Multivariate risk models are commonly used in clinical practice to estimate a woman's lifetime risk for breast cancer and assist in implementation of appropriate screening and risk reduction strategies. More recently, breast cancer polygenic risk scores (PRS) have been derived and integrated into these models to further improve risk estimation. While breast cancer PRS have been offered by two clinical diagnostic laboratories since 2017, little is known about the extent to which genetic counselors are ordering breast cancer PRS or incorporating the results into patient management. This study surveyed U.S. cancer genetic counselors from October 2019 to January 2020 to identify and understand their current practices with breast cancer PRS, to determine the impact of breast cancer PRS on patient management, and to anticipate future genetic counselor practices with breast cancer PRS. Fewer than half of respondents (43%, 51/120) had ordered breast cancer PRS and approximately one‐third (35%, 16/46) reported that the PRS had changed their medical management recommendations. The majority of cancer genetic counselors had not ordered PRS, most commonly due to (a) lack of clinical guidelines (90%, 60/67), (b) insufficient evidence of clinical utility (88%, 59/67), and (c) lack of availability for patients of non‐European ancestry (70%, 47/67). Of genetic counselors who had not ordered breast cancer PRS, only 10% (7/68) did not believe they would order PRS in the future. This is the first study to characterize genetic counselors’ experiences with breast cancer PRS. Results from this study indicate that although breast cancer PRS have been clinically available for patients for several years, most cancer genetic counselors are not yet convinced they are ready to be incorporated into patient care.

中文翻译：

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临床癌症遗传咨询环境中的乳腺癌多基因风险评分：当前实践和对患者管理的影响

临床实践中通常使用多变量风险模型来估计女性一生患乳腺癌的风险，并协助实施适当的筛查和风险降低策略。最近，乳腺癌多基因风险评分 (PRS) 已被推导出并整合到这些模型中，以进一步改进风险评估。虽然自 2017 年以来，两个临床诊断实验室已提供乳腺癌 PRS，但对于遗传咨询师订购乳腺癌 PRS 或将结果纳入患者管理的程度知之甚少。本研究从 2019 年 10 月至 2020 年 1 月对美国癌症遗传顾问进行了调查，以识别和了解他们目前对乳腺癌 PRS 的做法，以确定乳腺癌 PRS 对患者管理的影响，并预测未来遗传咨询师对乳腺癌 PRS 的做法。不到一半的受访者 (43%, 51/120) 订购了乳腺癌 PRS，大约三分之一 (35%, 16/46) 报告称 PRS 改变了他们的医疗管理建议。大多数癌症遗传咨询师没有订购 PRS，最常见的原因是 (a) 缺乏临床指南 (90%, 60/67)，(b) 临床效用的证据不足 (88%, 59/67)，以及 ( c) 非欧洲血统的患者缺乏可用性 (70%, 47/67)。在未订购乳腺癌 PRS 的遗传咨询师中，只有 10% (7/68) 不相信他们将来会订购 PRS。这是第一项描述遗传咨询师对乳腺癌 PRS 经验的研究。