Select Scientific Publications

Precision of a Clinical Metabolomics Profiling Platform for Use in the Identification of Inborn Errors of Metabolism

Lisa Ford, Adam D Kennedy, Kelli D Goodman, Kirk L Pappan, Anne M Evans, Luke A D Miller, Jacob E Wulff, Bobby R Wiggs, III, John J Lennon, Sarah Elsea, Douglas R Toal

The Journal of Applied Laboratory Medicine, Volume 5, Issue 2, March 2020, Pages 342–356

The application of whole-exome sequencing for the diagnosis of genetic disease has paved the way for systems-based approaches in the clinical laboratory. Here, we describe a clinical metabolomics method for the screening of metabolic diseases through the analysis of a multi-pronged mass spectrometry platform. By simultaneously measuring hundreds of metabolites in a single sample, clinical metabolomics offers a comprehensive approach to identify metabolic perturbations across multiple biochemical pathways.

Validation of a Metabolite Panel for a More Accurate Estimation of Glomerular Filtration Rate Using Quantitative LC-MS/MS

Tiffany A FreedJosef CoreshLesley A InkerDouglas R ToalRegis PerichonJingsha ChenKelli D GoodmanQibo ZhangJessie K ConnerDeirdre M HauserKate E T VroomMaria L OyaskiJacob E WulffGudný EiríksdóttirVilmundur GudnasonVicente E TorresLisa A FordAndrew S Levey

Clinical Chemistry, 2019 Mar;65(3):406-418

Clinical practice guidelines recommend estimation of glomerular filtration rate (eGFR) using validated equations based on serum creatinine (eGFRcr), cystatin C (eGFRcys), or both (eGFRcr-cys). However, when compared with the measured GFR (mGFR), only eGFRcr-cys meets recommended performance standards. Our goal was to develop a more accurate eGFR method using a panel of metabolites without creatinine, cystatin C, or demographic variables.

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

Adam D. Kennedy, Bryan M. Wittmann, Anne M. Evans, Luke A.D. Miller, Douglas R. Toal, Shaun Lonergan, Sarah H. Elsea, Kirk L. Pappan

Journal of Mass Spectrometry, 2018; 53:1143–1154

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...

Structure elucidation of metabolite x17299 by interpretation of mass spectrometric data

Qibo ZhangLisa A. FordAnne M. Evans, Douglas R. Toal 

Mtabolomics, June 2017;

A major bottleneck in metabolomic studies is metabolite identification from accurate mass spectrometric data. Metabolite x17299 was identified in plasma as an unknown in a metabolomic study using a compound-centric approach where the associated ion features of the compound were used to determine the true molecular mass.

LC-MS/MS method for quantitation of seven biomarkers in human plasma for the assessment of insulin resistance and impaired glucose tolerance

Qibo ZhangLisa A FordKelli D GoodmanTiffany A FreedDeirdre M HauserJessie K ConnerKate E T Vroom, Douglas R Toal

Journal of Chromatography B, 2016; 1038:101-108

Early detection of insulin resistance (IR) and/or impaired glucose tolerance (IGT) is crucial for delaying and preventing the progression toward type 2 diabetes. We recently developed and validated a straightforward metabolite-based test for the assessment of IR and IGT in a single LC–MS/MS method.

Analytical Performance of Multiplexed Screening Test for 10 Antibiotic Resistance Genes from Perianal Swab Samples

G Terrance WalkerTony J RockweilerRossio K KerseyKelly L FryeSusan R MitchnerDouglas R ToalJulia Quan

Clinical Chemistry, 2016; 62(2):353-359

Multiantibiotic-resistant bacteria pose a threat to patients and place an economic burden on health care systems. Carbapenem-resistant bacilli and extended-spectrum β-lactamase (ESBL) producers drive the need to screen infected and colonized patients for patient management and infection control.