Genetic testing for breast cancer: Psychological and social impact

There’s a lot of information to take into consideration when you’re thinking about getting a genetic test to find out if you carry one of the breast cancer susceptibility genes. You may have already considered the practical aspects of genetic testing, such as which test to undergo and the potential costs.

But also consider some of the psychological, emotional and social implications 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 reveals that you carry a gene with changes that increase your risk of breast cancer, you might experience a range of responses to learning your test results, including:

• Anxiety about developing cancer. Carrying an altered gene doesn’t mean you’ll definitely get cancer. Test results can’t determine your exact level of risk, at what age you may develop cancer or how aggressively the disease might progress.
• Relief of knowing your risk status. You may view your test results in a positive light: Now you know what you’re up against. You can step up cancer surveillance efforts or take risk-reducing steps, such as preventive surgery or medications. 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 there’s been a worrisome gene detected within the family. But it may be hard to keep the truth from close family members if you’re planning proactive measures, such as preventive surgery. Give thought beforehand to how — or even if — you’ll share your test results with family members.
• Worry about passing a gene to your child. Learning your genetic status could prompt fears that your children may have inherited the gene. If you learn that you are a carrier of a gene linked to breast cancer, this can lead to more questions and anxiety about when is the best time to discuss the results with your children.
• Stress over major medical decisions. Receiving a positive test result means you’ll want to consider cancer prevention and early detection strategies that 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 other health care provider.

Learning that genetic testing found no gene changes that could increase breast cancer risk might produce feelings of:

• Relief that you’re less likely to have an increased cancer risk. If your test result is negative for gene changes that have been identified in other family members, you may feel like a huge weight has been lifted off your shoulders. However, given your family history, you’ll want to develop a screening plan with your health care provider that is right for you based on your particular situation.

  It would be a mistake to let your negative test results lull you into a false sense of security. You still face the same level of cancer risk as the general population — or maybe slightly higher because of your family history.

• “Survivor” guilt. Testing negative for gene changes that increase the risk of breast cancer may bring on feelings of guilt — especially 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 health care providers to draw definite conclusions about your risk of cancer.

In some instances, testing identifies gene changes that haven’t been seen in prior families with breast cancer, and there isn’t enough information about the gene changes to know whether they cause an increased risk of cancer. This is known as a variant of uncertain significance.

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

• Confusion and anxiety about your cancer risk
• Frustration over the lack of accurate individualized cancer risk information
• Challenges with making cancer screening, treatment and prevention decisions

Most people would be anxious if given the chance to find out whether their risk of a serious disease was higher than average. In fact, you may decide that you’d rather not know, and just forgo testing altogether. That’s a valid choice.

It’s also common to experience sadness, anxiety or even anger if your test results are positive. However, research shows that, in the long run, most people cope well with the knowledge of an increased cancer risk and don’t experience significant 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 come to terms with your results and consider what it means for your future. If you’re thinking about surgery to reduce your risk of cancer, take your time to research and understand all your options. Sometimes it’s helpful to seek a second opinion or meet with a breast specialist who can help you weigh the risks and benefits of the available options based on your individual situation.

For many, simply knowing their risk status eases psychological and emotional distress. They can be proactive and establish a personalized plan to deal with their increased risk.