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Genomic Testing & Biomarkers

What Are Genomics?Genetics-vs-Genomic

Genomics is the study of all the genes in the genome and their interactions with the environment. This is related to but not the same as genetics, the study of individual genes and inherited traits from one generation to the next.

The study of genetics in prostate cancer is important because family predisposition may be responsible for 5-10% of all prostate cancers1. A family history increases a man’s risk for prostate cancer by 60%.

Genomics in prostate cancer looks at how certain sets of genes in the prostate cancer tumor interact and function. The activity of these genes can then influence the behavior of the tumor, including how rapidly it is likely to grow and spread.

What is Genomic Testing in Prostate Cancer?

Genomic testing is done on cancerous tissue taken from the prostate in order to provide information about how your prostate cancer might behave. It can be performed on both biopsy tissue and on tissue from an entire prostate following a prostatectomy. Genomic testing is useful for helping prostate cancer patients and their doctors decide on a treatment, so these tests are most helpful for those who are newly diagnosed with prostate cancer that is still confined to the prostate. However, men who have had surgery and want to understand their risk of recurrence may also find this information helpful. By looking at the genetic makeup of the prostate cancer, genomic tests may help predict whether a person’s prostate cancer will grow slowly or aggressively.

What Can Genomic Testing Tell Me?

In early-stage or localized prostate cancer, where the cancer is still confined to the prostate, there are three types of risk categories:

  • Low-risk prostate cancers that are unlikely to grow or spread for many years
  • Medium/intermediate-risk prostate cancers that are unlikely to grow or spread for a few years
  • High-risk prostate cancers that may grow or spread within a few years

Genomic testing can help men find out their risk category, and therefore which treatment options are available to them.

Dr. Daniel Spratt provided a Biomarkers & Personalized Medicine in one of the most popular sessions during the 2022 ZERO Prostate Cancer Summit! 

Biomarker Testing and Precision Medicine 

Biomarker testing and precision medicine are somewhat newer terms in the cancer space. Biomarker testing looks for genes, proteins, and tumor markers that tell us more about your specific cancer. Biomarkers can help doctors diagnose cancer and monitor cancer, and can also affect how some treatments will work for you. 

Prostate specific antigen (PSA) is the most widely used prostate cancer biomarker but new and emerging blood, urine, and tissue biomarkers are also now available. The prostate health index, or PHI, as well as the 4KScore, are newer biomarker tests that help in diagnosing prostate cancer and identifying more aggressive disease, which also may reduce the number of prostate biopsies performed in men with low PSA levels. 

Biomarker testing, also called comprehensive genomic profiling (CGP), tumor testing, molecular profiling, tumor subtyping, or somatic testing, uses a single test to examine a person’s genes. The test looks for mutations in genes that are relevant in cancer and that may drive cancer growth. Some of these biomarkers tell your doctors how aggressive your prostate cancer might be. Biomarker testing may help you and your doctor better understand your particular cancer and choose the best treatment option for you. 

Biomarker testing is not the same as genetic testing. Genetic testing tells you which genes have been passed on to you by your parents, or inherited.

Biomarker and Genomic Tests in Prostate Cancer

It’s important to talk to your doctor to find out if you are a candidate for a genomic test. There are several tests available today. Current tests include:

  • FoundationOne Liquid CDX:
    • FoundationOne Liquid CDx is an FDA-approved companion diagnostic that analyzes guideline-recommended genes from a simple blood draw. It is the only FDA-approved blood test to analyze over 300 genes—making it the most comprehensive FDA-approved liquid biopsy on the market. With more targeted therapy options for prostate cancer now available, this comprehensive genomic profiling can help guide treatment strategies and help predict how patients will benefit from those treatments.
  • Oncotype Dx:
    • This test looks at the activity of certain genes in the prostate tumor and assigns a personalized result, called the Genomic Prostate Score, to each case. This number predicts the chance that the disease will be more aggressive and spread to other parts of the body if left untreated. This is used after a confirmed prostate cancer diagnosis of low-risk disease and uses biopsy tissue to predict the likelihood of future growth and spread. It is helpful for those considering active surveillance.
  • ProstaVysion:
    • This test looks at a sequence of certain genes and provides a personalized genetic panel to determine aggressiveness. This is used after a confirmed prostate cancer diagnosis and uses biopsy tissue to predict the likelihood of future growth and spread. It is helpful for those considering active surveillance.
  • Prolaris Test:
    • The Prolaris test measures how fast your cancer cells are dividing to predict aggressiveness. This is used after a confirmed prostate cancer diagnosis of low-risk disease and can use both biopsy tissue and tissue from radical prostatectomy to predict the likelihood of metastasis, biochemical recurrence, and death from prostate cancer. It is helpful for men deciding on a treatment option or trying to decide on additional treatment after surgery.
  • Decipher:
    • Decipher Biopsy is available for patients diagnosed with localized prostate cancer at the time of biopsy. Decipher Biopsy can help men and their doctors determine if it may be safe to consider active surveillance, treatment, or a combination of therapies. No additional procedure for the patient is needed to run this test.
    • Decipher Post-Op predicts the likelihood of prostate cancer metastasis for men with adverse pathology after radical prostatectomy. The test can help patients and their doctors decide if additional treatment is needed after surgery. Decipher Post-Op uses a tissue sample that was removed during surgery, so no additional procedure for the patient is needed.


Additional Genomic Testing Video Resources:

Watch Dr. Lowentritt of Chesapeake Urology discuss genomic testing for prostate cancer in the video below:

Bryce Olson, a 45-year-old husband, and father of a young daughter was recently diagnosed with stage 4 metastatic prostate cancer. Hear how he is staying ahead of his cancer by finding the genetic factors that fuel it through the new world of personalized, molecular treatment.


[1] http://www.cancer.org/acs/groups/content/@research/documents/document/acspc-047079.pdf