This exploratory study investigates the experience of partners of women at high risk of developing breast/ovarian cancer and reports on the partners' views concerning their relationship, communication, future planning, children and childbearing, involvement in decision-making regarding screening and prophylactic measures, and information and support needs. In-depth interviews were conducted with 15 partners. Of these, seven were partners of women who were BRCA1/2 mutation carriers, five were partners of women with unknown mutation status, and three were partners of women who were non-carriers. None of the women had a previous diagnosis of breast or ovarian cancer. Partners of carriers and women with unknown mutation status were found to be more distressed than partners of non-carriers, with partners of mutation carriers reporting the most difficulties. Factors associated with better adjustment and coping for partners included dealing with this situation as a team with their wife, greater involvement in decision-making, satisfaction with their supportive roles and being optimistic. Decision-making difficulties in relation to prophylactic measures, concerns about their children possibly being at increased cancer risk, as well as the need to receive information directly from health professionals and the wish to meet other partners were also discussed.

There is debate as to whether community genetic screening for the mutation(s) causing hereditary hemochromatosis (HH) should be implemented, due to issues including disease penetrance, health economic outcomes, and concerns about community acceptance. Hemochromatosis is a common preventable iron overload disease, due in over 90% of cases to C282Y homozygosity in the HFE gene. We are, therefore, piloting C282Y screening to assess understanding of genetic information and screening acceptability in the workplace setting. In this program, HaemScreen, education was by oral or video presentation in a group setting. C282Y status was assessed by polymerase chain reaction (PCR) and melt-curve analysis on DNA obtained by cheek-brush sampling. Of eligible participants, 5.8% (1.5-15.8%) attended information and screening sessions, of whom 97.7% (5571 individuals) chose to be tested. Twenty-two C282Y (1 : 253) homozygotes were identified and offered clinical follow-up. There were 638 heterozygotes (1 : 8.7). The determinants for participation have been analyzed in terms of the principles outlined in the Health Belief Model. Widespread screening for HH is readily accepted in a workplace setting, and a one-to-many education program is effective. The level of participation varies greatly and the advertizing and session logistics should be adapted to the specific features of each workplace.

Current practice in genetic counseling may not allow a full deliberation of the consequences of decisions about genetic testing for cancer risk, despite increasing demand for these services. Thus, two decision aids for individuals considering genetic testing for hereditary breast/ovarian cancer and hereditary non-polyposis colorectal cancer (HNPCC) susceptibility were developed and pilot tested with 43 individuals who had previously considered genetic testing for these cancer syndromes. A description of the decision aid development process is provided, as well as results of the pilot testing, which assessed participants' perceptions of the decision aids. All participants reported that they would recommend the decision aid to others facing the same situation, and 93% reported that the decision aid would have been relevant during their decision-making. The perceived impact of the decision aids on participants' emotions and understanding of genetic testing were assessed. Limitations of the study and future directions are discussed.