How families communicate about HNPCC genetic testing: findings from a qualitative study

Little is known about how hereditary nonpolyposis colon cancer (HNPCC) genetic counseling and testing information is communicated within at-risk families. This article describes findings from a qualitative study of 39 adult members from five families with known HNPCC-predisposing mutations. We evaluated how information from HNPCC genetic counseling and testing was disseminated in these families and how family members reacted to and acted on this information. We included family members who had been diagnosed with an HNPCC syndrome cancer, unaffected individuals who were at 50% risk of carrying a mutation, and their spouses. Participants included those who had undergone testing and those who had not. In general, all families had shared the news about an HNPCC mutation with at-risk relatives. Communication about HNPCC genetic counseling and testing followed the norms used for conveying other nonurgent family news. Mutation noncarriers, nontesters, and those who were not biological relatives were less involved in discussing genetic counseling and testing and perceived these processes as less relevant to them. Although all family members were generally willing to share information about HNPCC, probands and mutation carriers informed extended family members and actively persuaded others to seek counseling or testing. Family members who were persuaded to seek those services by the proband were more likely to have counseling and testing and were more likely to seek those services sooner. Genetic counseling should attempt to identify the existing communication norms within families and ways that family members can take an active role in encouraging others to learn about their cancer risk and options for testing. Interventions may also need to emphasize the relevance of hereditary cancer information beyond the immediate family and to unaffected family members who may be central to the communication process (e.g., spouses of mutation carriers).