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 患有乳腺癌风险较高的妇女应完成遗传咨询，可能需要更频繁 筛选或其他测试（例如乳腺磁共振成像[MRI]）。尽管有指南强调 遗传咨询作为基因检测过程的一部分的重要性，提供遗传的机会 通常会错过针对乳腺癌升高风险的女性的咨询。常规的遗传咨询， 由单独的遗传前和遗传后测试课程组成，不是患者驱动的，并且是劳动和时间密集的 满足日益增长的需求（劳动力负担）。 我们的总体目标是改善遗传咨询经验和遵守国家综合 癌症网络（NCCN）针对乳腺癌风险升高的女性的建议。提议 随机对照试验（RCT）是我们实现目标的下一步。一支成熟的跨学科团队 将基于过去的工作以测试新型遗传咨询患者偏好（GCPP）干预措施 在电子健康记录（EHR）门户中，允许患者直接表示自己的偏好 接收基因测试报告信息和遗传后测试咨询。 RCT将在 1,000名同意参加该研究的乳腺癌风险较高的妇女。女人会 随机分配到：1）通过EHR患者门户网站GCPP；或2）常规遗传咨询。 与常规遗传咨询相比，GCPP干预的功效将确定为： 遵守NCCN指南每6-12个月进行一次临床遭遇和年度乳房X光检查 （如果建议进行对比度，则与乳房MRI进行对比）（AIM 1）；遵守其他NCCN建议的癌症 筛选（AIM 2）；以及准确的乳腺癌遗传知识和对乳腺癌风险的感知，乳房 特定于癌症的忧虑，测试后/咨询困扰以及对遗传咨询的满意度（AIM 3）。一个 探索目的将评估患者接受遗传测试咨询的偏好（例如，面对面， 电话，基于视频的Skype）。 拟议的研究具有创新性，因为它将测试基于EHR的新型遗传咨询干预措施 一项随机对照试验。该研究很重要，因为它将决定GCPP的功效 干预临床护理环境，以解决常规遗传咨询的许多局限性（例如 不是耐心的驱动）。拟议的研究与公共卫生相关，通过确定一个程度 新型的遗传咨询方法影响乳腺癌风险升高的女性的医疗结果。这 研究结果可能会改变遗传咨询的方式给患有乳腺癌风险升高的女性和 解决遗传咨询劳动力的负担不断增加。