Psychological issues in genetic testing for breast cancer susceptibility

IT IS ESTIMATED that approximately 180 000 American women developed breast cancer in 1993, and 46 000 of these women died of this disease.¹Recent work in molecular genetics has led to the identification of genes that confer susceptibility to breast cancer, including a major breast—ovarian cancer susceptibility gene on chromosome 17.²⁻⁵As many as one in 300 women may carry germline mutations on one or more breast cancer susceptibility genes.⁶ These advances bring promise of clinical genetic testing for breast cancer susceptibility. In a few settings, this information already is being applied to identify gene carriers and noncarriers within families with hereditary breast cancer.⁷,⁸As yet, however, there are no guidelines for communicating genetic information about breast cancer susceptibility or for providing recommendations and follow-up care for identified gene carriers. This is a serious concern, as previous research suggests that cancer risk notification can have