Integration of multimodal cancer predisposition genetic counseling practices within the pediatric oncology setting

项目摘要 最近的进展导致儿童癌症易感性的检测和鉴定迅速增加。 越来越多的证据表明，≥15%的儿童癌症患者患有生殖系（遗传性）癌症 易感性，其中一些与癌症风险增加10，000倍有关。在进行癌症检测之前 因此，重要的是，家庭了解风险和利益，法律的保护，以及可能的 积极成果的结果。此外，积极的结果通常表明需要终身随访，包括 复杂的癌症监测，家庭可能难以理解和实施。不幸的是， 没有足够的遗传咨询师来满足基因检测前后的咨询需求 在阳性病例中，支持癌症监测。因此，迫切需要创新和可扩展的 干预措施，有效地分配资源和优化护理的儿科患者接受测试， 癌症易感性及其家庭。这项研究的长期目标是开发干预措施， 转变对接受癌症易感性检测和患有癌症易感性的儿童和青少年的护理 综合征（CPS）通过增加获得有效的遗传咨询资源。利用我们现有的数字 健康研究，这项研究将开发和评估新的技术为基础的工具，以纳入 标准护理目标1将开发和评估视频的可接受性、可行性和初步疗效 在基因检测时针对患者的信息需求。参加者将是儿童的家庭或 接受配对肿瘤/正常测序的新癌症诊断的青少年（n=150），包括 儿童先证者（任何年龄）和12岁以上先证者的照顾者。参与者将获得标准的医生- 在测试前提供教育（n=75;第1年），或者还将观看添加到 标准治疗（n=75; 2年），并将在接受基因检测前后完成调查措施 结果将比较队列的结局指标。目标2将制定和评价可接受性， PrePARE的可行性和初步疗效（易感性计划，调整，建议， 教育）开放获取、个性化、数字化护理计划和随附的预约短信 在患有已知CPS的儿童和青少年中进行癌症监测所需的提醒。先证 （n=88）CPS患者将收到PrePARE护理计划和随附的短信提醒。照顾者 儿科先证者（任何年龄）和12岁以上先证者将在PrePARE分娩前后完成测量。 将比较干预前后的受试者评分。除了可接受性指数和 可行性，这两个目标的结果措施包括基因检测和监测的知识，痛苦， 和决策满意度。这项研究的成功完成将创造新颖的，可扩展的，可推广的 为家庭提供数字支持，以加强遗传咨询服务，为遗传咨询提供最佳做法， 并为未来的多地点试验提供信息，以进一步评估新工具的影响。

PROJECT SUMMARY Recent advances have led to a rapid increase in the testing and identification of cancer predisposition in children. There is growing evidence that ≥15% of childhood cancer patients harbor a germline (heritable) cancer predisposition, some of which are associated with a 10,000-fold increased cancer risk. Prior to testing for cancer predisposition, it is important that families understand the risks and benefits, legal protections, and possible outcomes of positive results. Moreover, positive results usually indicate the need for lifelong follow-up, including complex cancer surveillance, which can be difficult for families to understand and implement. Unfortunately, there are not enough genetic counselors to meet the demand for counseling before and after genetic testing and, in positive cases, to support cancer surveillance. Thus, there is a critical need for innovative and scalable interventions that efficiently allocate resources and optimize care for pediatric patients receiving testing for cancer predisposition and their families. The long-term goal of this research is to develop interventions that will transform care for children and adolescents undergoing testing for, and living with, cancer predisposition syndromes (CPS) by increasing access to effective genetic counseling resources. Leveraging our existing digital health research, this study will develop and evaluate novel technology-based tools to be incorporated into standard care. Aim 1 will develop and evaluate the acceptability, feasibility, and preliminary efficacy of a video that targets patient informational needs at the time of genetic testing. Participants will be families of children or adolescents with a new cancer diagnosis receiving paired tumor/normal sequencing (n=150), including caregivers of pediatric probands (any age) and probands age 12+. Participants will receive standard physician- delivered education prior to testing (n=75; Yr 1) or will have also viewed the newly created video added to standard of care (n=75; Yr 2), and will complete survey measures before and after receipt of genetic testing results. The cohorts will be compared on outcome measures. Aim 2 will develop and evaluate the acceptability, feasibility, and preliminary efficacy of PrePARE (Predisposition Planning, Adjustment, Recommendations, and Education) an open access, individualized, digital care plan and accompanying text messages of appointment reminders necessary for cancer surveillance, among children and adolescents with a known CPS. Probands (n=88) with a CPS will receive a PrePARE care plan and accompanying text message reminders. Caregivers of pediatric probands (any age) and probands age 12+ will complete measures pre- and post-delivery of PrePARE. The participant scores will be compared pre and post intervention. In addition to indices of acceptability and feasibility, outcomes measures for both aims include knowledge of genetic testing and surveillance, distress, and decisional satisfaction. The successful completion of this study will create novel, scalable, and generalizable digital supports for families to augment genetic counseling services, inform best practices for genetic counseling, and inform a future multisite trial to further evaluate the impact of the new tools.