Development and Initial Testing of a Behavioral Intervention to Increase Pre-Test Genetic Counseling Among Families at Risk of Lynch Syndrome

行为干预的开发和初步测试，以增加有林奇综合症风险的家庭的测试前遗传咨询

• 批准号: 10581154
• 负责人: Haoyang Yan
• 金额: $ 10.87万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-02-01 至 2025-01-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10581154
• 关键词: Address; Adherence; Affect; Appointment; Area; Attitude; Awareness; Behavior; Behavior Therapy; Behavioral; Behavioral Medicine; Blood; Cancer Control; Centers for Disease Control and Prevention (U.S.); Cessation of life; Clinical; Colonoscopy; Colorectal Cancer; Conduct Clinical Trials; Consensus; Counseling; Data; Decision Making; Development; Development Plans; Diagnosis; Distress; Drops; Early Diagnosis; Endometrial Carcinoma; Ensure; Exercise; Family; Focus Groups; Fright; Future; General Population; Genetic Counseling; Genetic Risk; Genomics; Grant; Hereditary Malignant Neoplasm; Hereditary Nonpolyposis Colorectal Neoplasms; Individual; Inherited; Insurance; Intervention; Interview; Knowledge; Malignant Neoplasms; Medical; Mentors; Methodology; Methods; Mismatch Repair; Morbidity - disease rate; National Cancer Institute; Pamphlets; Participant; Pathogenicity; Patients; Persons; Population; Population Genetics; Positioning Attribute; Prevention; Protocols documentation; Public Health; Publishing; Qualitative Methods; Randomized; Randomized, Controlled Trials; Recording of previous events; Relative Risks; Research; Research Activity; Research Personnel; Resources; Risk; Scientific Advances and Accomplishments; Scientist; Social Sciences; Structure; Syndrome; Techniques; Testing; Training; Treatment Efficacy; United States; Universities; Variant; Woman; Writing; anticancer research; arm; barrier to testing; behavior change; behavior change wheel; cancer predisposition; cancer risk; career; career development; cost effective; design; efficacy testing; feasibility trial; gene repair; genetic counselor; genetic testing; improved; lifetime risk; medical schools; men; mortality; motivated behavior; pilot trial; prevent; proband; prototype; recruit; screening; supportive environment; testing uptake; theories; therapy design; therapy development; treatment arm; trial design; uptake; usability; usual care arm

PROJECT SUMMARY Lynch syndrome (LS) is an inherited cancer predisposition syndrome that substantially elevates lifetime risks for multiple cancers in both men and women. Identifying people with LS enables more frequent and earlier cancer surveillance and prevention, which can effectively reduce LS-related cancer morbidity and mortality. However, most people with LS in the United States are not diagnosed. One cost-effective way to identify individuals with LS is by conducting genetic testing on blood relatives of patients diagnosed with LS (or “cascade testing”), but the testing rate is low. Pre-test genetic counseling is a promising means to address many of the barriers to testing and to increase testing uptake. However, pre-test genetic counseling uptake is low in relatives at risk of LS, and the barriers and facilitators have not been systematically studied. Although informational resources for LS genetic counseling exist, they are unlikely to be sufficient for motivating behavior change. Aligned with the National Cancer Institute’s focus on cancer research to advance scientific knowledge and help all people live longer, healthier lives, the proposed research will address these critical gaps through three aims: 1) Identify barriers and facilitators to pre-test genetic counseling among relatives with no personal history of cancer but at risk of LS; 2) Develop a theory-based behavioral intervention to increase pre-test genetic counseling uptake in this population; and 3) Evaluate and optimize feasibility of the trial methods and the behavioral intervention to prepare for a fully powered randomized controlled trial and explore the intervention’s preliminary efficacy. I will apply the Behavior Change Wheel, a well-established behavior change framework, and use mixed methods (i.e., focus groups, usability testing, and a randomized controlled pilot trial) to develop a behavioral intervention to increase pre-test genetic counseling uptake. The proposed research will lead to an R01 proposal to test the efficacy of the intervention. My study team consists of outstanding mentors who have recognized expertise in the methodologies and topic areas of the proposed research, and a genetic counselor who will ensure that the research is clinically grounded. In coordination with my research activities, my career development plan includes structured training and one-on-one mentoring in behavioral medicine and intervention design and development, design and conduct of clinical trials, qualitative methods, and grant writing and management. Along with the abundant research and training resources and the supportive environment for transitioning early-career researchers to independence at Northwestern University Feinberg School of Medicine and Department of Medical Social Sciences, this K99/R00 will enable me to become an independent investigator working to facilitate decision making in patients and other stakeholders who face difficult cancer-related decisions, including those involving genetic risks.

项目摘要 林奇综合征（LS）是一种遗传性癌症易感综合征， 男性和女性都有多种癌症。识别LS患者可以更频繁和更早地患上癌症 监测和预防，可有效降低LS相关癌症的发病率和死亡率。然而，在这方面， 在美国，大多数LS患者没有被诊断出来。一种具有成本效益的方法来确定个人与 LS是通过对被诊断患有LS的患者的血液亲属进行基因检测（或“级联检测”），但 检测率低。检测前遗传咨询是解决检测障碍的一种有希望的手段 并增加考试的接受率。然而，在LS风险亲属中，检测前遗传咨询的接受率较低， 对障碍和促进因素没有进行系统的研究。虽然LS遗传学的信息资源 虽然存在咨询，但它们不太可能足以激励行为改变。与国家保持一致 癌症研究所专注于癌症研究，以推进科学知识，帮助所有人活得更长， 为了更健康的生活，拟议的研究将通过三个目标来解决这些关键差距：1）确定障碍， 在没有个人癌症史但有LS风险的亲属中进行预测试遗传咨询的促进者; 2） 发展以理论为基础的行为干预，以增加这一人群对检测前遗传咨询的接受; 和3）评估并优化试验方法和行为干预的可行性，为全面做好准备 随机对照试验，探讨干预的初步疗效。我将应用行为 改变车轮，一个完善的行为改变框架，并使用混合方法（即，焦点小组， 可用性测试和随机对照试点试验），以开发行为干预措施， 接受遗传咨询。拟议的研究将导致R 01提案，以测试 干预我的学习团队由杰出的导师组成，他们在 方法和拟议研究的主题领域，以及一名遗传顾问，他将确保 研究是基于临床的。为了配合我的研究活动，我的职业发展计划包括 在行为医学和干预设计和开发方面的结构化培训和一对一指导， 临床试验的设计和实施，定性方法，以及拨款的撰写和管理。沿着 丰富的研究和培训资源以及支持早期职业过渡的环境 研究人员在西北大学范伯格医学院和 医学社会科学，这K99/R 00将使我成为一个独立的调查员，工作，以促进 患者和其他利益相关者面临困难的癌症相关决策，包括 涉及遗传风险。