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Liquid Biopsy

Innovation to improve patient management

A biopsy is a critical procedure for patients with cancer—providing crucial information on diagnosis, prognosis, and prediction of response or resistance to treatment. In some cancer types, like non–small cell lung cancer, it is often difficult to obtain enough tissue from the tumour for biomarker testing, due to the health of the patient or the location of the tumour.

Liquid biopsy offers an alternative sample type that can overcome the barriers associated with obtaining tumour tissue samples. It allows physicians and labs to use plasma from the patient to detect genetic changes in the tumour, when obtaining tumour tissue is not available or poses a risk to the patient.

The blood draw is a non-invasive procedure for patients and a repeatable testing method for labs and physicians. Liquid biopsy has incredible potential to transform cancer patient testing and management, and is quickly becoming a compliment to the common tissue biopsy technique.

Roche is at the forefront of innovating liquid biopsy in managing lung cancer patients. Roche has developed a test (the cobas® EGFR Mutation Test v2) that can be used on both tissue and cfDNA in plasma to identify the mutations in the epidermal growth factor receptor (EGFR) gene associated with NSCLC. As promising research into liquid biopsy continues, Roche remains committed to directly translating that research into more accurate diagnostics and improved patient care.

Improving patient care

Clinical Information

*SQI feature is currently not available in the USA.

When testing plasma with the cobas® EGFR Mutation Test v2, a unique feature called the Semi-Quantitative Index (SQI)* is included in the report. This number is designed to reflect a trend in the EGFR mutation load. By sequentially testing a patient for the EGFR mutation, tracking the SQI value and identifying a trend may lead to understanding tumour progression, an option not available in other tests.

The science of liquid biopsy

For several decades, it has been known that tumors release markers into the blood in different ways. Cell-free DNA (cfDNA), circulating tumor cells (CTCs) and exosome mRNA are all increasingly being isolated and used to detect and monitor targets associated with cancer—for diagnosis, prognosis prediction and drug resistance monitoring.

The biggest benefit of liquid biopsies lies in the potential to detect disease progression or treatment resistance long before it would trigger clinical symptoms or appear on imaging scans. In addition, certain cancers, such as melanoma and lung cancers, tend to have at least two to four genetic mutations. The tissue samples removed for biopsy may not show all mutations due to tissue heterogenity whereas liquid biopsies offer an improved chance of detecting these genetic changes.

tumor biomarkers in blood

Cell-Free DNA Cell-free DNA (cfDNA)
Cell-free DNA or cfDNA is the most easily obtainable and the most well studied type of liquid biopsy. In a clinical setting, cfDNA can detect mutations, aid in drug selection and therapy response prediction, as well as monitoring for emerging drug resistance.
circulating tumor cells Circulating tumour cells (CTCs)
Another approach in liquid biopsies is isolating and testing circulating tumour cells. This has shown prognosis prediction in a clinical setting and monitoring capabilities for drug resistance.
Exosomes Exosomes
The last method to test for tumours in the blood or detect mutations is through mRNA and proteins in exosomes with potential for detecting translocations and gene amplifications.


See why the new blood-based liquid biopsy means more options for the most critical patients.

The future of liquid biopsy

While liquid biopsies may not replace tissue biopsies for the initial diagnosis, it is increasingly becoming evident that liquid biopsy has a major advantage in detecting mutations in real time thereby enabling the oncologist to manage the patients more effectively.

Learn about the potential role of liquid biopsy in monitoring lung cancer patients, detecting disease progression and identifying those likely to respond to tyrosine kinase therapy.

Advanced testing options for lung cancer patients

The cobas® EGFR Mutation Test v2 can help you power better cancer care for you patients. Explore the facts and figures behind the test, and begin changing the standard of care today.

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