A Randomized Controlled Trial: Genetic Counseling Patient Preference Intervention via Electronic Health Record Portal vs. Conventional Genetic Counseling for Women at Elevated Risk for Breast Cancer

项目总结 乳腺癌风险较高的女性应完成遗传咨询，并可能需要更频繁的咨询 筛查或其他测试(例如乳房磁共振成像[MRI])。尽管指导方针强调 将遗传咨询作为基因检测过程的一部分的重要性，提供机会提供基因 针对乳腺癌风险较高的女性的咨询经常被遗漏。传统的遗传咨询， 由单独的基因前和基因后测试阶段组成，不是由患者驱动的，是劳动和时间密集型的 以满足日益增长的需求(劳动力负担)。 我们的总体目标是提高遗传咨询体验，坚持国家全面 癌症网络(NCCN)对乳腺癌风险较高的女性的建议。建议数 随机对照试验(RCT)是我们实现目标的下一步。久负盛名的跨学科团队 将在过去工作的基础上测试一种新的整合了遗传咨询患者偏好(GCPP)的干预 在电子健康记录(EHR)门户中，允许患者直接指示他们的偏好 接受基因检测报告信息和基因检测后咨询。RCT将在以下人员中进行 1000名乳腺癌风险较高的妇女同意参与这项研究。女性将会成为 随机分为：1)通过EHR患者门户的GCPP；或2)常规遗传咨询。 与传统遗传咨询相比，GCPP干预的有效性将被确定为： 遵守NCCN指南，每6-12个月进行一次临床检查和每年一次乳房X光检查 (如果推荐的话，还可以用乳房MRI进行对比)(目标1)；坚持NCCN推荐的其他癌症 筛查(目标2)；准确的乳腺癌遗传知识和对乳腺癌风险的认识 癌症特有的担忧、检测后/咨询后的痛苦以及对遗传咨询的满意度(目标3)。一个 探索性目标将评估患者对接受遗传后检测咨询的偏好(例如， 电话、基于视频的Skype)。 这项拟议的研究具有创新性，因为它将测试一种新的基于eHR的遗传咨询干预方法 一项随机对照试验。这项研究意义重大，因为它将决定GCPP的疗效 临床护理环境中的干预措施，以解决传统遗传咨询的许多局限性(例如 不是耐心驱动的)。这项拟议的研究与公共健康相关，因为它确定了一种 新的遗传咨询方法影响乳腺癌风险升高女性的医疗结果。这个 研究结果可能会改变向乳腺癌风险升高的女性提供遗传咨询的方式 解决遗传咨询工作人员日益增加的负担。

PROJECT SUMMARY Women at elevated risk for breast cancer should complete genetic counseling and may require more frequent screening or additional tests (e.g. breast magnetic resonance imaging [MRI]). Despite guidelines emphasizing the importance of genetic counseling as part of the genetic testing process, opportunities to provide genetic counseling for women at elevated breast cancer risk are often missed. Conventional genetic counseling, consisting of separate pre- and post-genetic test sessions, is not patient driven, and is labor and time intensive to meet increasing demand (workforce burden). Our overall goal is to improve the genetic counseling experience and adherence to the National Comprehensive Cancer Network (NCCN) recommendations for women at elevated breast cancer risk. The proposed randomized controlled trial (RCT) is our next step to reach our goal. A well-established interdisciplinary team will build on past work to test a novel genetic counseling patient preference (GCPP) intervention integrated within an electronic health record (EHR) portal that allows patients to indicate their preferences while directly receiving genetic test report information and post-genetic test counseling. The RCT will be conducted among 1,000 women at elevated risk for breast cancer who agree to participate in the study. Women will be randomized to: 1) GCPP via EHR patient portal; or 2) conventional genetic counseling. The efficacy of the GCPP intervention compared to conventional genetic counseling will be determined for: adherence to NCCN guidelines for having a clinical encounter every 6-12 months and an annual mammogram (and breast MRI with contrast if recommended) (Aim 1); adherence to additional NCCN recommended cancer screening (Aim 2); and accurate breast cancer genetic knowledge and perception of breast cancer risk, breast cancer-specific worry, post-test/counseling distress, and satisfaction with genetic counseling (Aim 3). An Exploratory Aim will assess patient preferences for receipt of post-genetic test counseling (e.g. in-person, phone, video-based Skype). The proposed study is innovative because it will test a novel EHR-based genetic counseling intervention in a randomized controlled trial. The study is significant because it will determine the efficacy of the GCPP intervention in a clinical care setting to address many of the limitations of conventional genetic counseling (e.g. not patient driven). The proposed research is relevant to public health by determining the degree to which a novel genetic counseling approach influences medical outcomes for women at elevated breast cancer risk. The study results may change how genetic counseling is delivered to women with elevated breast cancer risk and address the increasing burden on the genetic counseling workforce.