Genetics & Genomic Testing

While not appropriate for every prostate cancer patient, genomic testing can provide a man and his care team with valuable information at various stages of disease management specific to whether the cancer is likely to be aggressive or indolent, thereby helping him to make an informed decision on how to best address his prostate cancer.

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Personalizing Your Prostate Cancer Treatment Through Genomics

Because every prostate cancer is different, treatment should not be “one size fits all.” Genomics provides unique information about the nature of a man’s individual prostate cancer that can’t be found in other clinical measures such as a PSA level and Gleason score. By looking at certain genes within the tumor tissue, genomic tests can help to predict whether cancer is low-risk and contained within the prostate or higher risk and likely to grow and spread.


1Cooperberg. 2010. JCO

With this information, a man and his care team can choose the most appropriate treatment. If the cancer is not the aggressive type, active surveillance may be an option to avoid or delay unnecessary treatments and their life-altering side effects. If the cancer is more aggressive, the best approach may require immediate treatment with surgery or radiation.

Genetics vs. Genomics

Genetics looks at specific genes responsible for inherited traits, such as hair or eye color or the risk for certain cancers. The study of genetics in prostate cancer is important because family predisposition may be responsible for five to 10 percent of all prostate cancers. A family history increases a man’s risk for prostate cancer by 60 percent.1 And the presence of the BRCA gene can be a high-risk indicator for prostate cancer in men as it is for breast cancer in women.2
2http://www.breastcancer.org/research-news/brca-mutations-up-cancer-risk-in-men

Genomics looks at how certain sets of genes interact and function, including their role in specific diseases. In the case of prostate cancer, a genomic test can help predict the aggressiveness of the tumor, enabling the patient to select the most appropriate course of care.

Genomic Tools for a Personalized Prostate Cancer Treatment Plan

In an effort to establish the risk level for a man’s prostate cancer, doctors have traditionally used prostate cancer characteristics such as PSA level, Gleason score, and tumor stage to estimate the aggressiveness of the disease and help guide treatment decisions. While these characteristics are helpful, they cannot fully determine the risk level of the cancer. The additional information provided by genomic testing can provide greater confidence in the development of a personalized treatment plan.

For men who’ve been newly diagnosed with early-stage or localized prostate cancer, where the cancer is still confined to the prostate, genomic testing of biopsied tissue can help to predict how the cancer will behave in the future and determine if it is low-, intermediate-, or high-risk. This information is useful for helping a man and his care team make the best treatment decision.

Biopsy and Imaging

There is no perfect approach for imaging with a biopsy; it’s evolving. While a multiparametric MRI can potentially identify areas of the prostate that appear to be cancerous, it is not able to detect all cancerous tissue that may be present, which can potentially be detected with the more common TRUS (transrectal ultrasound) guided biopsy. Typically, the initial biopsy is a TRUS biopsy. The multiparametric MRI may be used after an initial treatment with a rise in PSA to detect tissue that looks cancerous thereby avoiding multiple biopsies. As more data are accumulated, the optimal approach to biopsy may change.

Prostate Cancer Confusion

Unlike some diseases with a diagnosis that leads to a few treatment options, a diagnosis of prostate cancer requires a man and his care team to understand a multitude of tests and the implication of the test results, along with the option of active surveillance or a multitude of treatment options, and the potential side effects associated with each type of treatment.

In addition, there’s confusion and controversy over the test that’s used to diagnose prostate cancer. The prostate-specific antigen (PSA)–based screening for prostate cancer is currently only recommended by the U.S. Preventive Services Task Force (USPSTF) for men who are between 55 and 69 years of age, with the recognition that the decision on whether or not to have a PSA test should be specific to each individual and an informed decision following a conversation between a man and his physician. Much of the debate over the PSA test stems from the prevalence of over-treating the disease in the past.

Of course a man diagnosed with prostate cancer wants to avoid over-treatment and the resulting side effects that often include erectile dysfunction and incontinence. Conversely, he needs to know when his condition mandates a treatment rather than having the option of considering active surveillance.

