作者
Tatiane Yanes, Bettina Meiser, Rajneesh Kaur, Mary-Anne Young, Philip B Mitchell, Maatje Scheepers-Joynt, Simone McInerny, Shelby Taylor, Kristine Barlow-Stewart, Yoland Antill, Lucinda Salmon, Courtney Smyth, Brigid Betz-Stablein, Paul A James
发表日期
2021/12/1
期刊
Genetics in Medicine
卷号
23
期号
12
页码范围
2316-2323
出版商
Elsevier
简介
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 …
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T Yanes, B Meiser, R Kaur, MA Young, PB Mitchell… - Genetics in Medicine, 2021