ENGAGE 研究：一项三臂随机混合 1 型有效性和实施研究，采用家庭式、合作式初级保健医生远程远程遗传服务模式，以提高儿童癌症幸存者癌症遗传服务的利用率。

The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic services in childhood cancer survivors.

机构信息

Department of Pediatrics, The University of Chicago, Chicago, IL, USA.

Abramson Cancer Center and Division of Hematology-Oncology, The University of Pennsylvania, Philadelphia, PA, USA.

出版信息

BMC Health Serv Res. 2024 Feb 28;24(1):253. doi: 10.1186/s12913-024-10586-z.

DOI:10.1186/s12913-024-10586-z

PMID:38414045

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10900774/

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.

DISCUSSION

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.

TRIAL REGISTRATION

This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.

摘要

背景

种系癌症遗传检测已成为一种标准的循证实践，针对遗传携带者制定了明确的降低风险和筛查指南。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无法被识别，面临癌症晚期诊断和不良结局的风险。这对儿童癌症幸存者来说是一个问题，因为由于癌症治疗或遗传癌症易感性，这一人群有增加罹患后续恶性肿瘤（SMN）的风险。ENGAGE 研究评估了一种家庭式、协作式初级保健医生远程远程遗传服务模型的有效性，该模型旨在增加儿童癌症幸存者接受癌症遗传检测的比例，与遗传检测的常规护理方案相比。

方法

ENGAGE 研究是一项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，该研究测试了一种临床干预措施，同时在有效性试验中收集了关于其实施情况的信息，以及在 360 名参与者中未来实施的潜力。参与者被随机分为三组。那些被随机分配到 A 组的人通过视频会议接受遗传服务，那些被随机分配到 B 组的人通过电话接受这些服务，那些被随机分配到 C 组的人将接受常规护理服务。

讨论

由于获得遗传服务的许多障碍，需要创新的交付模式来解决这一差距，增加遗传服务的利用率。ENGAGE 研究评估了远程遗传服务的适应性模型的有效性，以提高儿童癌症幸存者推荐遗传检测的接受率。这项研究评估了远程遗传服务的接受率，并确定了接受遗传服务的障碍，以为未来的建议和理论指导的过程评估提供信息，这可以为增强该研究人群之外的传播提供修改建议，并实现精准医学的益处。