Understanding Multi-Gene Panel Testing

This video explains what multi-gene panel testing is and what to expect when having genetic testing.

Hereditary cancer can be caused by mutations in different genes. For example, breast cancer can be caused by a mutation in the BRCA1 or BRCA2 genes, or by a mutation in certain other genes.

We can test for mutations linked to hereditary cancer one gene at a time, or we can test multiple genes at the same time using the same saliva or blood sample. This is called multi-gene panel testing.

We may recommend a specific multi-gene panel test for you based on your personal and family history of cancer. For example, if there's a history of breast or ovarian cancer in your family, we may recommend a hereditary breast and ovarian cancer multi-gene panel to test for multiple mutations that can be linked to these types of cancers.

Multi-gene panels can test for gene mutations linked to many types of cancers, including breast, colon, ovarian, pancreatic, and prostate cancer. We'll give you more information about the multi-gene panels we recommend for you.

If you decide to get genetic testing, there are three types of results you can get.

A negative result means we didn't find any mutations. This may also be called a normal result. This can be reassuring, but it's important to remember that our current technology isn't able to find every gene mutation. We also haven't discovered every gene mutation that may increase a person's risk for cancer.

Even if you get a negative result, it's important to follow your healthcare provider's cancer screening recommendations. You may still be at an increased risk for cancer based on your family history alone.

A positive result means we found a mutation that leads to an increased risk for certain cancers. A mutation may explain your or your family's history of cancer.

Your genetic counselor will be able to give you more specific information about your cancer risks. They'll also talk with you about your medical care and how the mutation may affect your family.

Another type of result you may get is called a variant of uncertain significance.

We all have variants in our DNA. Usually, they simply make us unique from one another and don't cause any health problems. Sometimes, a variant may cause health problems, like an increased risk for cancer. These are called mutations.

But sometimes, we come across a variant we haven't learned much about. We call this a variant of uncertain significance, or a VUS.

As we learn more about how genes work, we can also learn if a certain VUS is normal and harmless, or if it's a mutation that increases your risk of cancer or other health problems.

Most VUSs are found to be normal and harmless over time. For that reason, we don't use this result to make medical decisions or recommend your blood relatives have genetic testing to look for them.

A VUS isn't a positive result and shouldn't be used like a positive result. We'll encourage you to check with us over time to see if we have more information about it.

Your risk for cancer depends on the type of mutation you have. For some mutations, the risk for cancer may be high. For others, the risk may not be as high, but is still higher than most people's risk.

While we know about the cancer risks linked to many mutations, there are some mutations we know less about, but doctors and scientists are still learning more with time.

It's important to know that many mutations are linked to more than one type of cancer. For example, someone with breast cancer may have genetic testing to look for mutations in the BRCA1 and BRCA2 genes. These mutations also increase the risk for ovarian, prostate, and pancreatic cancer.

It's also important to remember that having a gene mutation doesn't mean you will develop cancer. It means that you, and possibly your blood relatives, have a higher risk of developing cancer than most people.

Your results won't tell you if you currently have cancer or if you'll definitely get cancer in the future.

Knowing you have a higher risk for cancer can help you and your family members take action to help prevent cancer or catch it as early as possible, when it's often easier to treat.

We may recommend you start cancer screenings at a younger age, have them more often than most people, or have specialized screenings to help find cancer as early as possible.

We may also recommend you consider having surgery, take certain medications, or make changes to your lifestyle to try to keep cancer from developing.

Even if you have cancer, knowing you have a gene mutation may be helpful for making treatment decisions or preventing future cancers.

If you choose to have genetic testing, your genetic counselor will review your results and options with you. They'll personalize their recommendations for you based on individual factors, including your sex assigned at birth.

Remember, blood relatives, such as your biological full or half siblings, parents, and children, may share mutations. If you have a mutation, your blood relatives may want to have their own genetic testing done to find out if they have the same mutation. This information can let them know their own cancer risk and what they can do to manage their care.

We may recommend that your blood relatives who have a history of cancer have their own genetic testing, even if your results are negative or show a variant of uncertain significance. It's possible that they have gene mutations, even if you don't.

When deciding whether to have genetic testing, some people may consider how they'd use their genetic test results. For example, would they change how often they screen for cancer or consider surgery to prevent cancer? Are they willing to speak with their blood relatives about genetic testing and share their test results?

Remember that genetic test results may affect your siblings, parents, children, and other relatives.

Before we ask you to consider whether you're interested in moving forward with genetic testing, we'll give you more information about the genes we recommend you have tested, the specific cancer risks linked to them, and the general screening recommendations for them.

If you decide to get genetic testing, you'll first sign a consent form that reviews the risks and benefits of testing. Then, you'll make an appointment to have your blood drawn or have a saliva collection kit mailed to your home.

When the lab gets your blood or saliva sample, we'll ask you to schedule your genetic counseling consultation. During your consultation, we'll talk with you about your results and our cancer screening or prevention recommendations for you.

We'll also talk about what your results mean for your family. It usually takes a few weeks to get your results back.

We hope you found this information helpful. If you have any questions, call our office at 646-888-4050.