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

项目总结 生殖系癌症基因检测已成为一种标准的循证做法，具有降低风险和 基因携带者癌症筛查指南。然而，许多高危患者无法获得基因 服务，留下许多遗传携带者身份不明。鉴于越来越多的精准医学应用，以及 有限的和受地域限制的遗传提供商劳动力，创新的遗传服务交付模式 响应不同地理位置和社会人口统计的患者需求的服务 他们的当地卫生保健系统中的人口是必要的。获得次优遗传服务是一个严重的问题 对于儿童癌症幸存者来说，这是一个问题，他们随后的恶性肿瘤(SMN)发生率很高。 研究表明，10%的幸存者携带致病或可能致病的癌症胚系突变。 易感基因(如TP53，BRCA1)。为了识别高危幸存者进行早期监测和 干预，NCCN和儿童肿瘤学组织指南建议患有个人 和/或癌症家族史被转介给遗传服务。然而，这些幸存者中有15%可以访问 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 没有意识到他们的健康风险，因此，遵守高风险监测指南的比例很低。我们在中国的学习 有个人或家族癌症病史的成年患者建议远程远程遗传服务(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现场与社区肿瘤学实践合作的模型，限制了 可扩展性。这对儿童癌症幸存者尤其重要，他们广泛分布在全国各地 85%的人正在接受初级保健医生的护理。因此，我们的前提是我们适应的家庭、协作 远程远程遗传服务的PCP模式可以提供可扩展的模式，从而增加对 幸存者癌症基因服务的循证建议。我们提出了一种三臂随机 儿童癌症存活者研究(CCSS)中的杂交1有效性和实施研究 我们的远程远程遗传服务的家庭协作PCP模式的有效性，以增加吸收 将儿童癌症幸存者的癌症基因检测与常规护理进行比较(目标1)，以评估 视频会议的有效性，以提供更多的知识，并减少痛苦和 抑郁症与远程电话服务的比较(目标2a)，患者结局的调节因素(目标2b)，以及 三个研究机构的费用评估(目标2c)。此外，我们还将进行多方利益相关者混合方法 实施评估，以了解与采用ORS相关的患者、提供商和系统因素 远程远程遗传服务模式、促进者和采用障碍，以及对未来的建议 适应和可持续性(目标3)。我们希望我们的发现将提供关键数据，为进一步 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.