基因咨询和测试在对乳腺癌风险较高的患者的护理中发挥着重要的作用。然而，传统的术前和术后基因咨询劳力和耗时，对于居住在主要城市以外的患者来说较不容易获得，并且在大规模上不切实际。以患者为中心的基因咨询和测试方法可能会增加患者的获得性，改善患者的体验，影响临床实践的效率，并帮助满足劳动力需求。该研究的目标是通过两个分组的随机对照试验来确定"了解您的风险"（Know Your Risk，KYR）基因咨询患者偏好干预的功效。将有乳腺癌风险较高（>20%终身）的女性（n = 1000）随机分配到KYR干预组或传统的基因咨询组。该研究将通过多基因面板测试和经过验证的多基因风险评分来全面评估乳腺癌风险。主要结局指标是根据医疗记录评估是否每6-12个月进行一次临床会诊，并每年进行一次乳腺摄影术（如有需要，进行乳腺MRI）。次要结局指标包括根据医疗记录评估是否遵循其他推荐的癌症筛查测试，并通过在研究期间填写三份问卷来评估乳腺癌知识的变化、风险感知、术后/咨询困扰程度和咨询满意度。将评估该研究目标中KYR干预与传统基因咨询的非劣效性。如果KYR干预具有功效，它有可能改善患者的体验，并可能改变基因咨询的交付方式，为最佳实践提供信息，并减轻劳动力负担。ClinicalTrials.gov编号NCT05325151。© 2023版权所有Elsevier Inc.发布。

Genetic counseling and testing have an important role in the care of patients at elevated risk for breast cancer. However, conventional pre- and post-test genetic counseling is labor and time intensive, less accessible for patients living outside major urban centers, and impractical on a large scale. A patient-driven approach to genetic counseling and testing may increase access, improve patients' experiences, affect efficiency of clinical practice, and help meet workforce demand. The objective of this 2-arm randomized controlled trial is to determine the efficacy of Know Your Risk (KYR), a genetic counseling patient preference intervention.Females (n = 1000) at elevated risk (>20% lifetime) for breast cancer will be randomized to the KYR intervention or conventional genetic counseling. The study will provide comprehensive assessment of breast cancer risk by multigene panel testing and validated polygenic risk score. Primary outcome is adherence to National Comprehensive Cancer Network guidelines for a clinical encounter every 6-12 months and an annual mammogram (breast MRI if recommended) determined by medical record review. Secondary outcomes include adherence to other recommended cancer screening tests determined by medical record review and changes in breast cancer knowledge, perception of risk, post-test/counseling distress, and satisfaction with counseling by completion of three surveys during the study. Study aims will be evaluated for non-inferiority of the KYR intervention compared to conventional genetic counseling.If efficacious, the KYR intervention has the potential to improve patients' experience and may change how genetic counseling is delivered, inform best practices, and reduce workforce burden.ClinicalTrials.govNCT05325151.Copyright © 2023. Published by Elsevier Inc.