Gillian Gregory, Tatiane Yanes, Bettina Meiser, Kristine Barlow-Stewart, Mary-Anne Young, Paul James
The ‘common variant, common disease’ model predicts a significant component of hereditary breast cancer unexplained by high or moderate-penetrance gene mutations is due to the cumulative effect of common risk variants in DNA (polygenic risk). Assessing a woman’s breast cancer risk by testing for common risk variants can provide useful information for women who would otherwise receive uninformative results by traditional monogenic testing. Despite increasing support for the utility of common risk variants in hereditary breast cancer, research findings have not yet been integrated into clinical practice. Translational research is therefore critical to ensure results are effectively communicated, and that women do not experience undue adverse psychological outcomes.
For this study, women enrolled in the existing Variants in Practice Psychosocial Study (ViPPS) will be invited to attend a participating familial cancer clinic and receive their personal polygenic breast cancer risk result. All genetic counselling consultations associated with this research study at the Peter MacCallum Cancer Centre and Royal Melbourne Hospital will be digitally recorded. The consultations of a subset of 20-30 consultations will be transcribed and subjected to a rigorous communication behaviours analysis, including coding of practitioner behaviours (e.g. communication style and information giving behaviours) that occurred during consultations to determine whether they influenced patient outcomes.