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.
