New research details the development of a blood test that can identify genetic mutations associated with non-small cell lung cancer within 72 hours. Researchers say that the test could lead to faster, more effective treatment for the disease. The new test was created by Gary A. Pestano, Ph.D., and colleagues from Biodesix, Inc., a molecular diagnostic company based in Boulder, CO. Piston and team recently described the accuracy of their new test in The Journal of Molecular Diagnostics.
Lung cancer is one of the most common cancers in the United States. This year, it is estimated that around 222,500 new cases of lung cancer will be diagnosed, and more than 155,000 people will die from the disease. Non-small cell lung cancer (NSCLC) accounts for around 80% to 85% of lung cancers. NSCLC is named as such due to the types of cells that it affects in the lungs. The most common subtypes of NSCLC are adenocarcinoma, squamous cell carcinoma, and large cell carcinoma.
At present, the type of treatment provided for NSCLC is usually determined using a lung biopsy, which involves removing a sample of tissue or fluid from the lungs for analysis. However, Pestano and colleagues note that this procedure is invasive and is not always necessary or accurate. Pestano and colleagues said, “For instance, approximately one fourth of patients with NSCLC are either not candidates for biopsy or have insufficient tissue samples recovered from the initial biopsy. This can limit the treating physicians’ ability to fully diagnose the cancer genotype. Importantly as well, results from tissue-based testing can take weeks to obtain and can delay time to treatment.”
Patients with NSCLC may possess certain gene mutations. For example, EGFR gene mutations are present in around 10% of NSCLC patients, while KRAS gene mutations affect around 25% of patients with the disease. Additionally, almost 5% of patients with non-small cell lung tumors possess abnormalities in the ALK gene. Most commonly, this involves ALK binding to a gene called EML4, resulting in a mutant gene called EML4-ALK. Studies have suggested that genetic testing may aid personalized treatment for NSCLC, given that the presence of certain genetic mutations can be used to predict a patient’s response to certain cancer therapies.
Patients with EGFR gene mutations, for instance, are more likely to respond to medications called EGFR tyrosine kinase inhibitors, such as erlotinib, while patients with the EML4-ALK gene are less likely to respond to these drugs. In their study, Pestano and colleagues describe the development of a blood test that identified genetic mutations in blood samples of NSCLC patients with high accuracy, and the results of the test were available in under 72 hours.