Genomic Testing for Cancer Biomarkers

What is Genomic Testing?

Genomic testing is a form of medical exam that analyzes all of a person’s genes. Each human being has about 20,000 genes, which carry the instructions for making the proteins that form our bodies and allow them to function. Collectively, these genes are called the genome. The purpose of genomic testing is to identify any alterations in the genome that can affect health, which are known as biomarkers.  

What’s the Difference Between Genomic Testing and Genetic Testing? 

The terms “genomic testing” and “genetic testing” are often used interchangeably, but they are not the same thing. The purpose of a genetic test is to identify alterations, or mutations, in a specific inherited gene. For example, you may have heard of the BRCA gene mutation. An alteration in one form of this gene, known as a BRCA1 mutation, increases the risk for breast and ovarian cancer, as well as certain other malignancies. A mutation in the BRCA2 gene (sometimes called BRCA2 positive) also increases the risk.  

Genomic testing is a more complex process that looks not only for inherited mutations, but also for mutations that occur during one’s lifetime, which may be caused by a person’s environment or habits (such as exposure to toxins or smoking). Genomic tests also examine how different genes interact and the proteins they produce, which can all have a significant influence on cancer risk. This process was once costly and time consuming, but technology called next-generation sequencing has made it faster and more affordable.  

What Can I Learn From My Test Results? 

Patients with biomarker-based cancers may be candidates for targeted therapies that take aim at specific alterations in the genome that promote cancer, or immunotherapies that boost the body’s defenses against the growth and spread of malignant tumors. Patients with certain biomarkers may also be candidates for clinical trials.  

What Are Clinical Trials? 

A clinical trial is a research study in which scientists evaluate the effectiveness and safety of new medical treatments. That includes new drugs or novel combinations of drugs for treating cancer and other diseases. Every drug approved by the U.S. Food and Drug Administration had to be tested first in clinical trials.