针对乳腺癌风险升高的女性进行遗传咨询和检测：Know Your Risk 干预措施的随机对照试验方案。

Genetic counseling and testing for females at elevated risk for breast cancer: Protocol for the randomized controlled trial of the Know Your Risk intervention.

机构信息

Division of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH, USA; Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.

Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA; Division of Health Behavior and Health Promotion, College of Public Health, The Ohio State University, Columbus, OH, USA.

出版信息

Contemp Clin Trials. 2023 Oct;133:107323. doi: 10.1016/j.cct.2023.107323. Epub 2023 Sep 1.

DOI:10.1016/j.cct.2023.107323

PMID:37661005

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10591709/

Abstract

BACKGROUND

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.

METHODS

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.

CONCLUSION

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.

TRIAL REGISTRATION

ClinicalTrials.govNCT05325151.

摘要

背景

遗传咨询和检测在乳腺癌高危患者的护理中具有重要作用。然而，传统的产前和产后遗传咨询既耗费人力和时间，又难以覆盖居住在主要城市中心以外的患者，而且在大规模应用上也不切实际。以患者为导向的遗传咨询和检测方法可能会增加可及性，改善患者体验，影响临床实践效率，并有助于满足劳动力需求。本项 2 臂随机对照试验的目的是确定 Know Your Risk（KYR）——一种遗传咨询患者偏好干预措施的疗效。

方法

将 1000 名处于乳腺癌高危（终生风险>20%）的女性随机分为 KYR 干预组或传统遗传咨询组。该研究将通过多基因面板检测和经过验证的多基因风险评分对乳腺癌风险进行全面评估。主要结局是通过病历审查评估每 6-12 个月进行一次临床随访和每年进行一次乳房 X 线（如果建议则进行乳房 MRI）的依从性，以符合国家综合癌症网络指南。次要结局包括通过病历审查评估其他推荐的癌症筛查测试的依从性，以及通过完成研究期间的三次调查评估乳腺癌知识、风险感知、检测后/咨询时的困扰以及对咨询的满意度的变化。将评估 KYR 干预与传统遗传咨询相比的非劣效性。