Development and Implementation of Electronic Decision 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工具的开发和实施

• 批准号: 10087167
• 负责人: DANIEL C CHUNG
• 金额: $ 77.81万
• 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/10087167
• 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; cancer care; effectiveness evaluation; effectiveness implementation study; gene panel; genetic counselor; genetic panel test; genetic testing; 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.

项目总结 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 综合症比以前认识到的更常见，基因检测是治疗的标准 建立这些诊断。基因检测结果对指导患者的靶向治疗也至关重要。 已确诊的肿瘤，如卵巢癌和胰腺癌。遗传咨询师传统上 管理测试流程，但严重缺乏顾问，他们无法满足 对测试的需求。在没有遗传咨询师的情况下，有效地沟通检测选项、结果 而且风险可能会受到影响。最具挑战性的决定之一是基因面板的选择。多个- 基因面板现在是常态，但面板可以包含最少5个或最多125个基因。电池板可以 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 致病性也可能包括在内。对于什么是理想的小组，没有达成共识，而且 因此，面板的选择是高度个性化的。支持面临这些挑战的患者的创新策略 需要对时间敏感且复杂的测试前决策。 决策辅助工具非常适合通过提供教育、促进 知情选择，明确个人偏好，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小组与他们的医疗 肿瘤学家而不是遗传咨询师。我们将检验这样一种假设，即决策在没有遗传基因的情况下是有帮助的 咨询师可以促进围绕特定多基因小组的选择做出质量决定。此外 对于知识、共享决策和决策冲突的积极变化，我们预计 决策援助将增加及时进行基因检测的机会。利用一种有效性- 实施混合学习设计，我们提出了以下具体目标：(1)开发和试点电子 卵巢癌和胰腺癌患者多基因小组选择的决策辅助。(2)评估 与传统的遗传咨询师相比，与肿瘤学家一起进行决策辅助治疗的效果如何？ 在多个机构进行的随机临床试验中的基因小组测试。(三)评估工作成效 在多个不同人群中实施决策援助。 这些决策辅助工具将为高质量的决策和 围绕遗传性癌症综合征多基因小组检测的沟通。此格式将唯一 解决目前的障碍，包括选择哪个多基因小组的复杂决定，有限 遗传顾问资源，以及执业肿瘤学家缺乏时间和专业知识。