Tatiane Yanes1,2, Bettina Meiser3, Rajneesh Kaur3, Mary-Anne Young4,5, Philip B Mitchell6,7, Maatje Scheepers-Joynt4, Simone McInerny4, Shelby Taylor4, Kristine Barlow-Stewart8, Yoland Antill9, Lucinda Salmon10, Courtney Smyth11, Brigid Betz-Stablein12,13, Paul A James4,14. 1. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia. t.yanes@uq.edu.au. 2. The University of Queensland Diamantina Institute, Dermatology Research Centre, University of Queensland, Brisbane, QLD, Australia. t.yanes@uq.edu.au. 3. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia. 4. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC, Australia. 5. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia. 6. School of Psychiatry, University of New South Wales, Sydney, NSW, Australia. 7. Black Dog Institute, Prince of Wales Hospital, Sydney, NSW, Australia. 8. Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia. 9. Familial Cancer Clinic, Cabrini Health, Melbourne, VIC, Australia. 10. Clinical Genetics Service, Austin Hospital, Melbourne, VIC, Australia. 11. Familial Cancer Clinic, Monash Medical Centre, Melbourne, VIC, Australia. 12. The University of Queensland Diamantina Institute, Dermatology Research Centre, University of Queensland, Brisbane, QLD, Australia. 13. QIMR Berghofer Medical Research Institute, Cancer and Population studies, Brisbane, QLD, Australia. 14. Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
Abstract
PURPOSE: To prospectively assess patient reported outcomes and risk management behavior of women choosing to receive (receivers) or decline (decliners) their breast cancer polygenic risk score (PRS). METHODS: Women either unaffected or affected by breast cancer and from families with no identified pathogenic variant in a breast cancer risk gene were invited to receive their PRS. All participants completed a questionnaire at study enrollment. Receivers completed questionnaires at two weeks and 12 months after receiving their PRS, and decliners a second questionnaire at 12 months post study enrollment. RESULTS: Of the 208 participants, 165 (79%) received their PRS. Among receivers, there were no changes in anxiety or distress following testing. However, compared to women with a low PRS, those with a high PRS reported greater genetic testing-specific distress, perceived risk, decisional regret, and less genetic testing-positive response. At 12 months, breast screening and uptake of risk-reducing strategies were consistent with current Australian guidelines of breast cancer risk management. Reasons for declining PRS included being unable to attend the appointment in person and concerns over potential emotional response. CONCLUSION: The outcomes of the study provide insight into women's responses to receiving PRS and highlight the issues that need to be addressed in the associated model of genetic counseling.
PURPOSE: To prospectively assess patient reported outcomes and risk management behavior of women choosing to receive (receivers) or decline (decliners) their breast cancer polygenic risk score (PRS). METHODS: Women either unaffected or affected by breast cancer and from families with no identified pathogenic variant in a breast cancer risk gene were invited to receive their PRS. All participants completed a questionnaire at study enrollment. Receivers completed questionnaires at two weeks and 12 months after receiving their PRS, and decliners a second questionnaire at 12 months post study enrollment. RESULTS: Of the 208 participants, 165 (79%) received their PRS. Among receivers, there were no changes in anxiety or distress following testing. However, compared to women with a low PRS, those with a high PRS reported greater genetic testing-specific distress, perceived risk, decisional regret, and less genetic testing-positive response. At 12 months, breast screening and uptake of risk-reducing strategies were consistent with current Australian guidelines of breast cancer risk management. Reasons for declining PRS included being unable to attend the appointment in person and concerns over potential emotional response. CONCLUSION: The outcomes of the study provide insight into women's responses to receiving PRS and highlight the issues that need to be addressed in the associated model of genetic counseling.
Authors: Anne Brédart; Antoine De Pauw; Anja Tüchler; Inge M M Lakeman; Amélie Anota; Kerstin Rhiem; Rita Schmutzler; Christi J van Asperen; Peter Devilee; Dominique Stoppa-Lyonnet; Jean-Luc Kop; Sylvie Dolbeault Journal: Clin Genet Date: 2022-05-16 Impact factor: 4.296