PDF(Pubmed)
Abstract：
BACKGROUND: Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for genetic carriers. Access to genetic services is limited in many places, which leaves many genetic carriers unidentified and at risk for late diagnosis of cancers and poor outcomes. This poses a problem for childhood cancer survivors, as this is a population with an increased risk for subsequent malignant neoplasms (SMN) due to cancer therapy or inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluates the effectiveness of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care options for genetic testing.
METHODS: The ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services.
CONCLUSIONS: With many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine.
BACKGROUND: This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.
METHODS: The ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services.
CONCLUSIONS: With many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine.
BACKGROUND: This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.
摘要：
背景：生殖系癌症基因检测已成为一种标准的循证实践，有既定的风险降低和遗传携带者筛查指南。在许多地方获得遗传服务的机会有限,这使得许多遗传携带者身份不明，并且有晚期诊断癌症和不良预后的风险。这给儿童癌症幸存者带来了一个问题，因为这是一个人群，由于癌症治疗或遗传性癌症易感性，其随后的恶性肿瘤（SMN）的风险增加。在遗传服务中参与和激活癌症幸存者（ENGAGE）研究评估了在家中，与基因检测的常规护理选择相比，远程远程遗传服务的协作PCP模型可增加儿童癌症幸存者对癌症基因检测的吸收。
方法：ENGAGE研究是在儿童癌症幸存者研究人群中进行的3臂随机混合1型有效性和实施研究，该研究测试了临床干预措施，同时收集了有效性试验期间的信息及其在360名参与者中未来实施的潜力。参与者被随机分为三臂。那些随机分配到A组的人通过视频会议获得遗传服务，B臂的人通过电话接收这些服务，那些随机分配到C组的人将接受常规护理服务。
结论：在获得遗传服务方面存在许多障碍，需要创新的交付模式来解决这一差距并增加对遗传服务的吸收。ENGAGE研究评估了远程提供遗传服务的适应性模型的有效性，以增加儿童癌症幸存者对推荐基因检测的吸收。这项研究评估了远程遗传服务的吸收，并确定了吸收的障碍，以告知未来的建议和理论上知情的过程评估，可以告知修改以增强本研究人群的传播并实现精准医学的好处。
背景：该方案于2020年7月2日在clinicaltrials.gov（NCT04455698）注册。
方法：ENGAGE研究是在儿童癌症幸存者研究人群中进行的3臂随机混合1型有效性和实施研究，该研究测试了临床干预措施，同时收集了有效性试验期间的信息及其在360名参与者中未来实施的潜力。参与者被随机分为三臂。那些随机分配到A组的人通过视频会议获得遗传服务，B臂的人通过电话接收这些服务，那些随机分配到C组的人将接受常规护理服务。
结论：在获得遗传服务方面存在许多障碍，需要创新的交付模式来解决这一差距并增加对遗传服务的吸收。ENGAGE研究评估了远程提供遗传服务的适应性模型的有效性，以增加儿童癌症幸存者对推荐基因检测的吸收。这项研究评估了远程遗传服务的吸收，并确定了吸收的障碍，以告知未来的建议和理论上知情的过程评估，可以告知修改以增强本研究人群的传播并实现精准医学的好处。
背景：该方案于2020年7月2日在clinicaltrials.gov（NCT04455698）注册。
