Hereditary breast cancer accounts for 5-10% of all breast cancer diagnoses and is primarily caused by changes (mutations) in two genes called BRCA1 and BRCA2. Female relatives found to carry a familial BRCA1/2 mutation are at high risk to develop breast and ovarian cancers. Male relatives are at increased risk to develop male breast cancer and prostate cancer. These individuals form a uniquely high risk population that would benefit significantly from cancer prevention and early detection initiatives. However, the number of family members of BRCA1/2 who undergo predictive BRCA1/2 genetic testing is lower than expected.
The UPTAKE study used a questionnaire-based survey to examine the uptake of predictive genetic testing within close relatives of BRCA1/2 carriers. The goal was to identify potential facilitators and barriers to the communication process that might impact an individual’s choice to consider undergo predictive genetic testing. Participants were also asked to identify services or resources that might help in the risk communication process within their family. This information will then be used to develop tools and/or counseling strategies that could be used to better inform and educate unaffected, high-risk women and men of the health benefits of BRCA1/2 genetic testing.
Summary of Results: 141 questionnaires were returned. Overall, 83% of family relatives were informed about the participant’s BRCA1/2 status. Of the living, informed family relatives, 62% did not have genetic testing; 10% of these family relatives reportedly had concerns about insurance/ employment discrimination. Women are more likely to access predictive genetic testing in our population. Cancer status, socioeconomic status, age and gender of the participant did not appear to be associated with different levels of genetic testing uptake among their family relatives. However a trend was observed between participant distress in communication and lower uptake of predictive genetic testing among family relatives. About 25% of participants report a desire for more help in discussing BRCA status with family, particularly with their children as this appeared to be associated with the most distress. All participants reported a high level of interest in all suggested interventions.
Conclusion: Communication of BRCA mutation status is high among family members. However the resulting uptake in predictive genetic testing was less than anticipated. Possible factors identified include gender, insurance concerns and distress in communication of genetic risk information. This patient population appears highly motivated to take advantage of clinic-based interventions to assist in family communication.
