“I need to know if I’m going to die young”: Adolescent and young adult experiences of genetic testing for Li–Fraumeni syndrome

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. Partic..