Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
The University of Queensland Diamantina Institute, Dermatology Research Centre, The University of Queensland, Brisbane, Queensland, Australia.
Clin Genet. 2020 Mar;97(3):492-501. doi: 10.1111/cge.13687. Epub 2019 Dec 25.
Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and determine factors associated with uptake of PRS among women at increased risk of breast cancer for whom genetic testing to date had been uninformative. Participants were recruited from the Variants in Practice study from which breast cancer PRS had been calculated. Four hundred women were notified by letter of the availability of their PRS and invited to complete a self-administered survey comprising several validated scales. Considering non-participants, uptake of PRS was between 61.8% and 42.1%. Multivariate logistic regression identified that women were more likely to receive their PRS if they reported greater benefits (odds ratio [OR] = 1.17, P = .011) and fewer barriers to receiving their PRS (OR = 0.80, P = .007), had completed higher level education (OR = 3.32, P = .004), and did not have daughters (0.29, P = .006). Uptake of breast cancer PRS varied according to several testing- and patient-related factors. Knowledge of these factors will facilitate the implementation of polygenic testing in clinical practice and support informed decision making by patients.
多基因风险评分(PRS)越来越多地被用于评估乳腺癌风险。本研究旨在评估和确定与乳腺癌风险增加的女性中接受 PRS 的因素,这些女性的基因检测迄今为止尚无信息。参与者是从 Variants in Practice 研究中招募的,该研究计算了乳腺癌 PRS。有 400 名女性通过信件得知了她们的 PRS 可用性,并被邀请完成一份自我管理的调查,其中包括几个经过验证的量表。考虑到非参与者,PRS 的接受率在 61.8%至 42.1%之间。多变量逻辑回归表明,如果女性报告了更多的益处(优势比 [OR] = 1.17,P =.011)和更少的接受 PRS 的障碍(OR = 0.80,P =.007),接受 PRS 的可能性更大,接受了更高水平的教育(OR = 3.32,P =.004),并且没有女儿(0.29,P =.006)。乳腺癌 PRS 的接受率因多种检测和患者相关因素而异。了解这些因素将有助于在临床实践中实施多基因检测,并支持患者做出知情决策。