BACKGROUND: Communicating positive test results to at-risk family members can be difficult for individuals with BRCA mutations. Previous studies have identified barriers to disclosure but have not addressed the utility of supportive materials in the disclosure process.
PURPOSE: The purpose of this study was to identify tools and strategies useful to patients with BRCA mutations in disclosing result information to family members.
METHODS: A questionnaire was mailed to 482 patients with BRCA mutations assessing their experience with disclosing test result information to their families.
RESULTS: Of the 177 completed questionnaires received, 90 participants reported that they told every at-risk biological relative about their BRCA positive test results. These 90 questionnaires were analyzed to assess the utility of specific tools and strategies provided by genetic counselors to assist patients with results disclosure. Participants felt that printed materials, such as a sample letter explaining that a BRCA mutation had been identified in the family was the tool expected to be most helpful in disclosing result information. The strategy expected to be most helpful in disclosing BRCA positive test result information was a step by step plan for informing family members. Eighty-seven participants, those who reported they did not tell one or more family members their results, reported reasons for non-disclosure including those that may be considered to be valid reasons, such as at-risk relatives who were under the age of 18 at the time the results were in active discussion, some family members did not wish to be informed of results, and relatives who previously received results by someone other than the participant.
CONCLUSIONS: Results from this study suggest that patients perceive a benefit from receiving a sample letter to distribute, as well as a clear plan to effectively communicate positive results to family members. It is recommended that both be provided by genetic counselors to all patients with BRCA mutations to increase the likelihood that results will be shared with family members. However, this study found evidence that there are valid reasons some patients may choose not to disclose results to every at-risk relative. This finding requires additional investigation to be completely understood.