Parallel session
Chair: Andrew Davison
Mass spectrometry in the clinical laboratory - is metabolomics the next big thing?
9.30 - 10.00 - Discovery and validation of clinical metabolic biomarkers using metabolomic tools - Warwick Dunn
Metabolites are small biochemicals which can be assayed using many different scientific techniques. A range of metabolites are already applied in clinical biochemistry laboratories for disease diagnosis including glucose (for insulin resistance and diabetes) and amino acids/acyl carnitines for newborn screening for inborn errors in metabolism. Metabolomics is a discovery-based strategy applied to investigate 100-1000s of metabolites in human biofluids and tissues to enable the identification of multi-metabolite biomarker panels to be applied for disease diagnosis, risk stratification and response to treatment. In this presentation I will introduce (1) the role of metabolomics for discovery of new biomarker panels will be introduced with examples from the presenters group focused on blood cancers and exocrine function, (2) discuss the importance of validation and translation workflows and (3) discuss future applications and bottlenecks to overcome.
10.00 - 10.30 - Biomarkers of dying - how we die from cancer? Seamus Coyle
Predicting when a patient with advanced cancer is dying is a challenge and currently no prognostic test is available. Despite the fact that nearly 10 million people worldwide died from cancer in 2020 alone, little is known about the biochemical pathways that change as people die. We hypothesise there are specific metabolic changes associated with dying. This talk will present the results of recent metabolomic studies on the urine of patients with lung cancer. Metabolomics identifies new or changing metabolites from biological samples and can give an insight into changes in biochemical pathways. Data will be presented showing not only metabolite changes but also associated biochemical pathways. From these metabolites we developed a number of models predicting the dying process within the last weeks of life. The metabolites identified are potential biomarkers of dying in lung cancer and could be used as a tool to provide additional prognostic information to inform expert clinician judgement.
10.30 - 11.00 - Urine steroid metabolomics for the differential diagnosis of Adrenal Tumours - James Hawley
Adrenal tumours are detected in up to 7% of cross-sectional imaging studies, these have limited specificity for diagnosing adrenocortical carcinoma (ACC). Urine steroid metabolomics (USM) is a sensitive and specific tool for detecting ACC. USM was first established using multi-steroid profiling using gas chromatography-mass spectrometry combined with a machine learning (ML) based diagnostic algorithm. However, we have recently prospectively validated the use of liquid chromatography-tandem mass spectrometry (LC-MS/MS) for high-throughput USM for the detection of ACC. Here, I will discuss the journey so far as we look to translate LC-MS/MS USM combined with machine learning from a useful research test into routine NHS practice.
Chair: Andrew Davison