Adolescents' Experiences With Sequencing for Genetic Predisposition in Pediatric Cancer: A Quantitative Study

Abstract

Background: Germline sequencing is increasingly integrated into pediatric oncology, yet data on adolescents' experiences with genetic testing remain limited. Aims: To explore adolescents' knowledge, expectations, hopes, worries, satisfaction, and regret related to germline sequencing in the context of pediatric cancer. Methods: Adolescents with cancer (aged 12–18 years) who underwent cancer predisposition gene panel sequencing (143 genes) completed questionnaires at two time points: after providing consent and after receiving results. The questionnaires assessed genetics knowledge, expectations, hopes, worries, satisfaction, and decisional regret. Results: Of 109 eligible adolescents, 46 completed the first measurement, and 38 completed the second. Before disclosure of results, participants on average answered 49% of the genetics knowledge statements correctly. Nearly all hoped their participation would benefit future patients, and many expressed personal hopes, such as understanding why they developed cancer and whether their future offspring might be at risk. Worries were common, with fear of cancer recurrence being the most frequently reported concern, followed by concerns about risks to future offspring. Adolescents who received a negative test result (36 out of 38 of our sample), reported high satisfaction with study participation and low levels of regret. Conclusions: Adolescents with cancer generally report positive experiences with germline sequencing, despite limited genetics knowledge and prevalent worries. Adolescents are not only concerned about their own health, but also about the health of family members, future offspring, and potential future patients.