Introduction: Genetic risk modifier testing (GRMT), an emerging form of genetic testing based on common single nucleotide polymorphisms and polygenic risk scores, has the potential to refine estimates of BRCA1/2 mutation carriers’ breast cancer risks. However, for women to benefit from GRMT, effective approaches for communicating this novel risk information are needed. Objective: To evaluate patient preferences regarding risk communication materials for GRMT. Methods: We developed four separate presentations (panel of genes, icon array, verbal risk estimate, graphical risk estimate) of hypothetical GRMT results, each using varying risk communication strategies to convey different information elements including number of risk modifier variants present, variant prevalence among BRCA1/2 carriers, and implications and uncertainties of test results for cancer risk. Thirty BRCA1/2 carriers evaluated these materials (randomized to low, moderate, or high breast cancer risk versions). Qualitative and quantitative data were obtained through in-person interviews. Results: Across risk versions, participants preferred the presentation of the graphical risk estimate, often in combination with the verbal risk estimate. Interest in GRMT was high; 76.7% of participants wanted their own GRMT. Participants valued the potential for GRMT to clarify their cancer susceptibility and provide actionable information. Many (65.5%) anticipated that GRMT would make risk management decisions easier. Conclusions: Women with BRCA1/2 mutations could be highly receptive to GRMT, and the minimal amount of necessary information to be included in result risk communication materials includes graphical and verbal estimates of future cancer risk. Findings will inform clinical translation of GRMT in a manner consistent with patients’ preferences.

中文翻译：

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说明癌症风险：关于新型BRCA1/2遗传风险调节剂测试的患者风险沟通偏好和兴趣

简介：遗传风险调节剂测试 (GRMT) 是一种基于常见单核苷酸多态性和多基因风险评分的新兴基因测试形式，有可能改进对 BRCA1/2 突变携带者乳腺癌风险的估计。然而，为了让女性从 GRMT 中受益，需要有效的方法来传达这种新的风险信息。目的：评估患者对 GRMT 风险交流材料的偏好。方法：我们开发了假设 GRMT 结果的四个单独展示（基因面板、图标阵列、口头风险估计、图形风险估计），每个展示都使用不同的风险沟通策略来传达不同的信息元素，包括存在的风险修饰符变体的数量、变体的流行率BRCA1/2 载波，以及测试结果对癌症风险的影响和不确定性。30 名 BRCA1/2 携带者评估了这些材料（随机分为低、中或高乳腺癌风险版本）。定性和定量数据是通过面对面访谈获得的。结果：在各种风险版本中，参与者更喜欢展示图形风险估计，通常与口头风险估计相结合。对 GRMT 的兴趣很高；76.7% 的参与者想要他们自己的 GRMT。参与者重视 GRMT 阐明其癌症易感性并提供可操作信息的潜力。许多人 (65.5%) 预计 GRMT 将使风险管理决策更容易。结论：具有 BRCA1/2 突变的女性可能高度接受 GRMT，结果风险沟通材料中包含的最少必要信息包括对未来癌症风险的图形和口头估计。研究结果将以符合患者偏好的方式告知 GRMT 的临床转化。