The objectives of this study were to: (1) describe diffusion of information by affected women in whom a mutation has been identified (index cases) to their families and testing participation among high-risk relatives; (2) assess information recall and understanding by index cases and their satisfaction with the testing process; and (3) determine the factors associated with higher/lower testing decision in the family. Thirty index cases completed a self-administered questionnaire assessing their personal and family characteristics and their satisfaction with their own genetic testing process and a telephone interview to evaluate their knowledge about the risk of a genetic predisposition to breast and ovarian cancer, the type and number of close relatives that they informed, and the difficulties that they encountered. Information about breast/ovarian cancer risk and test availability was generally well transmitted (75%), predominantly (88%) to first-degree relatives. In contrast, testing participation was low (15%) and essentially occurred among sisters and daughters. There was a general lack of knowledge despite a high level of satisfaction regarding the information given by the geneticist. Family support and the knowledge of index cases about the risk of transmission of BRCA1/2 mutations by women were found to be positively and significantly associated with the testing decision among first-degree relatives. Difficulties in informing relatives appeared to be related to poor understanding of the information by index cases, as well as fear, and avoidance among close relatives. A major challenge for genetic counseling is to ensure that consulting patients not only receive complete understanding but also understand this information and anticipate the impact of the test result before deciding to take the test.

Informed probands are key actors for disclosing genetic information to their relatives when a mutation has been identified in the family. The objectives were to study women's attitudes towards the family disclosure of positive breast cancer genetic testing results and to determine the predictive factors of the diffusion patterns observed. A national multi-center cross-sectional survey was carried out at five French cancer genetic clinics during a 1-year period. Self-administered questionnaires were completed after the consultation by 84.5% (398/471) of women attending breast cancer genetic clinics for the first time. Among the 383 respondents who had at least one living first-degree relative to inform, 8.6% would inform none, 33.2% would inform at least one of them, and 58.2% would inform all of them. The sibship would be the most frequently informed blood relatives, sisters in 86.9% and brothers in 79% compared with mother in 71.4%, children in 70.4%, and father in 64.9%. Women of the family would be more frequently informed than men (P < 0.05). After multivariate adjustment, age, the fact to be affected by cancer, the number of daughters, and the emotional disturbance due to cancer in a close relationship were the main determinants (P < 0.05) of the diffusion patterns observed. The first step of the relatives' attendance to genetic counseling and the proband's willingness to disclose breast cancer genetic tests results was high in this study and was clearly dependent on the women's personal and emotional characteristics.

Material and methods POPULATION SAMPLEThe six participating regional cancer centres were selected with a view to giving a representative picture of the French population as a whole (south: Marseille, Toulouse; north: Lille; west: Nantes; centre: Paris/St Cloud, Clermont-Ferrand) and covered a total population of more than 4 million inhabitants. The main criterion used for inclusion in the study was the presence of breast cancer running in the family, either in the patient or in at least one first degree relative when she was not affected herself. All the healthy cases included had at least one first degree relative with breast cancer. All the affected ones had a first degree relative with cancer and when the consultand herself was not affected she had at least one first degree relative who was. The consultands were female adult cancer patients and healthy patients who were asked to participate when attending the cancer genetic clinics for the first time between January 1994 and January 1995. CONSULTANDS' QUESTIONNAIRESThe consultands were mailed a standardised questionnaire (with a stamped envelope) during the week after the consultation. If no answer was received within two weeks of the first letter, a reminder was sent, followed after a second period of two weeks by a complete package (letter, questionnaire, and stamped envelope). The questions asked about the attitudes towards breast cancer predictive testing are given in the appendix.Both open ended and closed questions were used to enquire about the transmission of information to relatives about the family cancer risk, how this information was received,

With the most severe forms of inherited cancer, no differences were observed between the acceptability to practitioners of PND and PGD, but with late-onset syndromes, there is still much uncertainty. Guidelines would help to standardize the practices of professionals handling these reproductive issues.