Improving Delivery of Genetic Services to High Risk Childhood Cancer Survivors: A Randomized Study of Remote Genetic Services Versus Usual Care

项目摘要 生殖系癌症基因检测已成为一种标准的循证实践，降低了风险， 遗传携带者的癌症筛查指南。然而，许多高危患者无法获得基因治疗 服务，留下许多基因携带者身份不明。鉴于越来越多的精准医疗应用， 遗传服务提供者的劳动力有限且受地理限制，遗传服务的创新交付模式 满足地理和社会人口多样性患者需求的服务 需要当地卫生保健系统的人口。获得遗传服务的机会欠佳是一个严重的问题， 儿童癌症幸存者的问题，谁有后续恶性肿瘤（SMN）的高比率。 研究表明，>10%的幸存者在癌症中携带致病性或可能致病的生殖系突变。 易感基因（例如，TP53，BRCA 1/2）。为了识别高危幸存者，以便早期监测， 干预，NCCN和儿童肿瘤组指南建议幸存者与个人 和/或癌症家族史，转介遗传服务。然而，<15%的幸存者可以获得 遗传咨询服务，幸存者和他们的初级保健提供者（PCP）在很大程度上 不知道自己的健康风险，因此，遵守高风险监测准则的程度很低。我们的研究在 有个人或家族癌症史的成年患者建议远程遗传服务（通过电话或 视频会议）可增加获得遗传服务和识别基因突变携带者的机会。然而， 我们目前的研究已经检查了这些模型与社区肿瘤学实践的现场合作， 可伸缩性这对于广泛分布在全国的儿童癌症幸存者来说尤其重要 超过85%的人正在接受PCP的护理。因此，我们的前提是，我们适应在家里，协作 远程远程遗传服务的PCP模型可以提供一个可扩展的模型， 为幸存者提供癌症遗传服务的循证建议我们提出了一个3臂随机 儿童癌症幸存者研究（CCSS）中的混合1有效性和实施研究，以评估 我们的家庭，远程遗传服务的协作PCP模型的有效性，以增加吸收 与常规治疗相比，儿童癌症幸存者的癌症基因检测（目标1），以评估 视频会议的有效性，以提供更大的知识增长，减少痛苦， 与远程电话服务相比的抑郁症（目标2a），患者结局的调节因素（目标2b），以及 三个研究组的成本评价（目标2c）。此外，我们还将进行多方利益相关者的混合方法 实施评估，以了解患者、提供者和与我们的 远程遗传服务模式、促进因素和障碍，以及对未来的建议 适应性和可持续性（目标3）。我们预计我们的研究结果将为进一步的研究提供关键数据 在癌症幸存者和其他需要遗传服务的人群中传播这些服务。

PROJECT SUMMARY Germline cancer genetic testing has become a standard evidence-based practice, with risk reduction and cancer screening guidelines for genetic carriers. Yet, many at-risk patients do not have access to genetic services, leaving many genetic carriers unidentified. Given increasing precision medicine applications, and a limited and geographically restricted workforce of genetic providers, innovative delivery models for genetic services that are responsive to the needs of geographically and sociodemographically diverse patient populations in their local health care systems are needed. Suboptimal access to genetic services is an acute problem for childhood cancer survivors, who have high rates of subsequent malignant neoplasms (SMN). Studies indicate that >10% of survivors carry a pathogenic or likely pathogenic germline mutation in cancer susceptibility genes (eg. TP53, BRCA ½). In order to identify high-risk survivors for early surveillance and intervention, NCCN and Children's Oncology Group Guidelines recommend that survivors with a personal and/or family history of cancer be referred for genetic services. However, <15% of these survivors have access to genetic counseling services and both survivors and their Primary Care Providers (PCPs) are largely unaware of their health risks and thus, adherence to high-risk surveillance guidelines is low. Our studies in adult patients with a personal or family history of cancer suggest that remote telegenetic services (by phone or videoconferencing) may increase access to genetic services and identification of genetic mutation carriers. Yet, our current studies have examined these models partnering on-site with community oncology practices, limiting scalability. This is of particular importance for childhood cancer survivors, who are widely distributed nationally and >85% are receiving their care with PCPs. Thus, our premise is that our adapted in-home, collaborative PCP model of remote telegenetic services can provide a scalable model that will result in increased uptake of evidence-based recommendations for cancer genetic services in survivors. We propose a 3-arm randomized Hybrid 1 effectiveness and implementation study in the Childhood Cancer Survivor Study (CCSS) to evaluate the effectiveness of our in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care (Aim 1), to evaluate the effectiveness of videoconferencing to provide greater increase in knowledge, and decrease in distress and depression as compared to remote phone services (Aim 2a), the moderators of patient outcomes (Aim 2b), and a cost evaluation of the three study arms (Aim 2c). Also, we will conduct a multi-stakeholder mixed-methods implementation evaluation to understand patient, provider and system factors associated with uptake of our remote telegenetic services model, facilitators and barriers to uptake, and recommendations for future adaptation and sustainability (Aim 3). We expect our findings will provide critical data for the basis for further dissemination of these services among cancer survivors and other populations in need of genetic services.