Assessing a woman’s breast cancer risk by testing for polygenic risk can provide useful information for the majority of women who would otherwise receive uninformative results by traditional genetic testing (e.g BRCA1/2). Despite increasing support for the utility of polygenic risk in hereditary breast cancer, research findings have not yet been integrated into practice and there is no genetic counselling framework to guide the implementation of this test in clinical practice. Translational research is therefore critical to ensure results are effectively communicated, and that women do not experience undue adverse psychological outcomes.

In this mixed method study, 400 women with a personal and/or high risk family history of breast cancer will be recruited from six familial cancer centers (FCCs) in Victoria and Tasmania. Eligible women will be invited to attend a FCC and receive their personal polygenic risk result for breast cancer. Genetic health professionals participating in the study will receive training on the return of polygenic risk information and a training manual and visual aids will be developed to facilitate patient communication. Participants will complete up to three self-administered questionnaires over a 12-months period to assess the short-and long-term psychological and behavioral outcomes of receiving or not receiving their personal polygenic risk result. Up to 40 women who opt to receive their results will also be invited to participate in an in-depth semi structured interview

This is the world’s first study to assess the psychological and behavioral impact of offering polygenic risk information to women from families at high risk of breast cancer. Findings from this research will provide the basis for the development of a new service model to provide polygenic risk information in familial cancer clinics.