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Genetic testing for breast cancer: Psychological and social impact

Genetic testing to estimate breast and ovarian cancer risk may prompt many emotional and psychological reactions. How will getting the news that you've tested positive or negative affect you?

By Mayo Clinic staff

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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.
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References
  1. Cohn WF, et al. "Are you at risk for hereditary breast cancer?": Development of a personal risk assessment tool for hereditary breast and ovarian cancer. Journal of Genetic Counseling. 2008;17:64.
  2. Pruthi S, et al. Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clinic Proceedings. 2010;85:1111.
  3. Isaacs C, et al. Genetic testing for breast and ovarian cancer. http://www.uptodate.com/home/index.html. Accessed Dec. 1, 2010.
  4. Peshkin BN, et al. Patient information: Genetic testing for breast and ovarian cancer. http://www.uptodate.com/home/index.html. Accessed Dec. 1, 2010.
  5. H.R.493: Genetic information nondiscrimination act of 2008. The Library of Congress. http://thomas.loc.gov/cgi-bin/bdquery/z?d110:HR00493:@@@L&summ2=m&. Accessed Dec. 1, 2010.
  6. Probability of breast cancer in American women. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/Detection/probability-breast-cancer. Accessed Dec. 1, 2010.
  7. BRCA1 and BRCA2: Cancer risk and genetic testing. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed Dec. 1, 2010.
  8. Pasacreta JV. Psychosocial issues associated with genetic testing for breast and ovarian cancer risk: An integrative review. Cancer Investigation. 2003;21:588.
BR00014 Jan. 18, 2011

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