Invited Speaker Victorian Comprehensive Cancer Centre Inaugural Research Conference 2017

Pilot-testing of a decision aid for participants in whole genome screening and psychosocial impact of testing for polygenic breast cancer risk (#30)

Bettina Meiser 1
  1. Prince of Wales Clinical School, UNSW, UNSW, NSW, Australia

Rapid advances in genomic technology now allow for concurrent testing of multiple rare high-penetrance gene mutations and common lower-risk variants associated with cancer risk. These developments are revolutionizing cancer management in people at increased risk, by informing therapeutic decisions, and enabling accurate diagnosis of disease susceptibility and targeted implementation of risk management.  The integration of new genomic testing technologies will transform genetic counselling practice and present clinicians with many challenges, including the communication of complex testing results to patients.  In the first part of the talk, I will present pilot test results for a decision aid to assist genomic research participants notified of clinically actionable high-penetrance mutations.  Pilot testing with 19 participants indicates that the decision is acceptable to the target audience, and the decision aid is now being implemented in the results notification process for the Australian arm of the International Sarcoma Kindred Study.  In the second part of my talk, I will present preliminary data from a large prospective study on the psychosocial and behavioural impact of genetic testing for polygenic breast cancer risk. In this ongoing study, 400 women enrolled in an existing cohort of Victorian high-risk breast cancer families with either a low or a high polygenic risk score (PRS) and whose personal and/or family history of breast cancer remains unexplained after genetic testing for known cancer predisposition genes are being invited to participate in this study.  Participants complete baseline questionnaires assessing their knowledge of hereditary breast cancer, current breast cancer screening behaviours, psychological well-being and intention to receive personal polygenic risk score results. As of July 2017, 105 have been consented to the study and 102 have completed the baseline questionnaire; of these 91% reported interest in receiving their PRS results, with 32 having already attended an appointment at a familial cancer clinic.  While there is strong interest in receiving personal PRS results among women at high risk of breast cancer, the psychological and behavioural implications should be carefully considered.