Discovery and evaluation of non-invasive tests and risk models for personalized colorectal cancer screening
Metabolomics approaches in a screening setting
Within the broad spectrum of research of non-invasive tests and risk models for CRC screening, we decided to focus on metabolomics. Metabolite panels have shown great ability in distinguishing between colorectal cancer and healthy controls in previous studies done in clinical settings. The question is whether and to what extent metabolomics approaches would be useful in the screening setting, among asymptomatic individuals. Based on data from 3 studies that are being run in the Division of Clinical Epidemiology and Aging Research at the DKFZ, we are seeking to derive and validate a blood-based metabolomics signature for detection of colorectal cancer (CRC) and advanced adenomas (AA), the CRC precursors. We have a two-stage design (discovery set and validation set). In the discovery set, we have 256 healthy controls, 82 participants with AA, and 178 with CRC. In an independent validation set (participants of screening colonoscopy; screening setting), we have 226 healthy controls, 262 AA cases, and 63 CRC cases. We have sent blood samples from each participant to a company in Finland (Nightingale Health) who have meanwhile measured the concentration of a panel of 250 metabolomics markers using nuclear magnetic resonance spectroscopy. We are currently analyzing all these data and investigating the diagnostic performance of individual markers and multiple-marker signatures in the discovery set, which will then be evaluated in the validation set (screening participants).