If you have just been diagnosed with cancer, or are facing recurrence, progression, or a change in treatment, you may feel bombarded with new information and advice. At some point, a clinician or even a well-meaning friend may urge you to have “biomarker testing” done. This phrase can be especially confusing when dealing with the stress of trying to understand a new diagnosis, a new prognosis, and treatment options. But for many patients, biomarker testing is a powerful tool that can help ensure you receive the optimal cancer treatment.
Cancer Commons frequently helps people understand such testing and how it applies to each person’s unique case. On September 14, 2022, we presented a webinar to clarify the topic for even more patients and families.
“One of the most important services we offer is guidance on how any patient can identify and access innovative testing options,” said Rebecca Driscoll, CEO of Cancer Commons. “I hope this webinar empowers more people to fully harness the benefits of biomarker testing.”
Featuring Cancer Commons Scientists Kaumudi Bhawe, PhD, and Adrienne Nugent, PhD, this was the third event in the Pat Looney Educational Series for Client Empowerment—a series of webinars that provide critical information to people dealing with cancer.
Here, we are pleased to outline the top highlights from the event, which drew audience members from across the US and abroad. A video of the entire webinar, Testing Matters—Understanding Cancer Biomarker Testing and How It Applies to You, is also available to view and share with anyone facing cancer.
Biomarker Basics
Every day, Drs. Bhawe and Nugent work one-on-one with people who turn to Cancer Commons for help.
“The reason both of us are here is because both of us had a rude introduction to this very devastating disease as children, and that’s what drove both of us into this field,” Dr. Bhawe said in her opening remarks for the webinar. “We are both very passionate about this, and we are with you.”
Often, Dr. Bhawe noted, patients have heard of biomarker testing, but they have many questions: Why did someone recommend it? What is it? When should I get it done? Where do I get it done? Is it a biopsy? Is it a blood test?”
Part of what makes biomarker testing so confusing is that many of the answers depend on the specific type of cancer and the patient’s specific case. In the webinar, to help explain biomarker testing, Drs. Bhawe and Nugent first broke it down in this way:
- Why?: The main reason why cancer biomarker testing is recommended is because it can help identify a patient’s best treatment plan going forward.
- What?: In the broadest sense, a cancer biomarker is a molecule or group of molecules used to understand the biology of a person’s tumor. As Dr. Nugent noted, the terms in this discussion might feel reminiscent of high school biology—biomarkers can be DNA-based, RNA-based, or protein-based.
“Biomarker testing” is when healthcare professionals measure the presence and levels of certain molecules. Whenever possible, this is typically done using a biopsy sample of the tumor itself, but it can sometimes also be done using other samples such as blood or urine.
- When?: Timing of testing is key. “This is something that Cancer Commons can help individual patients with on their cancer journey,” Dr. Nugent said. “It is unique to each type of cancer—and each patient—when and how often different types of tests are relevant.”
You may have already been tested for certain biomarkers as a routine part of the diagnosis process. If such a test is a standard procedure for your particular cancer type, your doctor may not have even used the phrase “biomarker testing.”
Otherwise, the main consideration is where you are in your cancer journey.
“If you are newly diagnosed, you have the best option for the most amount of data you can collect,” Dr. Nugent said. “You can work with your treatment team to map out a plan for all the different types of biomarker testing that can be done.”
Biomarker testing during or just after diagnosis can help guide initial treatment decisions. After that, biomarker testing can be done again at key decision points. However, Dr. Bhawe noted, the feasibility of testing at any given time depends on the types of tissue available; for instance, whether or not a biopsy is possible.
“That’s why having that conversation with your oncology team is very important,” she said.
- Where?: Testing can sometimes happen in a hospital lab, but specialty cancer testing labs and companies increasingly provide different kinds of biomarker tests.
The Landscape of Biomarker Testing
Next, Drs. Bhawe and Nugent outlined the different kinds of biomarker tests in greater detail. Many of these tests use a kind of technology known as next-generation sequencing (NGS), which has brought down the costs of testing, helping it to be more widely available.
“How this is done is rapidly changing as new technologies emerge,” Dr. Nugent said. “At Cancer Commons, we stay on top of the latest types of biomarker testing so that we can explain how to access and get these types of tests done.”
Many biomarker tests focus on DNA molecules. Specifically, these tests look for mutations—abnormal changes—in the sequence of smaller building blocks that make up DNA. Some DNA tests fall into the category of genetic testing; these tests can identify DNA mutations inherited in your family tree that can make it more likely that you or your family members will develop cancer.
Genetic testing has been around for a few decades. But in the last decade or so, a type of testing called comprehensive genomic profiling has made it possible to detect DNA mutations in the cells of a tumor itself. For the most part, these are mutations that were not inherited but arose later on and drove development of the cancer. Knowing these mutations can help your medical team understand how well certain treatments might work for you.
Genomic testing may address the entire collection of DNA found in a given cancer cell in a procedure known as whole genome sequencing. Or, a test might just focus on the exome, which is a much smaller subset of DNA that codes for proteins. But in many cases, Dr. Bhawe said, it is more prudent to begin with a targeted gene panel that looks for mutations in certain genes that are known to be involved in cancer. Examples of such genes are BRAF, EGFR, KRAS, and IDH1.
“You can see how it is already very confusing,” Dr. Nugent said. “Do I only need a few genes sequenced? Do I need exome sequencing? Is it worth paying more money for a whole genome, looking for an outside company? Has my provider recommended the proper tests?”
Delving deeper into DNA biomarker testing, Drs. Bhawe and Nugent discussed measurements known as microsatellite instability, tumor mutational burden, and loss of heterozygosity. This information can indicate whether a patient might benefit from treatments known as immunotherapies.
Beyond DNA, some patients might benefit from tests that detect a different type of genetic molecule known as RNA. For instance, some RNA tests can detect a certain kind of mutation known as a gene fusion. “What’s so exciting about these fusions is that they’re really amenable to targeted therapies,” Dr. Nugent said.
Some patients might also benefit from gene expression profiling, which essentially uses RNA to detect which genes are turned “on” or “off” in a tumor. This type of test can be quite helpful for guiding treatment, but it can be very expensive.
Lastly, Dr. Bhawe explained, immunohistochemistry methods can test for the presence of certain proteins in a tumor—for instance PDL-1, HER-2, BCL-2, or SST2A—that may provide clues to a patient’s best treatment.
Drs. Bhawe and Nugent wrapped up the webinar by answering several audience questions. These included inquiries about liquid biopsies—tests that use blood or other body fluids to reveal information about a patient’s tumor, and minimal residual disease (MRD) testing—tests that help find and monitor any cancer cells that may have escaped treatment.
Testing Options and Access
Many patients and caregivers who use Cancer Commons’ services have experienced “incredibly frustrating situations getting the proper biomarker testing paid for through their insurance companies,” Dr. Nugent said. Fortunately, most testing companies or providers offer need-based financial assistance, which you can often apply for on their websites.
“And you can always reach out to organizations like us for support to help understand the process,” Dr. Nugent said. Our Patient Services team can help you understand if you might benefit from any specific tests, how to access them and seek financial assistance, and how the results can help clarify your prognosis and treatment options.
“If you walk away with anything at all today, we’d like you to remember that we’re here with you on this journey,” Dr. Bhawe said. “Even though some of the medical jargon, all these terms, can be confusing and intimidating… we both consider it our passion to communicate this sort of information with people and walk with them in that journey.”
As always, we invite anyone facing advanced cancer to sign up to receive one-on-one help from our compassionate experts. We are here for you.
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