, and health status [ 5 , 8 , 21 , 32 , 33 , 34 , 35 ]. In the current study, we utilized the DBS/DUS capabilities of sample collection coupled with mass-spectrometry-based metabolomics analysis [ 30 ] to explore human blood and urine metabolomic profiling.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, metabolomic analysis is an important component of these exciting developments [ 32 , 33 , 35 ]. Metabolomics, as an essential part of multi-omics platforms, can deliver valuable information illuminating the complexity of environmental influence and population phenotype, as well providing a wealth of information for patient stratification and the support of guided clinical trials [ 34 , 35 ]. Herein, we examined the compatibility of the DBS/DUS approach with conventional blood/urine matrices using mass-spectrometry-based metabolomics protocols.…”

Section: Discussionmentioning

confidence: 99%

“…DBS/DUS metabolite stability at various storage temperatures and time points was also assessed. The DBS/DUS-HILIC-LC-MS/MS workflow development demonstrated the possibility of utilizing this metabolomics tool for the monitoring of population health and facilitating the creation of precision medicine datasets for diverse disease states and interventions [ 32 , 33 , 34 , 35 ].…”

Section: Introductionmentioning

confidence: 99%

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Integrated Metabolomics Assessment of Human Dried Blood Spots and Urine Strips

Drolet¹,

Tolstikov²,

Williams³

et al. 2017

Metabolites

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(1) Background: Interest in the application of metabolomics toward clinical diagnostics development and population health monitoring has grown significantly in recent years. In spite of several advances in analytical and computational tools, obtaining a sufficient number of samples from patients remains an obstacle. The dried blood spot (DBS) and dried urine strip (DUS) methodologies are a minimally invasive sample collection method allowing for the relative simplicity of sample collection and minimal cost. (2) Methods: In the current report, we compared results of targeted metabolomics analyses of four types of human blood sample collection methods (with and without DBS) and two types of urine sample collection (DUS and urine) across several parameters including the metabolite coverage of each matrix and the sample stability for DBS/DUS using commercially available Whatman 903TM paper. The DBS/DUS metabolomics protocols were further applied to examine the temporal metabolite level fluctuations within hours and days of sample collection. (3) Results: Several hundred polar metabolites were monitored using DBS/DUS. Temporal analysis of the polar metabolites at various times of the day and across days identified several species that fluctuate as a function of day and time. In addition, a subset of metabolites were identified to be significantly altered across hours within a day and within successive days of the week. (4) Conclusion: A comprehensive DBS/DUS metabolomics protocol was developed for human blood and urine analyses. The described methodology demonstrates the potential for enabling patients to contribute to the expanding bioanalytical demands of precision medicine and population health studies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Integrated Metabolomics Assessment of Human Dried Blood Spots and Urine Strips

Drolet¹,

Tolstikov²,

Williams³

et al. 2017

Metabolites

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“…Thus, where statistical powering is a key consideration in research metabolomics, clinical metabolomics is a true n‐of‐1 analysis. Untargeted clinical metabolomic profiling of individual patient samples has found early application in the screening of inherited metabolic diseases, but other uses, such as probing of undiagnosed cases for disease insights, as well as health and wellness screenings, have started to emerge …”

Section: Considerations For Metabolomics Applications In Research Andmentioning

confidence: 99%

“…Untargeted clinical metabolomic profiling of individual patient samples has found early application in the screening of inherited metabolic diseases, 26,37,64,65 but other uses, such as probing of undiagnosed cases for disease insights, as well as health and wellness screenings, have started to emerge. [66][67][68][69][70]…”

Section: Introductionmentioning

confidence: 99%

Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing

et al. 2018

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Metabolomics is the untargeted measurement of the metabolome, which is composed of the complement of small molecules detected in a biological sample. As such, metabolomic analysis produces a global biochemical phenotype. It is a technology that has been utilized in the research setting for over a decade. The metabolome is directly linked to and is influenced by genetics, epigenetics, environmental factors, and the microbiome—all of which affect health. Metabolomics can be applied to human clinical diagnostics and to other fields such as veterinary medicine, nutrition, exercise, physiology, agriculture/plant biochemistry, and toxicology. Applications of metabolomics in clinical testing are emerging, but several aspects of its use as a clinical test differ from applications focused on research or biomarker discovery and need to be considered for metabolomics clinical test data to have optimum impact, be meaningful, and be used responsibly. In this review, we deconstruct aspects and challenges of metabolomics for clinical testing by illustrating the significance of test design, accurate and precise data acquisition, quality control, data processing, n‐of‐1 comparison to a reference population, and biochemical pathway analysis. We describe how metabolomics technology is integral to defining individual biochemical phenotypes, elaborates on human health and disease, and fits within the precision medicine landscape. Finally, we conclude by outlining some future steps needed to bring metabolomics into the clinical space and to be recognized by the broader medical and regulatory fields.

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Proteomics and Metabolomics Data Analysis for Translational Medicine

Κάτσιλα

Patrinos

2018

Human Genome Informatics

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Clinical metabolomics: a pivotal tool for companion diagnostic development and precision medicine

Cited by 14 publications

References 18 publications

Integrated Metabolomics Assessment of Human Dried Blood Spots and Urine Strips

Integrated Metabolomics Assessment of Human Dried Blood Spots and Urine Strips

Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing

Proteomics and Metabolomics Data Analysis for Translational Medicine

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