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

项目总结 最近的进展导致对儿童癌症易感性的检测和识别迅速增加。 越来越多的证据表明，≥15%的儿童癌症患者患有生殖系(可遗传)癌症 易感性，其中一些与癌症风险增加10,000倍有关。在做癌症检测之前 对于易感性，重要的是家庭了解风险和好处，法律保护，以及可能的 积极结果的结果。此外，积极的结果通常表明有必要采取终身后续行动，包括 复杂的癌症监测，家庭很难理解和实施。不幸的是， 基因咨询人员不足，无法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，对创新和可扩展的需求非常迫切 为接受检测的儿科患者有效分配资源和优化护理的干预措施 癌症易感性和他们的家庭。这项研究的长期目标是开发干预措施， 改变对接受癌症易感性测试并患有癌症的儿童和青少年的护理 通过增加获得有效遗传咨询资源的机会，减少对综合病症(CPS)的认识。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基于技术的工具，以纳入 标准护理。目标1将开发和评估视频的可接受性、可行性和初步效果 它针对的是基因测试时患者的信息需求。参与者将是儿童的家庭或 新诊断为癌症的青少年接受成对的肿瘤/正常测序(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。参赛者将获得标准医生- 在测试前提供培训(n=75；1年)，或者还将观看添加到 护理标准(n=75；2年)，并将在接受基因检测之前和之后完成调查措施 结果。这些队列将在结果衡量标准上进行比较。目标2将开发和评估可接受性， 准备的可行性和初步效果(倾向计划、调整、建议和 教育)开放访问、个性化、数字护理计划和随附的预约短信 对患有已知CPS的儿童和青少年进行癌症监测所需的提醒。先驱者 (n=88)有CPS的患者将收到准备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岁以上先证者将完成产前和产后准备措施。 参与者的分数将在干预前后进行比较。除了可接受性和可接受性指数 这两个目标的可行性和结果衡量标准包括基因检测和监测的知识、痛苦、 和决策满足感。这项研究的成功完成将创造出新颖、可扩展和可推广的 为家庭提供数字支持，以增强遗传咨询服务，告知遗传咨询的最佳做法， 并通知未来的多点试验，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.