Development and Implementation of ElectronicDecision Aids for Genetic Testing in Inherited Cancer Syndromes

项目摘要 癌症治疗中基因检测的适应症和需求正在迅速增长。遗传性癌症 综合征比以前认识到的更常见，基因检测是护理标准， 做出这些诊断。基因检测结果对于指导患者的靶向治疗也至关重要 卵巢癌和胰腺癌等已确诊的肿瘤。遗传咨询师传统上 管理测试过程，但辅导员严重短缺，他们无法满足 测试的需求。如果没有遗传咨询师，有效的沟通测试选项，结果， 风险也会降低最具挑战性的决定之一是基因组的选择。多重 基因组现在是标准的，但是基因组可以包括少至5个或多至125个基因。面板可以 包括与单一肿瘤类型或多种肿瘤类型相关的基因，以及证据较弱的基因 致病性也可以包括在内。关于什么是理想的小组没有共识， 因此，小组的选择是高度个性化的。创新的策略，以支持面临这些问题的患者 需要作出时间敏感和复杂的测试前决定。 决策辅助工具非常适合通过提供教育、促进决策过程 知情选择，澄清个人偏好，促进共同决策。我们建议 开发一种电子决策辅助工具，以帮助个人选择多基因面板， 而不是遗传咨询师我们将测试一个假设，即没有基因的决策辅助 顾问可以促进围绕特定多基因组选择的质量决策。此外 积极的变化，知识，共同决策，决策冲突，我们预计， 决策援助将增加及时进行基因检测的机会。利用一个有效的- 实施混合学习设计，我们提出这些具体目标：（1）开发和试点电子 在卵巢癌和胰腺癌患者中选择多基因组的决策辅助。(2)评价 与传统的遗传咨询师会议相比， 在多个机构的随机临床试验中进行基因面板测试。(3)的有效性进行评估 在多个不同的人群中实施决策辅助。 这些决策辅助工具将为质量决策建立一个急需的新范式， 关于遗传性癌症综合征的多基因面板测试的交流。该格式将唯一 解决当前的障碍，包括选择哪个多基因面板的复杂决定， 遗传咨询师资源，以及执业肿瘤学家缺乏时间和专业知识。

PROJECT SUMMARY The indications and demand for genetic testing in cancer care are rapidly growing. Hereditary cancer syndromes are more common than previously appreciated, and genetic testing is standard of care to establish these diagnoses. Genetic test results are also critical to guiding targeted therapies in patients with established tumors such as ovarian and pancreatic cancer. Genetic counselors have traditionally managed the testing process, but there is a critical shortage of counselors and they are not able to meet the demand for testing. Without a genetic counselor, effective communication of testing options, outcomes, and risks could be compromised. One of the most challenging decisions is the choice of gene panel. Multi- gene panels are now the norm, but panels can include as few as 5 or as many as 125 genes. Panels can include genes associated with a single tumor type or multiple tumor types, and genes with weaker evidence for pathogenicity may also be included. There is no consensus on what constitutes an ideal panel, and the choice of panel is therefore highly individualized. Innovative strategies to support patients facing these time-sensitive and complex pre-test decisions are needed. Decision aids are well-suited to address this challenge by providing education, facilitating the process of informed choice, clarifying personal preferences, and promoting shared decision making. We propose to develop an electronic decision aid to assist individuals in choosing a multi-gene panel with their medical oncologist instead of a genetic counselor. We will test the hypothesis that a decision aid without a genetic counselor can facilitate quality decisions around the selection of a specific multi-gene panel. In addition to positive changes in knowledge, shared decision making, and decisional conflict, we anticipate that the decision aid will increase access to genetic testing in a timely manner. Utilizing an effectiveness- implementation hybrid study design, we propose these specific aims: (1) To develop and pilot electronic decision aids for selection of a multi-gene panel in ovarian and pancreatic cancer patients. (2) To evaluate the efficacy of the decision aid with an oncologist versus a traditional genetic counselor session for multi- gene panel testing in a randomized clinical trial at multiple institutions. (3) To evaluate the effectiveness of implementation of the decision aid in multiple, diverse populations. These decision aids will establish a much needed and new paradigm for quality decision making and communication around multi-gene panel testing for inherited cancer syndromes. This format will uniquely address the current barriers that include the complex decision of which multi-gene panel to select, limited genetic counselor resources, and lack of time and expertise on the part of practicing oncologists.