"I Need to Know if I'm Going to Die Young": Adolescent and Young Adult Experiences of Genetic Testing for Li-Fraumeni Syndrome

Rowan Forbes Shepherd 1 2 3, Allison Werner-Lin 4, Louise A Keogh 5, Martin B Delatycki 3 6 7, Laura E Forrest 1 2

Affiliations

PMID: 32449501
DOI: 10.1080/07347332.2020.1768199

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.

Keywords: Adolescent and young adult; Li–Fraumeni syndrome; TP53; genetic testing; psychosocial; qualitative.