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Title: Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior.
Austin Authors: Yanes, Tatiane;Meiser, Bettina;Kaur, Rajneesh;Young, Mary-Anne;Mitchell, Philip B;Scheepers-Joynt, Maatje;McInerny, Simone;Taylor, Shelby;Barlow-Stewart, Kristine;Antill, Yoland;Salmon, Lucinda ;Smyth, Courtney;Betz-Stablein, Brigid;James, Paul A
Affiliation: Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia
Familial Cancer Clinic, Monash Medical Centre, Melbourne, VIC, Australia
QIMR Berghofer Medical Research Institute, Cancer and Population studies, Brisbane, QLD, Australia
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia
The University of Queensland Diamantina Institute, Dermatology Research Centre, University of Queensland, Brisbane, QLD, Australia
School of Psychiatry, University of New South Wales, Sydney, NSW, Australia
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia
Black Dog Institute, Prince of Wales Hospital, Sydney, NSW, Australia
Familial Cancer Clinic, Cabrini Health, Melbourne, VIC, Australia
Clinical Genetics
Issue Date: 2021
Date: 2021
Publication information: Genetics in medicine : official journal of the American College of Medical Genetics 2021; 23(12): 2316-2323
Abstract: 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). 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. 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. 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.
DOI: 10.1038/s41436-021-01288-6
ORCID: 0000-0002-3905-3025
Journal: Genetics in Medicine : Official Journal of the American College of Medical Genetics
PubMed URL: 34341522
Type: Journal Article
Subjects: Breast cancer
Appears in Collections:Journal articles

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