Biomarker & Genetic Testing: What You Should Know
If you or someone you love has been recently diagnosed with cancer, you’ve probably seen the terms biomarker and genetic testing thrown around quite a bit. While both types of testing are important, these terms describe two very different things. This article will highlight the role of both tests and help you understand how each may fit into your cancer journey.
Biomarker Testing:
Biomarker testing, sometimes referred to as molecular or genomic testing, looks for changes in the genes of tumor cells. In many cancers, biomarker testing is used to help choose the best treatment for you – and is the foundation of what is called personalized medicine. Biomarker testing is typically recommended for patients with advanced cancer (Stage III or Stage IV) but may be performed in earlier stage cancer depending on the tumor type.
A biomarker is a substance found in your body that can be measured and can give doctors information about your health. In cancer, biomarkers are abnormal changes in cells that cause cancer to survive and grow. Biomarker testing is different from genetic testing (explained more below) because biomarker testing focuses on your cancer’s cells while genetic testing looks for inherited changes that are found in all your cells.
Biomarker testing is performed using a biopsy or a blood draw, depending on the tumor type and its location, and then sent to a lab for testing. Your doctor will then schedule a time to discuss the results with you. When discussing your results, be sure to ask for a copy of the biomarker testing report. This will come in handy should you decide to later get a second opinion or when making future treatment decisions.
Your provider will typically recommend waiting for your biomarker test results before starting a treatment, which can take several weeks. The wait can feel maddening, but please know that it is worth it! Biomarker testing gives your doctor important information that they need to make informed, personalized treatment plans.
Once you have your biomarker test results, it’s now time to discuss your treatment options with your doctor. This could include an FDA-approved therapy, a clinical trial, or other options. This is also when you can talk to your doctor about getting a second opinion. Some people feel nervous or uncomfortable asking their doctor about this, but getting a second opinion about your condition or care is one of your most important rights as a patient.
Genetic Testing for Inherited Cancer Risk:
We all inherit genes from our parents, and these genes are like a blueprint for our bodies. But sometimes, there can be changes, or mutations, in these genes that can increase our risk of developing certain types of cancer.
Most cancers occur randomly, but sometimes a person carries a change in a gene that can increase their risk of developing cancer. This is called an inherited cancer risk. Knowing that you have an inherited cancer risk can help you – and your family by extension – take steps to more proactively prevent or more actively screen for cancer.
Genetic testing for an inherited mutation looks in your blood or saliva to identify mutations in genes that can increase your risk of developing disease, including cancer. This is particularly important if you have a personal or family history of certain cancers, such as breast, ovarian, pancreatic, or colorectal.
Genetic testing is not the same as biomarker testing (which is explained above). Genetic testing looks for inherited changes that are present in every cell in your body, while biomarker testing looks for changes that are only present in a tumor cell.
Before you have a genetic test, it’s important to discuss the benefits and risks with a genetic counselor or other knowledgeable health provider. If you decide to move forward with testing, you will need to provide a blood or saliva sample. This sample will then be sent to a lab for processing. After your results are available, you’ll meet with your genetic counselor to discuss your results and what they mean for you and your family. When you meet your genetic counselor, be sure to ask for a copy of your results. This can be helpful when sharing your results with other health care providers or with your family if you choose.
Most health plans cover genetic counseling and testing for people who meet certain criteria (i.e. young age at diagnosis, multiple cancers in the family, rare cancer, etc.) but it’s important to discuss this with your genetic counselor or healthcare provider, as coverage can vary from plan to plan.
It’s also important to note that many direct-to-consumer offerings do not examine all your genetic information, giving you an incomplete understanding of your possible risk.
Why Should You Care?
Understanding these tests can help you take control of your health. If you have a family history of cancer, genetic testing for inherited cancer can help you better understand your own risk for developing cancer. And if you’re already facing cancer, both biomarker testing and genetic testing for inherited cancer risk can help you and your doctors choose the best treatment for you.
Remember, it’s your body and your health. Don’t be afraid to ask questions, seek support, and get the information you need. For additional support, please contact a member of our Sharsheret support team at 866.474.2774.
Questions to ask your doctor about cancer biomarker testing:
- Was my tumor tested for biomarkers?
- Did my results show any biomarkers?
- Will my insurance pay for biomarker testing?
- Are there any risks to biomarker testing?
- How long will I need to wait before the results are available?
- Has my cancer been tested for all treatable biomarkers and biomarkers that may help me gain eligibility in clinical trials?
- Based on my biomarker results, how do we decide what is the best treatment for me?
- How can I get a copy of my biomarker test results?
This discussion guide may be helpful when you speak with your doctor. The guide can support you in asking your doctor or nurse the right questions about biomarker testing, ensuring you received the optimal level of biomarker testing, and understanding how biomarker testing can expand your optimal treatment options, including clinical trials.
Questions to ask your genetic counselor about genetic testing for inherited cancer risk:
- What does the genetic testing process involve?
- How likely is it that I have an inherited mutation associated with cancer risk?
- What can I do to reduce my changes of developing cancer?
- Does the test provide information about my risk for other diseases besides cancer?
- If I haven’t been diagnosed with cancer and I test positive for an inherited cancer gene mutation, does that mean I am definitely going to be diagnosed with cancer?
- If I haven’t been diagnosed with cancer and I test negative for a cancer gene variant, does that mean my cancer risk is not higher than average?
- Is it possible for my results to be uncertain?
- If I’ve already been diagnosed with cancer, can genetic testing help predict whether the cancer will come back?
- If I get genetic testing now, do I need to get tested again in the future?
- How will the results of my genetic test impact my family members?
- What are my options to pay for genetic testing?
- Can my health or life insurance company increase my rates if I test positive?
- Should I obtain life insurance before undergoing genetic testing?
Information provided by Sharsheret is not a substitute for medical advice or treatment and should not be used to diagnose or treat a health problem. Always seek the advice of your physician or qualified health provider.
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