Impact of Pediatric Germline Testing in a Pediatric Cancer Predisposition Clinic
Growing evidence highlights that at least 15% of childhood cancer patients harbor a germline cancer predisposition, increasing the risk for developing cancer by over 10,000 fold. As such, there are increasing efforts to assess newly diagnosed youth with cancer or suspected predisposition (via family history or profiles of symptoms/clinical features) for germline predisposition. However, the research on psychosocial and behavioral outcomes of pediatric germline testing have not kept pace with advances in the testing. We propose a prospective, mixed methods, multi-informant study to assess the experience of testing and subsequent impact on caregivers and youth probands. Specifically, we aim to evaluate the perceived experience and psychosocial impact of germline testing, evaluate behavioral and familial outcomes for those with positive findings, and use qualitative interviews to further evaluate experiences and impact for those with cancer predisposition.
Project Goal: To accomplish these aims, we will follow 150 families with a child that will be tested for suspected cancer predisposition. More than one caregiver will be invited to participate, as well as the child’s proband if 12 years or greater. Measures will be completed within 1 month before testing, within 1 month post-return of results, and 6 months after return of results. A subsample will participate in interviews. We will summarize and integrate qualitative and quantitative data across participants (mothers, fathers, AYA) using mixed methods informational matrices and provide recommendations for future supportive care of those with significant germline findings.
Project Update 2023: This study surveyed over 100 families of children, adolescents or young adults undergoing genetic testing to test for genetic cancer predisposition syndrome. These children may currently have cancer, may have had cancer in the past, or may have a family history or other possible risk factors for cancer. From their survey responses (at time of genetic testing, 1 month after receipt of results, and 6 months later), we have learned caregivers of children, adolescents and young adults undergoing genetic testing who find out their child tested positive are more distressed and uncertain about their child’s future than those who don’t receive a new diagnosis of a cancer predisposition syndrome. Information from caregivers that were interviews found that caregivers were stressed because they felt guilty, helpless, and uncertain about whether their child may get cancer in the future, yet they appreciated recommendations and guidelines for how to manage the new diagnosis. Informed by this study, we aim to help families by developing and testing educational and supportive resources. Specifically, based on information we have learned from this ALSF-funded grant, we are testing tools to inform about genetic testing and self-management support interventions that can help sustain engagement in cancer control (monitoring for cancer and reducing risk of cancer) behaviors.
