Psychological Issues in Genetic Testing for Breast Cancer

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Lerman, C. and Croyle
Last Modified: November 1, 2001

Reprinted with Permission From: Archives of Internal Medicine, 154:609-616. Funded by AHCPR Grant HS06660 From No. 176, July 1994 Research Activities of the Agency for Health Care Policy and Research, p. 28


Although hereditary breast cancer (HBC) accounts for only about 5-10% of all breast cancers, up to 25% of early-onset cases are attributable to HBC. One of the greatest potential benefits of genetic tests for breast cancer susceptibility is the identification of young women who may benefit from mammogram surveillance initiated at an earlier age and/or on a more frequent basis than usual.

Previous studies suggest that notifying persons about their risks for cancer can have serious negative psychological consequences that may impair adherence to prevention recommendations, either because of denial or fear of discovering cancer. This poses unique challenges for genetic counselors who must inform patients of their breast cancer risk based on genetic testing results, according to the authors. They recommend that genetic counselors provide patients with pretest counseling, ensure the patient's informed consent before testing, be aware of and minimize adverse psychological consequences, provide or arrange for followup care, and promote breast cancer prevention and surveillance techniques. The authors also caution that genetic information has implications, not only for the individuals who undergo testing but also for their partners, children, siblings, and parents and followup support should be extended to family members as well.