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Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior


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.

Type Journal
ISBN 1530-0366 (Electronic) 1098-3600 (Linking)
Authors Yanes, T.; Meiser, B.; Kaur, R.; Young, M. A.; Mitchell, P. B.; Scheepers-Joynt, M.; McInerny, S.; Taylor, S.; Barlow-Stewart, K.; Antill, Y.; Salmon, L.; Smyth, C.; Betz-Stablein, B.; James, P. A.
Responsible Garvan Author Mary-Anne Young
Published Date 2021-12-31
Published Volume 23
Published Issue 12
Published Pages 2316
Status Published in-print
DOI 10.1038/s41436-021-01288-6
URL link to publisher's version