Detecting gene mutations in lung cancer

A simple test that can detect gene mutations in tumour DNA from blood samples is giving new choices to lung cancer patients with faster diagnosis and improved access to life-changing drugs. Traditionally, lung cancer diagnosis has relied solely on lung biopsies, an invasive procedure which many patients are too unwell to tolerate. However, a new EGFR mutation test enables the use of a liquid biopsy from blood alongside or instead of the lung biopsy to identify genetic abnormalities in the EGFR gene associated with lung cancer.

University Hospitals Birmingham NHS Foundation Trust (UHB) has introduced the test to its renowned cancer diagnostics laboratory. The new testing service gives more patients access to life-saving treatments with fewer side-effects than classic chemotherapy, improving quality of life for patients.

Consultant histopathologist Dr Philippe Taniere said: “Identifying mutations in blood samples has historically been a challenge due to the low frequency of cancerous cells in the sample. However, this new cobas EGFR Mutation Test v2 CE-IVD test from Roche Diagnostics has made it possible to take a simple blood sample and rapidly identify EGFR mutations in tumour DNA. We are delighted to be providing such an advanced service to our patients and leading the way in diagnostic capabilities in the region and the UK.”


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