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Is Biomarker Testing Part of Precision Medicine?

Biomarker testing

What is biomarker testing for cancer treatment?

Biomarker testing is a method of looking for cancer-related genes, proteins, and other chemicals (also known as biomarkers or tumor markers). Biomarkers have a distinct pattern in each person’s cancer. Some biomarkers have an impact on the effectiveness of cancer therapy. Biomarker testing could aid you and your doctor in determining the best cancer treatment for you.

Other types of biomarkers can aid doctors in diagnosing and monitoring cancer during and after treatment.

Biomarker testing is for cancer patients. Biomarker testing is available for persons with solid tumors and blood cancer.

Biomarker testing for cancer treatment may also be called:

  • tumour testing 
  • tumour genetic testing 
  • genomic testing or genomic profiling
  • molecular testing or molecular profiling 
  • somatic testing 
  • tumour subtyping 

A biomarker test may be called a companion diagnostic test if it is paired with a specific treatment.

Biomarker testing is different from genetic testing that is used to find out if someone has inherited mutations that make them more likely to get cancer. Inherited mutations are those you are born with. They are passed on to you by your parents.

How are biomarker tests used to select cancer treatment?

Biomarker testing can assist you and your doctor in determining the best cancer therapy option for you. Some cancer treatments, such as targeted therapies and immunotherapies, may only be effective if particular biomarkers are present in the patient’s malignancy.

Conceptual illustration of personal genomic data.

For example, people with cancer that has certain genetic changes in the EGFR gene can get treatments that target those changes, called EGFR inhibitors. In this case, biomarker testing can find out whether someone’s cancer has an EGFR gene change that can be treated with an EGFR inhibitor.

Biomarker testing may also assist you in locating a clinical trial for a novel cancer treatment that you may be eligible to participate in. Some studies recruit participants based on the biomarkers found in their cancer rather than the location of cancer’s onset. Basket trials are another name for this type of experiment.

For some other clinical trials, This testing is part of the study.  For example, studies like NCI-MATCH and NCI-COG Pediatric MATCH are using biomarker tests to match people to treatments based on the genetic changes in their cancers.

Is biomarker testing part of precision medicine?

Biomarker testing, often known as customized medicine, is an important aspect of precision medicine. Precision medicine is a type of medicine that tailors disease prevention, diagnosis, and therapy to your body’s genes, proteins, and other components.

Precision medicine in cancer treatment refers to the use of biomarkers and other tests to select treatments that are most likely to benefit you while avoiding treatments that are unlikely to help.

The idea of precision medicine isn’t new, but recent advances in science and technology have helped speed up the pace of this area of research. Scientists now understand that cancer cells can have many different changes in genes, proteins, and other substances that make the cells grow and spread. They have also learned that even two people with the same type of cancer may not have the same changes in their cancer. Some of these changes affect how certain cancer treatments work. 

Despite the fact that researchers are making progress every day, the precision medicine approach to cancer treatment is still not part of most patients’ routine care. However, it’s worth noting that even the “conventional” approach to cancer treatment (choosing medicines depending on the type of cancer, its size, and if it’s spread) is effective and tailored to each patient.

Biomarker testing

While biomarker testing itself is generally safe, there can be some potential side effects or considerations associated with the process. Here are a few:

  1. Physical Discomfort: Biomarker testing may involve procedures such as biopsies or surgical resections to obtain tumor samples for analysis. These procedures can cause temporary discomfort, pain, bleeding, or infection at the site of the procedure. However, these risks are typically minimized through the use of proper techniques and precautions.
  2. Tissue Insufficiency: In some cases, the amount or quality of the tissue sample obtained for biomarker testing may be insufficient for comprehensive analysis. This can limit the availability of information and potentially impact treatment decisions.
  3. False-Negative or False-Positive Results: Biomarker testing is highly sensitive, but there is still a possibility of false-negative or false-positive results. False-negative results may occur if the tumor does not possess the tested biomarker, leading to the exclusion of potentially effective targeted therapies. False-positive results may lead to unnecessary treatments or interventions that may not provide any benefit.
  4. Psychological Impact: The results of biomarker testing may reveal information about the aggressiveness of the cancer, prognosis, or potential treatment options. This information can have emotional and psychological impacts on patients and their families, causing anxiety, fear, or distress. It is essential to have proper counseling and support services in place to address these concerns.
  5. Financial Considerations: Biomarker testing and subsequent targeted therapies can be expensive. Insurance coverage, reimbursement, or out-of-pocket costs may vary, and financial considerations can influence treatment decisions or access to certain therapies.

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