Genetic testing for breast cancer: Psychological and social impact

Thinking about getting a genetic test to find out if you have a mutation in one of the breast cancer susceptibility genes — BRCA1 or BRCA2? First, consider whether you're in the small minority of women for whom the test may be helpful.

The psychological, emotional and social implications of genetic testing also are worth considering, both for yourself and for members of your family.

Positive test results

If genetic testing reveals a BRCA gene mutation, you might experience a range of responses to learning your test results, including:

• Anxiety about developing cancer. Having an altered BRCA gene doesn't mean you'll definitely get breast or ovarian cancer. Test results can't determine your exact level of risk, at what age you may develop cancer, how aggressively the disease might progress or how your risk of death from cancer compares with other women's risk.
• 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 gene mutation 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 test results with your family members.
• Guilt about passing a gene mutation on to your child. Learning your genetic status may stir fears that your child or children have also inherited the gene mutation.
• Stress over major medical decisions. Receiving a positive test result means you'll need to decide the best cancer prevention strategy for you. Discussing options with a genetic counselor, breast specialist or oncologist can help guide you.
• Concerns over health insurance discrimination. In the United States, the federal Genetic Information Nondiscrimination Act of 2008 protects individuals undergoing genetic testing. It prohibits insurers from denying insurance or raising premium or contribution rates on the basis of genetic information. The law also covers protection from employment discrimination.

Talk about these — or any other — concerns with your genetic counselor, doctor or other health care provider.

Negative test results

Learning that genetic testing found no alteration in the BRCA genes might produce feelings of:

• Relief that you don't have an increased cancer risk. If your test result is negative and there's a known mutation in your family, you may feel like a huge weight has been lifted off your shoulders. You won't have to undergo more frequent screening or consider surgery or other preventive measures. However, it would be a mistake to let this relief lull you into a false sense of security. You still face the same level of cancer risk as the general population, and that makes your odds about 1 in 8 for developing breast cancer during your lifetime.
• 'Survivor' guilt. Testing negative for a BRCA mutation may bring on feelings of guilt — especially if other family members do carry the mutation and face an increased cancer risk.
• Uncertainty about your cancer risk. Test results aren't always clear-cut. Receiving a negative test result might not allow your doctor to draw a definite conclusion about your risk status. Also, testing negative doesn't mean that you won't one day develop cancer, just as testing positive doesn't mean that you eventually will develop cancer.

Variant or unknown test results

In some instances, testing identifies a gene alteration that hasn't been seen in prior families, and there isn't enough information about the alteration to know whether it causes an increased risk of breast or ovarian 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 useful cancer risk information
• Difficulty making cancer screening, treatment and prevention decisions

Living with test results

Anyone would be anxious if they had the chance to find out whether their risk of a deadly disease is higher than average. In fact, you may decide that you'd rather not know, and just forgo testing altogether. That's certainly a valid choice.

It's also normal to experience sadness, anxiety or even anger if your test results are positive. You might be more likely to experience a more profoundly negative reaction if you didn't expect your results to be positive — for instance if your family history isn't that significant. 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. For many, simply knowing their risk status eases psychological and emotional distress. They can be proactive and establish a plan to deal with their increased risk.

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