Polygenic risk scores (PRS) are personalized assessments of disease risk based on the cumulative effect of common low-risk genetic variants. PRS have been shown to accurately predict women's breast cancer risk and are likely to be incorporated into personalized breast cancer risk management programs. However, there are few studies investigating the individual impact of receiving a breast cancer PRS. Existing studies have not demonstrated significant changes in perceived risk or risk management behaviors after receipt of polygenic risk information. The aim of this qualitative study was to explore how women with a family history of breast cancer construct breast cancer risk perceptions after receipt of a breast cancer PRS. Unaffected women with a family history of breast cancer who had not previously received genetic counseling regarding their breast cancer risk were invited to participate in this study. In-depth, semi-structured interviews were conducted with 20 women who attended a familial cancer clinic in the Australian states of Victoria and Tasmania. Data were analyzed using an inductive thematic approach. Women's lived experience played a significant role in the construction and maintenance of their breast cancer risk perception. Women's pre-existing risk perceptions were informed by their family history and their knowledge that breast cancer is a multifactorial disease. Knowing that breast cancer is a multifactorial disease enabled most women to integrate genetic information with their pre-existing notions of risk. Women reported that the information they received was consistent with their existing notions of personal risk and screening advice. Therefore, the PRS did not lead to a change in perceived risk or risk management behaviors for most women. The results of this study provide insight into how polygenic risk information is integrated with pre-existing notions of risk, which will inform its implementation into clinical practice.

中文翻译：

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生活经历对接受乳腺癌多基因风险评分的女性风险感知的影响：“另一块馅饼”

多基因风险评分 (PRS) 是基于常见低风险遗传变异的累积效应对疾病风险的个性化评估。PRS 已被证明可以准确预测女性患乳腺癌的风险，并且很可能被纳入个性化的乳腺癌风险管理计划。然而，很少有研究调查接受乳腺癌 PRS 对个体的影响。现有研究并未证明在收到多基因风险信息后，感知风险或风险管理行为发生了显着变化。这项定性研究的目的是探索有乳腺癌家族史的女性在接受乳腺癌 PRS 后如何构建乳腺癌风险认知。有乳腺癌家族史且以前未接受过有关其乳腺癌风险的遗传咨询的未受影响的女性被邀请参加这项研究。对在澳大利亚维多利亚州和塔斯马尼亚州的一家家族癌症诊所就诊的 20 名女性进行了深入的半结构化访谈。使用归纳主题方法分析数据。女性的生活经历在她们的乳腺癌风险认知的构建和维持中发挥了重要作用。女性预先存在的风险认知来自她们的家族史和她们对乳腺癌是一种多因素疾病的了解。了解乳腺癌是一种多因素疾病，这使大多数女性能够将遗传信息与她们预先存在的风险观念相结合。女性报告说，她们收到的信息与她们现有的个人风险和筛查建议的概念是一致的。因此，PRS 并未导致大多数女性的感知风险或风险管理行为发生变化。这项研究的结果提供了关于多基因风险信息如何与预先存在的风险概念相结合的见解，这将为其在临床实践中的实施提供信息。