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

项目总结 提供遗传咨询和检测的高效而有效的模式迫切需要满足 对及时的遗传风险信息的需求日益增加。传统的生殖系基因测试模型，它 包括在检测前和检测后进行深入遗传咨询，是时间密集型的且需要大量的地方 对有限的遗传咨询师队伍的需求。一种允许非遗传学的“主流”模式 医疗保健提供者在没有检测前遗传咨询的情况下订购基因检测，并得到遗传学的支持 辅导员在公布结果时，已经显示出了希望。然而，过去对主流化模式的评价 受到严重限制：研究仅限于BRCA1/2测试和DO的背景 不反映多基因小组测试(MGPT)的日益增长的使用；很少使用严格的实验研究设计 或从理论上评估相关决策、社会心理和沟通的结果；没有 利用机会改善检测后的临床和家庭沟通；既不包括也不包括 解决少数群体和医疗服务不足患者的信息需求。我们克服了这些限制 通过拟议的研究，其目标是开发、测试和评估语言和文化方面的 遗传性癌症患者MGPT的适当主流(LCAM)模型 种族/民族、语言和教育。我们将首先使用形成性研究方法，包括转化创造 和认知访谈，以适应现有的测试前教育材料和测试后的临床沟通 供在我们的社区医院合作地点(国王)接受治疗的不同人群使用的材料 县医院中心、皇后区癌症中心)。接下来，我们将进行一次涉及英语、海地语的RCT 克里奥尔人或讲西班牙语的患者被诊断为乳腺癌、卵巢癌、胰腺癌或前列腺癌(N=500)。 患者将被随机分组，通过以下两种方式之一获得癌症MGPT：i)标准护理，其中- 通过远程遗传学提供深度测试前和测试后遗传咨询(即，提供视频会议 在现场诊所)使用标准的测试后临床交流材料，或ii)LCAM干预，其中 患者接受经过调整的测试前教育材料，其中包括由肿瘤医生订购的测试，然后是 通过电话提供测试后遗传咨询，并提供适当的临床交流材料。病人 将在基线上完成决策、心理社会和行为结果的评估， 决定是否进行MGPT，并在收到检测结果后1周和6个月内。长期的 还将探讨接受不确定意义变异(VUS)结果的患者之间的参与度 在收到结果一年后，通过接受提议来讨论癌症风险或变异的任何变化 重新分类和额外的评估。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来进行测试实践 为那些有遗传性癌症综合征风险的人提供基因药物。

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.