"I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome

• Published in: Journal of psychosocial oncology Vol. 39; no. 1; pp. 54 - 73
• Main Authors: Forbes Shepherd, Rowan, Werner-Lin, Allison, Keogh, Louise A., Delatycki, Martin B., Forrest, Laura E.
• Format: Journal Article
• Language: English
• Published: United States Routledge 2021; Taylor & Francis LLC
• Subjects: Adolescent and young adult; Adolescents; Cancer; Decision making; Genetic testing; Li-Fraumeni syndrome; psychosocial; qualitative; Risk management; Teenagers; TP53; Young adults; Adolescent and young adult; psychosocial; Li–Fraumeni syndrome; qualitative; TP53; genetic testing
• ISSN: 0734-7332; 1540-7586; 1540-7586
• DOI: 10.1080/07347332.2020.1768199

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). 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. 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. AYAs undergoing genetic testing for LFS have unique support needs based on their life stage and require developmentally appropriate psychosocial care.