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Breath Biopsy™ – How Exhaled Breath Can Be Used to Uncover Disease and Cancer

Team TFS
Team TFS
breath-biopsyBiomarker studies using exhaled breath are rapidly emerging as a novel approach for early disease detection and precision medicine. In my last blog article - Breath Biopsy™ – A Non-invasive Tool for the Early Detection of Disease and Cancer - I introduced the concept of using exhaled breath samples to identify changes linked with health and disease. This novel breath analysis workflow offers a completely non-invasive experience for patients as an alternative to painful biopsy procedures. Breath Biopsy has the potential to enhance patient wellbeing while making clinical workflows simpler. This approach provides an entirely new way to access metabolic information by collecting and analyzing breath samples for early disease detection, detecting and monitoring response to treatments, or measuring exposure to hazardous substances and their impact on the body.

Learn more in our Breath Biopsy webinar or visit

Billy Boyle, the Co-Founder and CEO of Owlstone Medical, explained in this interview how he is planning to save 100,000 lives and $1.5 billion in health care costs using Breath Biopsy in combination with the Orbitrap GC-MS as an early disease detection.

Liquid biopsy vs. Breath Biopsy

While blood, urine, and stool tests have become commonplace ways to identify illnesses, the development of breath tests has lagged, and the primary reason is there was no reliable way to collect a breath sample and to analyze it. With Breath Biopsy, Owlstone Medical is leaping those hurdles with its standardized sample collection and its analysis technologies.

Unlike liquid and tissue biopsies, which require blood or tissue samples to be taken, exhaled breath sampling is completely non-invasive. Breath analysis, however, requires a highly sensitive analytical technique capable of accurately measuring the broad range of volatiles present in the exhaled air. Today we will learn how low- and high-abundance biomarkers can be quantified from exhaled breath using high‑resolution accurate mass (HRAM) mass spectrometry (MS) as the Orbitrap GC-MS.

Quantitative Biomarker Discovery with GC-MS

Historically the robust and reproducible analysis of VOCs in breath has posed many technical and analytical challenges which have led to limited agreement between different studies. Today, there are different tools available that can be used for quantitative analysis of exhaled breath. Out of the available techniques, the most effective analytical method is the Gas Chromatography-Mass Spectrometry (GC-MS) coupled to a thermal desorption (TD) unit, which provides highly specific information on the qualitative and quantitative presence of VOCs in exhaled breath, making it the gold standard for the untargeted analysis required in biomarker discovery. Excellent long-term stability makes GC-MS capable of reproducibly measuring potential VOC biomarkers at the low concentrations present in exhaled breath. Within the clinical environment, there is a need to collect both quantitative and qualitative information from a single run. Same time very high and ultra-low levels of compounds in a sample need to be encountered. The Orbitrap GC-MS in this particular case takes advantage of its high-resolution capabilities, the wide dynamic range and mass accuracy that provides fast and confident identification.

Download the Breath Biopsy with TD-GC-Orbitrap white paper.

Identification of Novel Biomarkers

At this relatively early stage in the development of the Breath Biopsy field, the ability to identify and investigate the role of specific biomarkers is a key advantage in developing effective breath tests for clinical applications. A full-scan high-resolution data provided by an Orbitrap GC-MS offers the capability and flexibility to leverage sampled data at a later stage for re-evaluation. This provides scientists and researchers a simplified way for a retrospective deep dive into results, but also to increase the amount of relevant sample data, to target specific compounds, and perform required quantification potential biomarkers. And that is essential to build up an understanding of what is normal, abnormal, or critical when variations in the sample are monitored.

A key benefit of the quantitative approach is that, once biomarkers have been identified and thoroughly validated, a wider range of options are available for their subsequent development. Well-characterized biomarkers can be investigated within differing patient populations, irrespective of whether the same technology is used for analysis. It is this level of versatility that makes quantitative discovery methods extremely advantageous when creating a clinical test which could be approved by regulatory bodies. Breath Biopsy is now in use at over 100 clinical sites worldwide investigating various diseases that are listed in the image below.


Image source: Breath Biopsy represents a non-invasive, adaptable and accessible means to detect and measure biomarkers – which are closely linked to disease activity. The clinical applications for breath biomarkers are wide-ranging, with numerous applications in both precision medicine and early detection.

If you want to learn more about Breath Biopsy and Analysis technology visit

Join the digital Breath Biopsy Conference 2020

Thermo Fisher Scientific is sponsoring the digital Breath Biopsy Conference 2020. The conference seeks to facilitate progress in the breath research field by bringing together leading researchers and research organizations to share the latest advances and to discuss common challenges. Find details here.


Additional resources:

Webinar: Enhancing Breath Biopsy Through TD-GC-Orbitrap Mass Spectrometry

TEDx Talk: Could a Simple Breath Test Diagnose Disease?

Presentation: A new approach to Breath Biopsy using TD-GC-Orbitrap, Kayleigh Arthur, Breath Biopsy C...

Webpage: New Breath Analysis Workflow - A non-invasive approach for disease detection


Breath Biopsy® - Biomarkers on Exhaled Breath, Owlstone Medical

Detecting the Presence of Cancer in Patients’ Breath, Technology Networks (2020)

Developing new ways to diagnose cancer, BioTechniques: The International journal for life science me...

How a breath biopsy test could change the face of early cancer detection, The Pharmaceutical Journal...