An exploration of the communication preferences regarding genetic testing in individuals from families with identified breast/ovarian cancer mutations

Abstract

The responsibility for informing at-risk relatives of the availability of genetic testing for breast/ovarian cancer gene (BRCA1 or BRCA2) mutations currently falls on the probands. This study explored the support needs of individuals from families with identified BRCA1 or BRCA2 mutations when communicating about genetic risk and genetic testing with at-risk family members. Thirty-nine semi-structured telephone interviews were conducted with individuals from families with identified BRCA mutations. Interview responses were cross-tabulated by sample characteristics using the qualitative research analysis software NVivo8. The development of educational materials, which individuals could use when communicating the risks of carrying a BRCA gene mutation with their relatives, was identified as a specific need. Many participants expressed a preference for a staged approach, where relatives are notified of their increased risk and the availability of genetic testing risk either face-to-face or via a letter, with additional educational sources, including brief written information or access to a website, made available for those wishing to access more in-depth information. This research identified a need for the development of educational/informational resources to support individuals with identified breast/ovarian cancer mutations to communicate with their at-risk relatives about genetic risk and genetic testing availability.