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Genetic Testing – What it Means for You and Your Family

What are genes?

People have more than 20,000 genes, which they inherit from their parents.

Genes are made of DNA and act like a blueprint, telling your body how to grow and work.

Every cell in your body has a copy of each of your genes.

What is a germline gene change?

A permanent change in the DNA of a gene that can be passed from a parent to a child.

Some germline gene changes increase your chances of getting prostate cancer or other cancers.

You may hear terms like ‘inherited mutation’ and ‘inherited pathogenic variant.’ These all mean the same thing: a harmful inherited (germline) gene change that can increase your cancer risk.

What is germline genetic testing?

A blood or saliva test that checks your healthy cells for harmful germline gene changes.

Testing positive does not mean you will definitely get cancer, but it does mean your chances are above average.

Knowing this can help you or your loved ones be proactive — like getting earlier or more frequent cancer screenings or making healthy lifestyle changes that can reduce cancer risk.

How can germline genetic testing help patients with prostate cancer?

If you have prostate cancer, germline testing may help show:

Whether you may be at increased risk for certain other cancers.
Whether your family may be at increased risk, so they can act to protect their health.
Which treatments may work best if you have advanced (metastatic) disease.

Should everyone who has prostate cancer consider germline testing?

Consider it if you have:

Metastatic or regional prostate cancer (has spread to your lymph nodes or distant organs).
High or very high-risk localized prostate cancer (based on your PSA, Grade Group and tumor stage).
Ashkenazi Jewish ancestry.
A close blood relative* (first-or second-degree) with: high-risk or advanced prostate cancer, breast cancer by age 50, male breast cancer, or ovarian or pancreatic cancer.
Prostate or breast cancer in at least 3 close blood relatives on the same side of the family, including you.

*Close blood relatives include parents, siblings, children, grandparents, and aunts or uncles.

Germline testing may also be considered if you had prostate cancer diagnosed by age 55, or if your pathology report (prostate cancer tissue analysis) shows an intraductal or cribriform pattern.

For healthy people, germline testing is recommended or strongly considered if a close blood relative fits any of the descriptions above.

How can I get germline testing?

Start by asking your doctor if it’s right for you. If needed, share the above recommendations.

If germline testing is recommended, ask for a multigene or ‘broad-panel’ test to test many different genes at once. Some of these genes and the cancers they’re linked to:

BRCA2, BRCA1 — prostate, breast, ovarian, and pancreatic cancer.
ATM, PALB2 — prostate, breast, and pancreatic cancers.
CHEK2 — prostate and breast cancer (and possibly others),
HOXB13 — prostate cancer.
Lynch genes (MLH1, MSH2, MSH6, PMS2, EPCAM) — prostate, colorectal/colon, endometrial/uterine, and other gastrointestinal (GI) cancers.

How much does a germline test cost?

Insurance often covers germline testing for patients with prostate cancer. Ask your care team to check. Many labs also offer financial-assistance programs.

If you need to pay the full cost yourself, the cash price is usually about $200-300 (U.S. dollars).

I tested positive for a harmful germline gene change. What should I do?

This may feel overwhelming at first, but you are not alone.

Schedule a visit with your doctor or a genetic counselor to discuss what your results mean for you and your family. Genetic counselors specialize in these tests and can be very helpful.

It may also help to bring a list of questions to your appointment, and to ask a friend or family member to come with you for support.

What about doing a germline test at home?

Home kits can miss gene changes that matter for you and your family. If you already used a home test and it shows a harmful germline gene change:

Seek genetic counseling.
Ask for a confirmatory clinical germline test.
Discuss the results and next steps with your genetic counselor.

What about my family?

f you test positive for a harmful gene change, there is a chance your family members carry it, too. Open conversations about your results can help them act to protect their health.

These gene changes affect people of all genders, so it’s not only sons and grandsons who need to know. Ask your doctor or genetic counselor to help you decide who to tell and what to say.

Once informed, family members can then work with their own doctor or genetic counselor to:

Decide if they need germline testing themselves.
Understand their test results.
Plan next steps, such as earlier cancer screenings or healthy lifestyle changes.

Telling family members may feel difficult, but it can help save the lives of those you love.