Breath Biopsy – A Non-invasive Tool for the Early Detection of Disease and Cancer

Breath Biopsy-A Tool For The Early Disease Detection
The non-invasive breath biomarker identification and analysis offered by breath biopsy enables early diagnosis and precision medication for a variety of disorders.

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What is Breath Biopsy?

When you think of diagnostic tests for disease and cancer, the first thing that comes to mind is using samples of blood or tissue. While these methods have their merits, interest is growing in a less-invasive alternative – breath. Analyzing the patterns of gaseous molecules called volatile organic compounds exhaled in breath can reveal changes in metabolic activity associated with illness.

Breath testing offers a straightforward, non-invasive way to monitor our biology, providing a potential tool for the early detection of diseases and optimization of treatment through precision medicine. The potential of exhaled breath analysis is huge, with applications in many fields, including the diagnosis and monitoring of disease. However, as with all emerging research areas, there are numerous challenges to overcome before this innovation can be seamlessly integrated into everyday clinical diagnostics.

Learn more in our Breath Biopsy webinar or visit

What is the Concept of Breath Biopsy?

The concept of using breath samples to identify changes linked with health and disease is not new. Researchers have investigated the gaseous composition of breath and the VOCs in exhaled air for decades to learn more about our biology and health. In the genomics era, new technologies and an increased emphasis on high-throughput biological analysis and metabolomics have helped to expand the breath research field and interest in breathomics has grown rapidly.

Exhaled breath is more than just air; it contains over 1,000 volatile organic compounds (VOC) as well as microscopic aerosol particles, also known as respiratory droplets, originating from the lungs and airways. Both VOCs and breath aerosol represent rich sources of biological information. Conclusively, Breath Biopsy provides an entirely new way to access this information by collecting and analyzing breath samples. This makes it possible to:

  • Investigate biomarkers for disease early detection
  • Stratify patients by phenotype for precision medicine
  • Detect and monitor response to treatments
  • Measure exposure to hazardous substances and their impact on the body

In contrast to the invasive procedures of liquid and tissue biopsies, which necessitate the extraction of blood or tissue samples, a breath biopsy stands as a completely non-intrusive alternative, ensuring the utmost comfort for the patient.

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What are Breath Biomarkers?

Breath biomarkers largely arise either as VOCs captured from the air or as non-volatiles found within respiratory droplets from exhaled breath aerosols. Many exhaled VOCs are the products of metabolism and so reflect biochemical activities within the body. Respiratory droplets can contain non-volatile metabolites, proteins, DNA and viral pathogens offering insights into other biological processes. Both sample types can also be sources of data relating to environmental factors such as pollutants and chemical exposures that can have impacts on long-term health.

Due to their volatile nature, VOCs in breath are typically small molecules. They can arise from both external sources (food, smoking, pollution, chemicals) and from within the body itself, as such they can reflect biochemical and metabolic activity as well as environmental effects. Endogenous Volatile Organic Compounds (VOCs) typically emerge from metabolic activities. Consequently, the metabolic implications of various diseases manifest themselves in the distinctive patterns of these exhaled VOCs. Breath Biopsy represents an adaptable and accessible means to detect and measure VOCs as biomarkers for disease.

Breath Biopsy Workflow
Image source: Owlstone Medical.

How can we measure biomarkers in breath?

The Breath Biopsy platform consists of two components: breath collection through their breath collection device which can be deployed absolutely anywhere, and sample processing. Samples are typically analyzed, and VOCs identified using detailed chemical analysis tools such as mass spectrometry.

Through the integration of mass spectrometry (GC-MS) instrumentation into Owlstone Medical’s Breath Biopsy platform, Orbitrap-based high-resolution mass spectrometry will be qualified for the detection of new biomarkers via a validated discovery and routine analysis project. The GC Orbitrap enables confident identification of volatile compounds present in breath samples. The ultra-low and high concentrations encountered in these samples means that it’s essentially the system can maintain performance at all levels. Developed in partnership between Owlstone Medical and Thermo Fisher Scientific, the new analytical methods will be used to conduct metabolomics studies of breath samples for unique biomarkers that could translate into non-invasive, routine screening solutions for improved early diagnosis of cancer and other disease.

What are the advantages of Breath Biopsy?

One minute of breathing into the breath analyzer can collect exhaled breath with known biomarker VOCs, or ten minutes for the discovery of new biomarker VOCs. The process is pain free and noninvasive — unlike current liquid and tissue biopsies, which can be distressing for patients. The Breath Biopsy takes around 72 hours to process, from collection to the detection of established cancer biomarker VOCs.

For many diseases, the key determining factor in successful treatment and recovery is how early in its development the disease is identified. When identified at an early stage, before significant damage has been done to the body, treatment is much more likely to be effective. Changes in breath biomarker concentrations occur at the very earliest stages of disease, which means that detecting these biomarkers can allow for disease diagnosis before other physical symptoms have become apparent.

If you are keen to learn more about Breath Biopsy and Analysis technology, visit

Author: Dr. Julian Renpenning

Frequently asked questions

What is a breath biopsy and how is it different from a breast biopsy?

Breath Biopsy is a non-invasive procedure that analyzes breath samples, so-called volatile organic compound analysis or VOC analysis, for specific compounds or biomarkers associated with a variety of diseases. It offers a potential alternative to conventional biopsy techniques and has the benefits of being safe, convenient, and possibly capable of early detection. A breast biopsy, on the other hand, is an invasive procedure that entails the removal of breast tissue for examination and is used to diagnose breast conditions, especially breast cancer.

What is the process of a Breath Biopsy?

Breath Biopsy offers a solution that is entirely noninvasive and maximizes patient comfort. Breath Biopsy is applicable to a wide variety of diseases, such as inflammatory, lung cancer, asthma, gastrointestinal disorders, and breast cancer. The reason is that biomarkers and volatile biomarkers from all parts of the body can be captured in exhaled breath.

The collection of a breath sample is the first stage in a breath biopsy. This is accomplished by exhaling into a device or collection system designed to collect breath samples. Once the breath sample has been captured, it is processed in a laboratory in order to detect specific compounds or markers associated with the condition being tested. Typically, samples are analyzed and volatile organic compounds (VOCs) are identified using precise chemical analysis instruments such as high-resolution mass spectrometry. The breath sample is analyzed to identify biomarkers that may indicate the presence of a specific disease or condition. Biomarkers in exhaled breath may provide early indicators of certain diseases, enabling earlier intervention and treatment.

What is the breath collection device used in a Breath Biopsy?

The Breath Biopsy utilizes various breath collection instruments. The Breath Biopsy equipment includes a device for collecting and processing breath samples. Breath Biopsy Kits by Owlstone Medical include a breath collecting cartridge that accumulates, stabilizes, and pre-concentrates volatile organic compounds in breath, thereby enhancing detection sensitivity. Utilizing techniques such as GC-MS and GC-FAIMS, the ReCIVA Breath Sampler collects breath samples for distinct analysis. Using the ReCIVA Breath Sampler, Owlstone’s Breath Biopsy Collection Station is optimized for detecting a variety of exhaled analytes while ensuring patient comfort. 

Original version

Thermo Fisher Scientific Inc. – AnalyteGuru Blog >>>

Additional resources

Learn more about the Breath Biopsy workflow in this white paper.

TEDx Talk: Could a Simple Breath Test Diagnose Disease? >>>

Presentation: A new approach to Breath Biopsy using TD-GC-Orbitrap >>>

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


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

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

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