A hand holding up a DNA strand

Why Biomarker Testing Matters

Last updated: October 2021

As we’re learning more about lung cancer, including how it progresses and how it can be treated, new diagnostic and biomarker testing options have arisen. In addition to typical diagnostic and follow-up tests, such as CT scans, lung biopsies, chest X-rays, MRIs, and more, biomarker testing has gained popularity as a way of learning more about an individual’s cancer and potentially how to treat it. Although biomarker testing is a relatively new option, it may be beneficial in some lung cancer cases, specifically in non-small cell lung cancer (NSCLC).1,2

Who gets biomarker testing and what are their results?

Within the past year, we conducted the 2018 Lung Cancer in America survey. We received responses from over 800 individuals who either had a diagnosis of lung cancer or were a caregiver to someone with lung cancer. Of individuals with non-small cell lung cancer, just under 40% had some form of biomarker testing. Of these respondents, about 25% tested positive for a mutation, and 13% were tested, but a common mutation was not found.

The most common mutation that individuals with NSCLC tested positive for was an EGFR mutation, with 14% of respondents receiving this result. The next most common mutation was an ALK rearrangement affecting 4% of participants. Additionally, KRAS mutations and ROS1 rearrangements both had 2% each, and were the next most commonly reported.

About 23% of participants with NSCLC had never been tested for mutations, and over 40% were unsure whether or not they had this kind of testing in the past, indicating that biomarker testing may not be as widely used or known about by individuals with lung cancer, specifically NSCLC.

What is biomarker testing?

The basic idea behind biomarker testing is to identify any mutations within an individual’s genes. In cancer cells, specific mutations can cause cancer cells to grow, or proliferate, leading to further development and spread. Some mutations may help predict the way a cancer will behave as it progresses, including its aggressiveness. This information may also help predict how a cancer might respond to treatment.

Biomarker testing can be done on cells taken for a biopsy. When a biopsy is performed, a small collection of cells are taken out of the body and analyzed under a microscope to help diagnose specific types of cancer. These cells can also be further analyzed in a lab to determine their genetic components. This second step is where specific mutations might be identified.1,2

How can biomarker testing impact treatment?

Finding out what mutations an individual’s cancer cells have can greatly impact treatment and lead to a personalized plan of attack for your specific cancer (sometimes referred to as personalized medicine). Some mutations may have FDA-approved medications on the market already that are designed to fight that specific cancer. Other mutations may help predict the likelihood of a cancer returning after radiation and/or surgery and may help determine what the next best steps might be when it comes to procedures or planning. Additionally, some mutations may have treatment options that are being investigated in clinical trials, and your doctor may be able to connect you with a trial you can try to join if you are interested.

Examples of mutations that currently have FDA-approved treatments on the market include:

  • EGFR mutation (Epidermal Growth Factor Receptor)
  • ALK gene rearrangement (Anaplastic Lymphoma Kinase)
  • ROS1 rearrangement
  • BRAF V600E mutation1,2,3

Examples of mutations that are being researched in clinical trials and have treatment options in development include:

  • KRAS mutation
  • T790M mutation
  • Presence of PD-L1 protein in cells1,2,3

Talk with your doctor

At this time, individuals with NSCLC may benefit the most from biomarker testing, followed by individuals with squamous cell or small cell lung cancer who were never smokers.1,2 However, regardless of what kind of lung cancer you have, or your smoking history, you can still ask your doctor or healthcare team about biomarker testing and if it’s appropriate in your specific case. Biomarker testing may not benefit everyone, and your doctor can explain why it may or may not be an option for you.

Learn more about biomarker, tumor, and genomic testing:

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