Breath Biopsy could herald a potential revolution in early cancer diagnostics

November 2020 Health of Tomorrow Tobias Rawson

Blood and tissue sampling have become synonymous with oncological diagnostic testing. Recently, however, the utilisation of gas chromatography-mass spectrometry has enabled the analysis of breath, commercially known as Breath Biopsy, to identify novel biomarkers, known as volatile organic compounds, that are specific to a disease. Theoretically, this technology has the potential to revolutionise diagnostic testing within clinical settings, representing an entirely non-invasive approach to patient sampling which can be implemented within primary care to increase diagnostic uptake and outreach.

Volatile organic compounds

Breath Biopsy is the diagnostic application of metabolomics- the study of small molecules involved in metabolic pathways of the body. Gaseous molecules, known as volatile organic compounds (VOCs), are present in every exhalation we take. These novel biomarkers are by-products of key chemical processes that occur within the human body, which can characteristically change in the presence of a particular disease. The subsequent detection of these changes can be used as a tool for diagnosis.

The detection of VOCs could also be used to measure a patient’s response to medication, or monitor aspects of general health, such as the gut flora of a patient, which produce gaseous by-products. Furthermore, artificial, non-harmful organic compounds, designed to be processed by a specific metabolic pathway, can be given to the patient, the metabolites of which can be detected to retrieve information on the efficiency of that pathway, thereby acting as a further diagnostic tool.

Breath Biopsy in cancer

Regarding the diagnosis of cancer, the analysis of VOCs comes with several advantages over current diagnostic methods. Although currently available for research use only, Breath Biopsy represents a time-sensitive diagnostic tool, that if validated for clinical practice, could increase the early detection of various cancers. This in turn would lead to earlier administration of therapy and therefore better clinical outcomes, as well as having the potential to save healthcare systems a significant amount of money worldwide. Highlighting a curative chance of 70% if detected early, the multicentre LuCID trial, which includes the University Hospitals of Antwerp and Ghent, aims to validate the VOC profile of lung cancers and could mean a clinical saving of £245 million for the United Kingdom’s National Health Service, with the long term aim of increasing the rate of detection of stage I lung cancer from 14.5% to 25%.

Unmet clinical need

Currently in Belgium, 48.8/100,000 men and 26.1/100,000 women are diagnosed with lung cancer every year. Interestingly, the incidence of lung cancer in Belgian women, per 100,000, has increased from 16.4 to 26.1 between 2004 to 2018. Clearly then, there is an unmet clinical need in these patients, and this trend could be mitigated, or even reversed with the implementation of an early detection method such as Breath Biopsy. Similar pilot studies are underway for the detection of oesophageal-gastric cancer and colorectal cancer.


Van der Schee, M., Pinheiro, H., & Gaude, E. (2018). Breath biopsy for early detection and precision medicine in cancer. Ecancermedicalscience, 12, ed84.

For further information, also visit the website of Owlstone Medical inc., the company that produces the Breath Biopsy device.