Prospective Trial of a Linguistically and Culturally Appropriate Mainstreaming Model for Hereditary Cancer Multigene Panel Testing Among Diverse Cancer Patients

项目摘要 提供遗传咨询和检测的高效而有效的模式是迫切需要的， 对及时的遗传风险信息的需求日益增加。传统的生殖系基因检测模型， 包括在检测前后进行深入遗传咨询，需要大量时间和大量地点 对有限的遗传咨询师队伍的要求。一个“主流化”模式，允许非遗传学 医疗保健提供者在没有基因咨询的情况下进行基因检测， 辅导员在结果披露时，已经表现出了承诺。然而，以往对主流化模式的评价 研究受到严重限制：研究仅限于BRCA 1/2检测的背景下， 没有反映多基因面板测试（MGPT）的日益增长的使用;很少使用严格的实验研究设计 或评估理论上相关的决策，心理社会和沟通结果;没有 利用机会改善测试后的临床和家庭沟通;既不包括也不 满足少数民族和医疗服务不足的患者的信息需求。我们克服了这些限制 与拟议的研究，其目的是开发，测试和评估一个语言和文化 适当的主流化（LCAM）模型，用于遗传性癌症MGPT的癌症患者， 种族/民族、语言和教育。我们将首先使用形成性研究方法，包括创译 和认知访谈，以适应现有的测试前的教育材料和测试后的临床沟通 在我们的社区医院合作地点（国王）接受治疗的不同人群中使用的材料 县医院中心，皇后区癌症中心）。接下来，我们将进行一项涉及英语、海地语 诊断为乳腺癌、卵巢癌、胰腺癌或前列腺癌的克里奥尔语或西班牙语患者（N=500）。 患者将被随机化以通过以下任一方式获得癌症MGPT：i）标准护理，其中在- 通过远程遗传学提供深入的测试前和测试后遗传咨询（即，提供视频会议 在研究中心诊所）与标准的测试后临床沟通材料，或ii）LCAM干预，其中 患者接受经过调整的预测试教育材料，并由其肿瘤科医生进行测试， 通过电话提供检测后遗传咨询，并提供适当的临床沟通材料。患者 将在基线时完成对决策、心理社会和行为结果的评估， 决定是否进行MGPT，以及在收到测试结果后的1周和6个月。长期 还将探讨接受不确定意义变异（VUS）结果的患者的参与 在收到结果一年后，通过接受提议讨论癌症风险或变异的任何变化 重新分类和额外评估。这项研究有可能改变遗传咨询 通过促进有效的风险沟通、决策制定和更公平的交付， 基因组药物的应用于那些有遗传性癌症综合征风险的人。

PROJECT SUMMARY Efficient yet effective models for delivering genetic counseling and testing are sorely needed to meet increasing demands for timely genetic risk information. Traditional germline genetic testing models, which include in-depth genetic counseling both before and after testing, are time intensive and place substantial demands on the limited genetic counselor workforce. A “mainstreaming” model, which allows for non-genetics healthcare providers to order genetic testing without pre-test genetic counseling, with support from genetic counselors at the time of result disclosure, has shown promise. Yet, past evaluations of mainstreaming models have been hampered by serious limitations: Studies were restricted to the context of BRCA1/2 testing and do not reflect the growing use of multigene panel testing (MGPT); rarely used rigorous experimental study designs or evaluated theoretically-relevant decision-making, psychosocial, and communication outcomes; have not capitalized on opportunities to improve post-test clinical and familial communication; and neither included nor addressed informational needs of minority and medically underserved patients. We overcome these limitations with the proposed study, the objective of which is to develop, test, and evaluate a linguistically and culturally appropriate mainstreaming (LCAM) model for hereditary cancer MGPT among cancer patients diverse in race/ethnicity, language, and education. We will first use formative research methods, including transcreation and cognitive interviewing, to adapt existing pre-test educational materials and post-test clinical communication materials for use among the diverse population treated at our community hospital partnering sites (Kings County Hospital Center, Queens Cancer Center). Next, we will conduct an RCT involving English, Haitian Creole, or Spanish-speaking patients diagnosed with breast, ovarian, pancreatic, or prostate cancer (N=500). Patients will be randomized to obtain access to cancer MGPT through either: i) standard-of-care wherein in- depth pre-test and post-test genetic counseling are provided via telegenetics (i.e., videoconferencing delivered at the site clinic) with standard post-test clinical communication materials, or ii) LCAM intervention wherein patients receive the adapted pre-test educational materials with testing ordered by their oncologist, followed by post-test genetic counseling provided via telephone with adapted clinical communication materials. Patients will complete assessments of decision-making, psychosocial, and behavioral outcomes at baseline, upon deciding whether to have MGPT, and at 1-week and 6-months following receipt of their test results. Long-term engagement among patients who receive a variant of uncertain significance (VUS) result will also be explored one year after result receipt through uptake of an offer to discuss any changes in cancer risk or variant reclassification and an additional assessment. This research has the potential to transform genetic counseling and testing practice by promoting effective risk communication, decision making, and more equitable delivery of genomic medicine to those at risk of hereditary cancer syndromes.