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.
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 - February 2021
Undeterred by COVID-19, we have continued to connect with families whose children are undergoing genetic testing to assess possible cancer predisposition. These children may currently have cancer, may have had cancer in the past, or may have a suspected predisposition based on family history or other possible risk factors. The “children” being tested range from infants to young adults. The 50 families enrolled thus far have been very generous with their time and very engaged in the study. From their data (surveys at time of testing, one month after receipt of results, and six months later), we have learned that their genetic knowledge and decisional satisfaction around testing is high. However, not surprisingly, those caregivers of children with positive results report higher distress and uncertainty. Interviews thus far with those with positive results reveal varying perspectives on communicating results, guilt, and adjustment. The results thus far indicate that families are receiving support around the decision to get tested and gain knowledge about genetic testing, but they can use more support in processing results and managing recommendations long-term. We are already translating these preliminary findings into improving psychosocial support for families and are developing new interventions to test in future grants.