Understanding Genetic Testing for a Gene Mutation Found in Your Family

This video explains what to expect when having genetic testing for a gene mutation found in your family.

When we say family, we mean family members related to you by blood.

If you decide to have genetic testing, we'll check your DNA to see whether you carry the gene mutation that runs in your family.

There are two types of results you can get.

A negative result means we didn't find the mutation in your DNA, so your risk of getting the cancer that runs in your family is most likely the same as an average person's risk of getting that cancer. This may also be called a normal result.

A positive result means we did find the mutation in your DNA. This means you have an increased risk for certain cancers linked to that mutation.

In most cases, getting tested for a mutation your blood relative has is enough to figure out your hereditary cancer risk. In some cases, we may recommend more testing. This could be because there may be a mutation on the other side of your family that we should test for, or because the mutation that runs in your family may not fully explain your family's cancer history.

If we recommend more testing, we'll give you more information to help you decide if you'd like to move forward with testing.

The chance that you share the mutation your blood relative has depends on how closely related you are to them. If one of your biological parents, siblings, or children has the mutation, that means you have a 50% chance of having the mutation too.

It's 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 genetic test 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.

We'll give you more information about the specific types of cancer that are linked to the gene mutation that runs in your family and what screening we recommend.

Remember, blood relatives, such as your biological full or half siblings, parents, and children, may share mutations. If you have a mutation that increases your risk for cancer, your blood relatives may also want genetic testing to see if they have the mutation too.

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.