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

项目总结 林奇综合征(LS)是一种遗传性癌症易感综合征，极大地增加了 男性和女性都患有多种癌症。发现LS患者可以使癌症更频繁和更早 监测和预防，可以有效降低LS相关癌症的发病率和死亡率。然而， 在美国，大多数LS患者都没有被诊断出来。识别个人身份的一种经济高效的方法 LS是通过对被诊断为LS的患者的血亲进行基因测试(或“级联测试”)来实现的，但 检测率低。检测前遗传咨询是解决检测障碍的一种很有前途的方法。 并增加测试的接受度。然而，检测前遗传咨询在LS风险亲属中的接受率较低，并且 障碍和促进者还没有得到系统的研究。虽然LS Genetic的信息资源 咨询是存在的，但它们不太可能足以激励行为改变。与国家联盟保持一致 癌症研究所专注于癌症研究，以促进科学知识，帮助所有人活得更长， 为了让生活更健康，拟议的研究将通过三个目标解决这些关键差距：1)找出障碍和 在没有癌症个人病史但有LS风险的亲属中进行预先测试遗传咨询的促进者；2) 开发一种以理论为基础的行为干预，以增加测试前遗传咨询在这一人群中的接受程度； 3)评估和优化试验方法和行为干预的可行性，为充分的 动力随机对照试验，探讨干预的初步疗效。我将应用该行为 改变轮，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验)，以开发行为干预以增加预测试 遗传咨询的领悟。拟议的研究将导致R01提案，以测试 干预。我的研究团队由杰出的导师组成，他们在 拟议研究的方法和主题领域，以及一名遗传顾问，他将确保 这项研究是有临床依据的。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， 设计和实施临床试验、定性方法，以及拨款的撰写和管理。以及 丰富的研究和培训资源，为职业生涯早期过渡提供支持环境 西北大学范伯格医学院和医学院的研究人员走向独立 医学社会科学，这个K99/R00将使我成为一名独立的调查员，工作中 患者和其他面临与癌症相关的困难决定的利益相关者的决策，包括 涉及遗传风险。

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.