Does everyone with prostate cancer need genetic testing?  No.  Many men are diagnosed with low-risk or intermediate-risk localized cancer, cancer that may not need to be treated immediately or maybe even ever.  But as we discussed in Part 1 of my discussion with Oregon Health Sciences University medical oncologist  Alexandra Sokolova, M.D., some men really do need it — and they and their families can benefit from it.  

Sokolova, whom I interviewed for the Prostate Cancer Foundation’s website, says you should consider germline testing if:

• You were diagnosed with high-risk localized prostate cancer;
• Your Gleason score was 8 or higher;
• Your PSA was over 20 at diagnosis;
• You were diagnosed with stage T3 cancer (which extends past the prostate or has spread locally); or if you were diagnosed with metastatic prostate cancer, which has spread to sites away from the prostate;
• Your pathology report shows evidence of intraductal carcinoma or cribriform glands, findings associated with more aggressive cancer.

Family history is a red flag, too:  You should also consider germline testing if your family history includes:

One or more close relatives diagnosed with breast, pancreatic, ovarian, colorectal, or prostate cancer at age 50 or younger; or a relative diagnosed with metastatic, high-risk, or very high-risk prostate cancer;

Two or more close relatives diagnosed with breast cancer or prostate cancer at any age;

Three or more close relatives with Lynch syndrome, a hereditary disorder that raises risk of developing many forms of cancer, particularly colorectal and endometrial cancer;

A family history of Li-Fraumeni syndrome (also known as SLBA, for inherited predisposition to Sarcoma, Breast,Leukemia, and Adrenal cancers);

You are of Ashkenazi Jewish ancestry;

You have a known family history of a germline mutation;

You have a personal history of (male) breast cancer.

How is Germline Testing Done?

            It’s not hard at all, says Sokolova:  “You can have germline testing through a blood test, or you can spit in a tube.  This test can be ordered by your doctor, or you can order it yourself,” through companies such as Color Health or Invitae (through Labcorp).  There are also research websites, where patients can register themselves. “The test gets sent to your house, you spit in the tube, send it back and get the results online,” says Sokolova.  One of these is through the PROMISE study.  “If you have prostate cancer, you can register with www.prostatecancerpromise.org and get free genetic testing.”

            **Please note** Here are some points to consider:

Not all online genetic testing is the same.  Some tests marketed directly to consumers are “considered recreational, and lack the ability to detect clinically important mutations,” says Sokolova.  Clinical genetic testing looks for a larger panel of hereditary genes, so talk to your doctor, do your research, and make sure you know what kind of test you are getting.   Also:

“If you got genetic testing 20 years ago, it’s worth talking to your doctor about repeating the testing, because it has gotten better over the years,” Sokolova adds.

            Protect yourself.  It is against the law for your health insurance company or workplace to discriminate against you because of any risks turned up in genetic testing.  But life insurance and disability insurance are not protected.  Therefore, before your family members undergo cascade testing, especially younger relatives who might not have thought much about life and disability insurance, they “should consider getting those policies in place beforehand,” Sokolova suggests.  Learn more about the Genetic Information Nondiscrimination Act (GINA) here.

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The Turning Point in Prostate Cancer Genetics

There was an earthquake in the prostate cancer community on July 6, 2016.  That was the day a landmark study, which I’m proud to note was funded largely by the Prostate Cancer Foundation, was published in the New England Journal of Medicine.  An international team of investigators found germline mutations in 16 genes, including BRCA, ATM, CHEK2, BRCA1, RAD51D, and PALB2.  These mutations were significantly higher in men with metastatic prostate cancer than in men with localized disease.  Because of this work, genetic tests now routinely look for these faulty genes in men with metastatic prostate cancer.

In addition to the book, I have written about prostate cancer on the Prostate Cancer Foundation’s website, pcf.org.  I firmly believe that knowledge is power.  Saving your life may start with you going to the doctor and knowing the right questions to ask.  I hope all men will put prostate cancer on their radar. Get a baseline PSA blood test in your early 40s, and if you are of African descent, or if cancer and/or prostate cancer runs in your family, you need to be screened regularly for the disease.  Many doctors don’t do this, so it’s up to you to ask for it.  I am now adding, because people are being diagnosed with many kinds of cancer at younger ages than ever:  If you have cancer in your family, ask your doctor for a baseline PSA test in your 30s.  If you are getting blood work anyway, it’s just one more box for the doctor to check.  Then, to see if your number is right for your age group, refer here.  

©Janet Farrar Worthington