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

2020; Taylor & Francis; Volume: 39; Issue: 1 Linguagem: Inglês

10.1080/07347332.2020.1768199

1540-7586

Rowan Forbes Shepherd, Allison Werner‐Lin, Louise Keogh, Martin B. Delatycki, Laura Forrest,

Ethics and Legal Issues in Pediatric Healthcare

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.