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

随机对照试验：通过电子健康记录门户进行遗传咨询患者偏好干预与针对乳腺癌风险高女性的传统遗传咨询

• 批准号: 10544801
• 负责人: MIRA L KATZ
• 金额: $ 56.39万
• 依托单位: OHIO STATE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-01-01 至 2025-12-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10544801
• 关键词: Address; Adherence; Agreement; Assessment tool; Breast Cancer Genetics; Breast Cancer Risk Factor; Breast Magnetic Resonance Imaging; Cancer-Predisposing Gene; Clinical; Counseling; Distress; Education; Electronic Health Record; Family; Future; Genes; Genetic Counseling; Goals; Guidelines; Healthcare Systems; Heredity; High-Risk Cancer; Individual; Intervention; Knowledge; Malignant Neoplasms; Mammographic screening; Mammography; Medical; Methods; Modeling; Mutation; National Comprehensive Cancer Network; Online Systems; Outcome; Participant; Patient Preferences; Patients; Perception; Persons; Prevention strategy; Process; Public Health; Randomized; Randomized, Controlled Trials; Recommendation; Recording of previous events; Reporting; Research; Risk; Risk Assessment; Screening for cancer; Self Direction; Telephone; Test Result; Testing; Time; Triage; United States; Woman; Work; cancer genetics; clinical care; clinical encounter; colorectal cancer screening; comparison intervention; efficacy evaluation; experience; genetic testing; group counseling; improved; innovation; malignant breast neoplasm; novel; patient health information; patient oriented; patient portal; polygenic risk score; preference; risk perception; satisfaction; screening; screening guidelines; service delivery; telephone coaching; web-based tool

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.

项目摘要 乳腺癌风险高的女性应完成遗传咨询，并可能需要更频繁地进行咨询 筛查或其他检查（如乳腺磁共振成像[MRI]）。尽管指南强调 遗传咨询作为基因检测过程的一部分的重要性，提供遗传咨询的机会， 对乳腺癌风险较高的妇女的咨询往往被忽视。传统的遗传咨询， 由单独的基因检测前和基因检测后阶段组成，不是患者驱动的，并且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的经验和坚持国家综合 癌症网络（NCCN）对乳腺癌风险升高的女性的建议。拟议 随机对照试验（RCT）是我们实现目标的下一步。一个完善的跨学科团队 将建立在过去的工作，以测试一种新的遗传咨询患者偏好（GCPP）干预集成 在电子健康记录（EHR）门户中，允许患者在直接 接受基因检测报告信息和基因检测后咨询。RCT将在以下人群中进行 1,000名乳腺癌高危女性同意参加这项研究。妇女将被 随机分配至：1）通过EHR患者门户的GCPP;或2）常规遗传咨询。 将确定GCPP干预与传统遗传咨询相比的疗效： 遵守NCCN指南，每6-12个月进行一次临床就诊，每年进行一次乳房X线检查 (and如果推荐，使用造影剂进行乳腺MRI）（目标1）;遵守NCCN推荐的其他癌症 筛查（目标2）;以及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，测试/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接受基因检测后咨询的偏好（例如，亲自， 电话、基于视频的Skype）。 这项拟议的研究是创新的，因为它将测试一种新的基于EHR的遗传咨询干预， 一项随机对照试验这项研究意义重大，因为它将确定GCPP的疗效 在临床护理环境中进行干预，以解决传统遗传咨询的许多局限性（例如， 不是患者驱动的）。拟议的研究与公共卫生有关， 新的遗传咨询方法影响乳腺癌风险升高的妇女的医疗结果。的 研究结果可能会改变遗传咨询如何提供给乳腺癌风险升高的妇女， 解决遗传咨询工作人员日益增加的负担。