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

遗传性癌症综合征基因检测电子决策辅助设备的开发和实施

• 批准号: 10263229
• 负责人: DANIEL C CHUNG
• 金额: $ 76.16万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-14 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10263229
• 关键词: Address; Cancer Patient; Clinic; Clinical; Communication; Community Clinical Oncology Program; Complex; Conflict (Psychology); Consensus; Decision Aid; Decision Making; Dependence; Development; Diagnosis; Education; Genes; Genetic Counseling; Goals; Hereditary Neoplastic Syndromes; Human Resources; Improve Access; Individual; Inherited; Institution; Intention; Knowledge; Level of Evidence; Malignant Neoplasms; Malignant neoplasm of ovary; Malignant neoplasm of pancreas; Measures; Medical Oncologist; Oncologist; Outcome; Pathogenicity; Patients; Performance; Population Heterogeneity; Procedures; Process; Productivity; Professional counselor; Provider; Randomized Clinical Trials; Research Design; Resources; Risk; Syndrome; Test Result; Testing; Time; Update; Variant; acceptability and feasibility; cancer care; effectiveness evaluation; effectiveness implementation study; efficacy evaluation; gene panel; genetic counselor; genetic panel test; genetic testing; implementation outcomes; innovation; pancreatic cancer patients; patient population; preference; randomized trial; satisfaction; shared decision making; standard of care; targeted treatment; tool; tumor; uptake

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.

项目概要 癌症护理中基因检测的适应症和需求正在迅速增长。遗传性癌症 综合症比以前想象的更常见，基因检测是治疗的标准 建立这些诊断。基因检测结果对于指导患者的靶向治疗也至关重要 患有卵巢癌和胰腺癌等已确定的肿瘤。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，就无法有效沟通测试选项、结果、 并且风险可能会受到影响。最具挑战性的决定之一是基因组的选择。多- 基因 panel 现在已成为常态，但 panel 可以包含少至 5 个、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 还可以包括致病性。对于理想面板的构成尚未达成共识，并且 因此，面板的选择是高度个性化的。支持面临这些问题的患者的创新策略 需要做出时间敏感且复杂的预测试决策。 决策辅助工具非常适合通过提供教育、促进决策过程来应对这一挑战。 知情选择，澄清个人偏好，促进共同决策。我们建议 开发电子决策辅助工具，帮助个人根据自己的医疗情况选择多基因组 肿瘤学家而不是遗传咨询师。我们将检验这样一个假设：没有遗传因素的决策辅助 顾问可以促进围绕选择特定多基因组的质量决策。此外 为了知识、共同决策和决策冲突方面的积极变化，我们预计 决策援助将增加及时获得基因检测的机会。利用有效性—— 实施混合研究设计，我们提出以下具体目标：（1）开发和试点电子化 为卵巢癌和胰腺癌患者选择多基因组提供决策辅助。 (2) 评价 肿瘤学家的决策援助与传统的遗传咨询师会议对于多种疾病的疗效 在多个机构进行的随机临床试验中进行基因组测试。 (3) 评估有效性 在多个不同人群中实施决策援助。 这些决策辅助工具将为质量决策和决策建立急需的新范式。 围绕遗传性癌症综合征的多基因面板测试进行交流。这种格式将独一无二 解决当前的障碍，包括选择哪个多基因组的复杂决定、有限的 遗传咨询资源，以及执业肿瘤学家缺乏时间和专业知识。