Chapter 4 - Genetic and genomic testing

4.1 Genetic and Genomic Testing

At its most basic understanding, cancer is caused by changes, or alterations, to a cell’s genetic code. These alterations change the way the cell behaves, including when it grows, divides, or dies. Cells that are unable to be repaired by the body can lead to cancer and cancerous tumors. Advancements in prostate cancer treatment guidelines now include genomic and genetic tests to help doctors understand different aspects of your cancer to better personalize your care.

What is Genomic Testing ?

Since every cancer is unique, genomic tests, like Prolaris ® look at the cancer to see how it is behaving and how aggressively it is growing. This information is then used to inform patients about their risk of dying from prostate cancer or cancer spreading outside of the prostate into other areas of the body.

This personalized information will help you and your doctor plan out the best treatment strategy for you. For example, if you have a slow-growing cancer you may not need treatment right away or at all. Your doctor may recommend actively monitoring your cancer which could help you avoid the side effects that treatment could cause. Faster-growing cancers may need to be treated more aggressively to give you the best possible outcomes. Genomic tests can also tell if you will respond favorably to certain therapies, like hormone therapy.

What is needed to perform the test?

Genomic testing is preformed on a small sample of cancers tissue. If you already have a prostate cancer diagnosis, no additional biopsy is needed. If you do not yet have a diagnosis, your doctor will perform a biopsy to remove a sample of tissue needed for these types of tests.

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Germline Testing

Most cancers develop from random mutations, but up to 17% are inherited, or hereditary. Certain inherited genetic mutations can make it more likely that someone with the mutation will get cancer, as well as develop it earlier or even develop multiple cancers in their lifetime.

Two types of gene mutations are important in cancer:

Random —the mistakes that occur in DNA by chance and are repeated as the cell divides. These mistakes are more likely to accumulate as you get older. Being exposed to radiation or certain chemicals can also make genetic changes more likely. It's important you share any possible exposures with your doctor.

Hereditary or inherited —the genetic mutations a person is born with that are passed on by the person’s father, mother or both through generations.

Did you know up to 1 in 6 3 men with prostate cancer have a genetic mutation that may have caused their cancer?

Prostate cancer may be a hereditary cancer

Hereditary cancer occurs when a gene mutation is passed down from parent to child. People with hereditary cancer mutations in their family are more likely to have relatives with the same type or other related types of cancer.

Hereditary prostate cancer is generally more aggressive than nonhereditary types, which means that early detection, along with new treatment options, can be lifesaving. Having hereditary cancer can also mean a higher risk for developing more than one cancer and those cancers often occur at an earlier age.

How does genetic testing work?

Genetic tests use next-generation sequencing technology to analyze small samples of blood or saliva to check for actionable mutations that may exist in every cell of your body – not just your cancer cells. This information will help your physician further customize your cancer care and is the same type of genetic testing that women with breast cancer and men and women with colon cancer routinely get to help customize their treatment plans.

Is genetic and genomic testing affordable?

Because genetic test results are used by patients and clinicians to make medical treatment decision, there is typically broad insurance coverage for these tests.

How can ge netic testing change treatment decisions?

Regardless of where you are in your prostate cancer journey, genetic testing can tell you if you have any changes that could cause your disease to be more aggressive or increase your risk of developing a secondary cancer. Genetic testing can also help qualify you for new prostate cancer medications should your cancer spread or if you already have metastatic disease.

Your family could also benefit from genetic testing

Your genetic test results could also help your parents, brothers, sisters, sons, and daughters. If testing identifies a mutation, there is a 50% chance that related family members also have the mutation. Armed with the knowledge that a mutation exists; family members can proactively make life changing medical decisions that could potentially save their lives.

Medical societies that specialize in prostate cancer treatment guidelines strongly recommend genetic testing if you meet any of the following criteria 4 :

Metastatic prostate cancer

High-/Very high-risk prostate cancer

• Gleason score 8 or above

Gleason score 6 or 7 and one of the following:

• Ashkenazi Jewish ancestry

• 1 family member with high-risk or metastatic prostate cancer

• 1 family member with ovarian cancer

• 1 family member with pancreatic cancer

• 1 family member with breast cancer ≤ 50 years old

• 2 family members on the same side of the family with breast or prostate cancer at any age

See how genetic and genomic tests impact real patients’ lives by clicking below: