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Researchers have learned a lot about the thousands of genes in our cells and how changes in some of them can be linked to cancer. Testing for these changes can help identify your risk for certain cancers, help with early detection or prevention, and guide treatment decisions.

What are genomics and genetics?

Genomics and genetics are related fields that study genes and gene changes, but they focus on different things.

• Genetics is the study of genes and their roles in inheritance. It looks at individual genes and how they’re passed down from one generation to another.
• Genomics is the study of a person's entire set of genes (genome). It looks at how these genes interact with one other and with the person's environment.

Genomics helps researchers learn more about certain genes and gene changes found in cancer cells, which is leading to new cancer treatments aimed at these changes. It is also becoming an important part of care for many people with cancer.

What is genomic testing?

When it comes to cancer, genomic testing refers to tests done to look at the genome (or parts of the genome) inside a person's cancer cells to find gene changes that make them different from normal cells. These gene changes are often not inherited. They usually occur at some point during a person’s lifetime and are found only in the cancer cells.

This testing can provide important information, such as how fast a cancer might grow and whether certain treatments, such as targeted therapy or immunotherapy, are likely to be effective.

Genomic testing is called by different names, including:

• Genomic profiling
• Genome sequencing
• Biomarker testing
• Tumor testing, tumor genetic testing, tumor marker testing, or tumor subtyping
• Molecular testing or molecular profiling
• Next-generation sequencing

Testing is often done on a sample of the tumor from a biopsy or surgery, but it can sometimes be done using blood, saliva, or other body fluids.

Genomic testing might be used in other situations as well. Learn more about how genomic testing can be important for people with cancer.

How is genetic testing different from genomic testing?

Genetic testing looks for changes in a person’s individual genes that affect their risk of cancer. It can be done by looking for changes in only 1 gene or through genetic testing panels looking for changes in many genes.

It can be done in someone prior to a diagnosis of cancer (predictive genetic testing) or after a cancer diagnosis to help find out if the cancer was a result of an inherited gene change. This information can help assess the risk of the cancer coming back (recurrence), help guide treatment options, and provide useful information for family members about their own risk.

Genetic testing is most often done on a blood or saliva sample but can be done on other samples as well.