Test Categories

The Following Genomic Tests Help Determine if an Initial or Repeat Biopsy is Needed:

TEST PROCEDURE RESULTS INSURANCE
4K Score Blood test that measures 4 markers that can be used in combination with DRE and PSA results Can help determine if a man has a high risk for developing an aggressive prostate cancer over the next 20 years and if so, a biopsy should be performed. If the risk is low, then no biopsy may be needed. The test does not provide an absolute yes or no. Rather, it provides a probability of having a high- or low-risk cancer. Currently only Medicare pays for this test, if bill is turned in to insurance, GENPATH will help with appeals (4 times), give patient CPT code for insurance, cost to insurance is $595, cost for self pay is $395
PHI (Prostate Health Index) Blood test that combines the PSA test, freePSA and Pro2PSA test Can help determine the odds that a patient will have prostate cancer on a biopsy. If the odds are high, a patient may want a biopsy but if the odds are low, he may choose to postpone a biopsy. Any doctor can order this test, but insurance questions would need to be answered by the doctor’s office
Progensa PCA3 Urine collected after a digital rectal exam (DRE) is analyzed to determine a PCA3 score Can help determine if a biopsy is necessary by providing a score that indicates the probability of finding prostate cancer in a biopsy; and can help men on active surveillance determine if prostate cancer is progressing. Currently, test is not sufficiently reliable to use in place of PSA test. No financial assistance, but patient should speak with his doctor
SelectMDx Test performed on tissue from initial prostate biopsy to determine the odds that cancer is present and another biopsy should be performed. Helps identify patients at increased risk for aggressive disease, thereby aiding in the selection of men for repeat prostate biopsy. Test is too new to determine a trend regarding insurance coverage

Genomic Tests to Consider When Choosing a Treatment:

TEST PROCEDURE RESULTS INSURANCE
4K Score Blood test that measures 4 markers that can be used in combination with DRE and PSA results Can help determine the odds that a man will develop metastatic disease in the next 20 years so it helps in trying to determine if treatment is necessary or active surveillance is appropriate. Currently only Medicare pays for this test, if bill is turned in to insurance, GENPATH will help with appeals (4 times), give patient CPT code for insurance, cost to insurance is $595, cost for self pay is $395
Decipher Measurement of the expression levels of 22 RNA biomarkers involved in multiple biological pathways across the genome that are associated with aggressive prostate cancer Test predicts the probability of developing metastases 5 years after surgery, which can help a person decide about additional therapy. Covered in most cases by insurance, financial assistance if requested, patient can call (888) 792-1601 – option 3
Oncotype DX Assay that analyzes prostate cancer gene activity to predict disease aggressiveness for patients with clinically low-risk prostate cancer (very low, low or intermediate NCCN-risk) prostate cancer Generates a Genomic Prostate Score (GPS) to indicate the likelihood of favorable pathology (low-grade [3+3, 3+4], organ-confined disease) It provides a value between 0-100; the higher the number, the greater the odds of having an aggressive cancer. Medicare covers this test for eligible patients, insurance coverage varies, assistance is available, contact the Genomic Access Program at 866-ONCOTYPE or visit this webpage
ProMark Tissue analysis of gene-expression Predicts the odds between 0-100% that a Gleason 3+3 or 3+4 cancer will behave aggressively. ProMark has specialists that will help with questions related to billing and with financial assistance for those with costs not covered by insurance, call ProMark Patient Assistance Program at (877) 743-3338 or visit this webpage
Prolaris Prolaris is a measure of how fast the cells in the prostate cancer tumor are dividing. It provides additional information beyond the Gleason score about the likelihood the cancer will behave aggressively. Measures the aggressiveness of the prostate cancer Only covered by Medicare Part B, they do offer financial assistance, call (855) 469-7765
PTEN Performed in a man with a biopsy showing Gleason Scores 3+3 and 3+4 to predict the odds of having aggressive disease PTEN/TMPRSS2:ERG molecular testing can help predict prostate cancer aggressiveness NA
SelectMDx Urine test that helps identify those patients who are likely to have prostate cancer that requires treatment rather than low-risk disease that would be appropriate for active surveillance Helps identify patients at increased risk for aggressive disease, thereby aiding in the selection of men for prostate biopsy NA

