A Randomized Hybrid Type I effectiveness-implementation study of an Ehealth delivery Alternative for Cancer genetic testing for Hereditary cancer predisposition (eREACH)

生殖系癌症基因检测已经成为一种标准的循证做法，已经确立了降低风险的做法。 以及针对基因携带者的癌症筛查指南。然而，在许多领域，获得遗传专家的机会是有限的 在美国，有个人或家族乳腺癌或卵巢癌病史的符合条件的患者中有20%是完整的 基因测试。因此，迫切需要考虑替代的交付模式，以增加获得机会和 接受基因检测，同时保持足够的患者认知、情感和行为结果。我们的 研究表明，提供远程服务会增加社区实践中对基因检测的接受 增加了对基因检测的接受。我们正在进行的NIH资助的尊重研究的初步数据 显示出对基于网络的电子健康替代传统考试前咨询的高度兴趣，并且没有显著的不同 利用基于网络的电子健康干预作为信息披露前后结果的差异 与接受传统检测前遗传咨询的参与者相比。为了解决临床上有意义的 需要替代的交付模式，以增加获得和接受癌症基因检测的机会，同时保持 足够的患者认知、情感和行为结果，我们建议在全国范围内招募不同的“真正的-- 对1,000名患者进行“世界”抽样，这些患者在基因检测和进行混合型I型检测方面存在障碍 评估基于网络的电子健康遗传教育替代方案的有效性-实施研究 和测试。我们假设我们的理论上和利益相关者告知的eHealth交付替代方案可以 与传统模式相比，提供同等或更好的检测和基因检测结果 在检测前和检测后与遗传咨询师进行咨询。我们将与几个癌症倡导团体合作 (ASCO，Breastancer.org，癌症支持社区，宾夕法尼亚州前列腺癌联盟)招募 患者参加这项采用改进的2x2设计(目标1-2)的随机非劣势研究。在手臂1中，传统 将通过国家宾夕法尼亚州立大学远程提供测试前(访问1)和测试后(访问2：披露)咨询 Teleenetics计划，并与患者可以完成预测试和/或披露的交付臂进行比较 通过自我导向的基于网络的电子健康干预，取代传统的或作为其附属的 遗传咨询。同时，我们将进行CFIR(执行综合框架 研究)-知情的过程评估，以了解干预使用和患者结果的调节器 以及未来实施和可持续实施这一新型电子健康替代方案的促进者和障碍 癌症护理内外的遗传服务模式(目标3)。我们假设一个严格的 从理论上开发、利益相关者知情的eHealth交付替代方案，通过 技术遗传学计划有可能提供同等或改善的患者结果，同时减少基因 提供时间，并在获得遗传服务的社区实践中提供服务 有限，为实现精准医学在肿瘤学中的前景提供了机会。

Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and cancer screening guidelines for genetic carriers. Yet, access to genetic specialists is limited in many areas in the US, and <20% of eligible patients with a personal or family history of breast or ovarian cancer complete genetic testing. Thus, there is an urgent need to consider alternative delivery models to increase access and uptake of genetic testing, while maintaining adequate patient cognitive, affective and behavioral outcomes. Our research has shown that providing remote services increases uptake of genetic testing in community practices increases uptake of genetic testing. Preliminary data from our ongoing NIH-funded RESPECT study has revealed high interest in a web-based eHealth alternative to traditional pre-test counseling and no significant no differences in pre- and post-disclosure outcomes when the web-based eHealth intervention is utilized as compared to participants who received traditional pre-test genetic counselor. To address the clinically significant need for alternative delivery models to increase access and uptake of cancer genetic testing, while maintaining adequate patient cognitive, affective and behavioral outcomes, we propose to recruit a nationally diverse “real- world” sample of 1000 patients who have access barriers to genetic testing and to conduct a Hybrid Type 1 effectiveness-implementation study to evaluate web-based eHealth delivery alternatives for genetic education and testing. We hypothesize that our theoretically and stakeholder informed eHealth delivery alternatives can provide equal or better uptake of testing and outcomes of genetic testing as compared to the traditional model of pre- and post-test counseling with a genetic counselor. We will partner with several cancer advocacy groups (ASCO, breastcancer.org, Cancer Support Community, Pennsylvania Prostate Cancer Coalition) to recruit patients to this randomized non-inferiority study using a modified 2x2 design (Aims 1-2). In Arm 1, traditional pre-test (visit 1) and post-test (visit 2: disclosure) counseling will be provided remotely through the national Penn Telegenetics Program and compared to delivery arms where patients can complete pre-test and/or disclosure of results through a self-directed web-based eHealth intervention, either in place of, or as an adjunct to traditional genetic counseling. Concurrently, we will conduct a CFIR (Consolidated Framework for Implementation Research)-informed process evaluation to understand moderators of intervention usage and patient outcomes and facilitators and barriers to future implementation and sustainability of this novel eHealth alternative delivery model for genetic services both within and beyond cancer care (Aim 3). We hypothesize that a rigorously developed theoretically and stake-holder informed eHealth delivery alternative provided through a centralized Telegenetics Program has the potential to provide equal or improved patient outcomes, while reducing genetic provider time and providing access to services in community practices where access to genetic services has been limited, providing opportunities to realize the promise of precision medicine in oncology.