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

项目总结

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.