Alessandro Busetti's presentation on biomarker discovery and validation using global metabolomics highlighted the importance of biomarkers in personalised health interventions and the role of metabolomics in overcoming challenges in biomarker discovery. He began by explaining that biomarkers could be nearly anything that distinguishes one phenotype from another, such as diagnostic tests, physical characteristics, genetics, age, and diet. However, general screening methods faced technological and mathematical challenges, as well as limited sample availability.
Busetti introduced metabolomics as a promising technology that could provide comprehensive metabolic profiling and overcome these challenges. He defined metabolomics as the study of metabolites, which are intermediates and end products of metabolism, reflecting the physiological state of biological systems. Metabolomics offered a snapshot of the entire physiology of a biological system, representing its functional status during disease and treatment.
Metabolon, the company Busetti represented, provided three main solutions for metabolomics: global discovery panel (untargeted analysis), targeted lipidomics, and targeted metabolomics. The global discovery panel was the most powerful approach for biomarker discovery, profiling up to 5400 metabolites with high chemical accuracy. Targeted lipidomics focused on accurate quantification of over 1000 lipid species across 14 different classes, while targeted metabolomics involved a smaller panel of biomarkers for validation.
Busetti presented two case studies to demonstrate the application of metabolomics in identifying biomarkers. The first study focused on immune oncology and the discovery of biomarkers of response to immunotherapy in metastatic melanoma patients. Researchers performed metagenomic shotgun sequencing on patient faecal samples and identified specific bacterial species enriched in the gut microbiomes of responders. They also found differences in microbiome gene content and identified metabolites significantly different between responders and those with progressive disease.
The second case study, which Busetti did not delve into due to time constraints, was mentioned briefly. He concluded by emphasising the potential of metabolomics to integrate various sources of data and provide valuable insights for biomarker discovery and validation. Busetti encouraged the audience to visit Metabolon's booth to learn more about their metabolomics studies.