Genomic Tests That Analyze Tissue from the Prostate After Surgery (Prostatectomy):

If you have already been treated with surgery (radical prostatectomy) for your prostate cancer, genomic testing can help to predict if your cancer is likely to come back, or recur, helping you, your doctor and care team to decide if additional treatment is necessary. In this case, the genomic test is performed on either biopsy tissue or a tissue sample taken from your surgical procedure. It is important to talk to your doctor to find out if you are a candidate for a genomic test.

TEST PROCEDURE RESULTS INSURANCE
Decipher Measurement of the expression levels of 22 RNA biomarkers involved in multiple biological pathways across the genome that are associated with aggressive prostate cancer Test predicts the probability of metastasis after surgery and provides an independent assessment of tumor aggressiveness; information distinct from that provided by Gleason score or PSA Covered in most cases by insurance, financial assistance if requested, patient can call (888) 792-1601 – option 3
Oncotype DX Assay that analyzes prostate cancer gene activity to predict disease aggressiveness for patients with clinically low-risk prostate cancer (very low, low or intermediate NCCN-risk) prostate cancer Generates a Genomic Prostate Score (GPS) to indicate the likelihood of metastases and death within 10 years of a radical prostatectomy. Medicare covers this test for eligible patients, insurance coverage varies, assistance is available, contact the Genomic Access Program at 866-ONCOTYPE or visit this webpage
Prolaris Prolaris is a measure of how fast the cells in the prostate cancer tumor are dividing to generate an accurate assessment for cancer aggressiveness Measures how fast cancer cells are dividing, or the aggressiveness of the prostate cancer; may help to determine the likelihood of recurrence; 10-year mortality Only covered by Medicare Part B, they do offer financial assistance, call (855) 469-7765

Questions about genomic testing to ask your doctor:

  1. What is your experience with genomic testing in prostate cancer?
  2. If doctor indicates minimal experience: Is there a reason why you aren’t more engaged with genomic testing?
  3. What do you see as advantages and disadvantages?
  4. Is genomic testing appropriate for me? Why or why not?
  5. Which genomic tests are options for me?
  6. Which one do you recommend and why?
  7. How do we proceed to perform the test?
  8. How long will it take for me to receive test results?
  9. Will my insurance pay for the test and if not, how much will it cost me?

To start or join an online discussion about genomic testing, join the Us TOO Prostate Cancer Support Group and Discussion Community on Inspire at: https://www.inspire.com/groups/us-too-prostate-cancer/

For more information on prostate cancer treatment options, CLICK HERE.

For more information on side effects related to treatment, CLICK HERE.

Other Links:

General Genomic Testing Q&A

General Genomic Testing Infographic

Genomics Services for Oncologists

Articles on Genomics:

https://www.genome.gov/18016863/a-brief-guide-to-genomics/

https://www.genome.gov/27552451/what-is-genomic-medicine/genomic-medicine/

Publications:

https://www.journals.elsevier.com/genomics/

Videos:

https://www.youtube.com/watch?v=AUL6pi52D8o&list=PL7F1_Zi1asC1E7KjDP2lk8aLUhnDPIqrh&index=10

http://www.ustoo.org/Education-Videos

This web page has been developed to provide objective and balanced educational content on genomic testing that can provide information that may be helpful in making informed decisions on managing for prostate cancer. Content presented on the Us TOO website, and its related material, is being provided for information only and should not be considered to be an endorsement. In some cases, the content is provided, in part or in whole, by a third party. Readers should conduct their own research into any person, company, product or service, and consult with their loved ones and personal physician before deciding on any course of action. Information on the Us TOO website should not be considered to be a recommendation by Us TOO for any medical treatment, product, service or course of action. For medical, legal or other advice, please consult professional(s) of your choice.

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