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.
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The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
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We thank all the women who participated in the study as well as all the clinicians at the participating familial cancer clinics for accommodating this study. This study is supported by a grant from the Cancer Council of New South Wales (ID: 1079897). T.Y. was supported by a National Health and Medical Research Council (NHMRC) and National Breast Cancer Foundation postgraduate scholarship (ID: 1133049), and a Translational Cancer Research Institute PhD Top-up Scholarship. B.M. was supported by an NHMRC Senior Research Fellowship Level B (ID 1078523).
The study was approved by the Human Research Ethics Committee at participating sites (HREC/16/PMCC/2 and H0016395). Informed consent was obtained for each enrolled study participant.
B.M. has a remunerated consultant role with the company AstraZeneca with respect to an unrelated project. AstraZeneca has not been involved in the collection or analysis of data for articles nor in writing or submitting the manuscript. The other authors declare no competing interests.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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Yanes, T., Meiser, B., Kaur, R. et al. Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior. Genet Med 23, 2316–2323 (2021). https://doi.org/10.1038/s41436-021-01288-6