Genetic testing for breast cancer: Psychological and social impact

By Mayo Clinic Staff

There’s a lot to consider when you’re thinking about getting a genetic test to find out if you carry one of the genes linked to breast cancer risk. You may already be thinking about the practical aspects of genetic testing, such as which test to undergo and how much it may cost.

It also can help to consider some of the psychological, emotional and social effects of your genetic testing results. Here are some things to think about as you decide whether genetic testing for BRCA1, BRCA2 or the many other genes related to breast cancer is right for you.

If genetic testing shows that you carry a gene linked to an increased risk of breast cancer, you might have a range of responses to learning your test results. These include:

• Anxiety about developing cancer. Carrying an altered gene that’s linked to breast cancer doesn’t mean you’ll definitely get cancer. Test results can’t find your exact level of risk. They can’t say when cancer might develop or how aggressive the cancer could be.
• Relief about knowing your risk status. You may view your test results in a positive light: Now you know what you’re up against. You can increase monitoring for signs of cancer or take steps to lower your risk, such as preventive surgery or medicines. You also have the potential to inform and educate family members who may be affected.
• Strained family relationships. Some of your relatives may not want to know that a gene linked to increased cancer risk has been found in the family. But it may be hard to not share this information with close family members if you’re planning proactive measures, such as preventive surgery. Take time to think ahead about how, or even if, you’ll share your test results with family members.
• Worry about passing a gene change to your child. Learning your genetic status could prompt fears that your children may have inherited the gene. If you learn that you carry a gene linked to breast cancer, this can raise questions and anxiety about when to discuss the results with your children.
• Stress over major medical decisions. Receiving a positive test result means you’ll want to consider which cancer prevention and early detection strategies are best for you. Discussing options with a genetic counselor, breast specialist or oncologist can help guide you.

Talk about these or any other concerns with your genetic counselor or another member of your healthcare team.

Learning that genetic testing found no gene changes linked to an increased risk of breast cancer can bring a range of emotions. These include:

• Relief about your results. You may feel a strong sense of relief if your test result is negative for gene changes linked to breast cancer that have been found in other family members. You also may feel relief if testing does not find a hereditary gene change despite a strong family history of breast cancer. But given your family history, you should work with your healthcare professional to make a screening plan based on your particular situation.

  It is important not to let a negative test result create a false sense of security. You still face the same risk of cancer as the general population or a slightly higher risk based on your family history.

• Survivor guilt. Testing negative for gene changes linked to a higher risk of breast cancer can cause feelings of guilt. This is especially true if other family members do carry the gene changes and face an increased cancer risk.
• Uncertainty about your cancer risk. A negative test result doesn’t mean you have no risk of cancer. It may be difficult for your healthcare professionals to find your precise level of risk.

Sometimes, testing finds gene changes that haven’t been seen in other families with breast cancer, and there isn’t enough information to know if these gene changes increase cancer risk. This type of result is known as a variant of uncertain significance.

Learning that you have a genetic variant of uncertain significance may lead to:

• Confusion and anxiety about your cancer risk.
• Frustration because there is not enough clear information about your risk of cancer.
• Challenges with making decisions about cancer screening, treatment and prevention.

A variant of uncertain significance may be reclassified over time as more information becomes available. Your genetic counselor may watch for these updates and let you know if the classification changes.

Many people feel anxious at the thought of learning that their risk of a serious disease may be higher than average. In fact, some people decide they would rather not know and choose to forgo testing altogether. That’s a valid choice.

It’s also common to feel sad, anxious or even angry if your test results are positive. But research shows that, over time, most people cope well with the knowledge of an increased cancer risk and don’t experience major distress over the test results.

If you test positive for a gene that increases your risk of breast cancer, know that you have time to process your results and consider what it means for your future. If you’re thinking about surgery to reduce your risk of cancer, research and understand all your options. Sometimes it’s helpful to seek a second opinion or meet with a breast specialist. An additional perspective can help you weigh the risks and benefits of the available options for your individual situation.

For many people, simply knowing their risk status eases psychological and emotional distress. They can be proactive and make a personalized plan to manage their increased risk.