Abstract
Purpose
This study explored the genetic testing experiences of adolescents and young adults (AYAs; aged 15–39 years) with, or at 50% risk of, an early onset cancer predisposition syndrome: Li–Fraumeni syndrome (LFS).
Design
We used interpretive description and conducted semi-structured interviews with 30 AYAs (mean age 25.5 years): 26 with LFS and four at 50% risk. Findings were developed using team-based, inductive thematic analysis.
Findings
Participants reported genetic testing uptake to reduce uncertainty about their gene status and to access cancer risk management. Learning their gene status, however, introduced a new uncertainty about living with high multi-organ cancer risk. Participants preoccupied with surviving cancer during diagnostic testing underestimated the implications of LFS. Reliance on family at this life stage complicated decision-making for genetic testing, especially among adolescents.
Conclusion
AYAs undergoing genetic testing for LFS have unique support needs based on their life stage and require developmentally appropriate psychosocial care.
Acknowledgments
Thank you to all the adolescents and young adults who participated in this study and so readily shared their experiences; this study would not have been possible without them.
Disclosure statement
No potential conflict of interest was reported by the authors.