A bout 5-10% of breast and ovarian cancers are the result of an autosomal dominant inherited predisposition, with a significant portion resulting from a germline mutation in the highly penetrant BRCA1 or BRCA2 genes. 1 The risk for breast cancer in women who carry a BRCA mutation is estimated to be 33-50% by the age of 50 and 56-85% by the age of 70, [1][2][3][4] and the risk of a second breast cancer may be as high as 60% over a woman's lifetime. The risk of ovarian cancer ranges from about 10-50%. Women are increasingly presenting for genetic cancer risk assessment (GCRA) services, wherein genetic testing and empirical data may be used to predict breast and ovarian cancer risk. Risk management options ranging from close surveillance to chemoprevention to prophylactic surgery are discussed as part of the GCRA consultation. While there is clearly a potential to benefit carefully selected and counselled subjects and family members who choose to undergo predisposition genetic testing, 5 6 numerous barriers exist to the appropriate application of this emerging technology. 7 8 Attention to the psychological implications of hereditary cancer including passing on a disease associated gene to one's children (transmission guilt) or alterations in family relationships are inherent in the counselling process. It is essential to understand the needs, beliefs, and values of women who seek GCRA services. 9 The purpose of this pilot study was to ascertain the motivations and concerns of women presenting to a comprehensive cancer centre for GCRA in order to understand their needs better. The study findings provided valuable insights into women's concerns and served as the basis for an ongoing comprehensive evaluation of needs in a larger cohort.
METHODS EligibilityThe study was approved by both the City of Hope's (COH) clinical protocol review and monitoring committee and institutional review board. Eligibility included all adult women with a personal or family history of breast or ovarian cancer, able to give informed consent, scheduled for an initial GCRA appointment at the City of Hope (COH) National Medical Center, Cancer Screening & Prevention Program (CSPP). Women who had previously undergone cancer risk counselling were ineligible. Study participation consisted of answering a one time pre-GCRA questionnaire.Recruitment/sampling A detailed health and family history questionnaire is sent to anyone who has an appointment in the CSPP clinic before their initial clinic visit. Consecutive women eligible for this study were also sent an invitation letter describing the study, study questionnaire, consent, and a self-addressed stamped envelope to return the study materials to the investigator. Women who returned the completed questionnaire and consent form before the initial GCRA appointment were enrolled and assigned a unique study ID number. Recruitment began in June 1998 and continued until the sample size (n=50) was met in July 1999. One hundred and twenty study packets were mailed to obtain the 50 participants. Forty-six p...