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.

项目摘要 癌症护理中基因检测的适应症和需求正在迅速增长。遗传癌 综合征比以前更为普遍，基因检测是护理的标准 建立这些诊断。基因测试结果对于指导患者的靶向疗法也至关重要 既有卵巢癌和胰腺癌等肿瘤。遗传顾问传统上有 管理了测试过程，但是辅导员的辅导员很少，他们无法见面 测试需求。没有遗传辅导员，有效的测试选择，结果， 风险可能会受到损害。最具挑战性的决定之一是基因面板的选择。多- 现在的基因面板已经是规范，但是面板可以包括5或多达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，证据较弱 为了致病性。什么构成理想面板，没有共识， 因此，面板的选择是高度个性化的。支持面对这些患者的创新策略 需要时间敏感和复杂的预测试决策。 决策辅助工具非常适合通过提供教育来解决这一挑战 知情的选择，澄清个人偏好并促进共同的决策。我们建议 开发电子决策援助，以协助个人在医疗中选择多基因面板 肿瘤学家而不是遗传辅导员。我们将检验以下假设，即没有遗传的决策援助 辅导员可以促进围绕选择特定多基因面板的质量决策。此外 为了实现知识，共同决策和决策冲突的积极变化，我们预计 决策援助将及时增加对基因检测的机会。利用有效性 - 实施混合研究设计，我们提出了这些特定目的：（1）开发和试行电子 在卵巢和胰腺癌患者中选择多基因面板的决策辅助。 （2）评估 肿瘤科医生与传统的遗传辅导员会议的决策辅助功效 在多个机构的随机临床试验中进行基因面板测试。 （3）评估 在多种多样的人群中实施决策援助。 这些决策辅助工具将建立一个急需的新范式，用于质量决策和 围绕遗传性癌症综合征的多基因面板测试的通信。这种格式将唯一 解决当前的障碍，其中包括要选择哪个多基因面板的复杂决定，有限 遗传辅导员资源，缺乏实践肿瘤学家的时间和专业知识。