Rowan Forbes Shepherd1,2,3, Allison Werner-Lin4, Louise A Keogh5, Martin B Delatycki3,6,7, Laura E Forrest1,2. 1. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia. 2. Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia. 3. Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia. 4. School of Social Policy and Practice, The University of Pennsylvania, Philadelphia, Pennsylvania, USA. 5. Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia. 6. Department of Paediatrics, The University of Melbourne, Melbourne, Australia. 7. Victorian Clinical Genetics Service, Parkville, Victoria, Australia.
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.
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.
Entities:
Keywords:
Adolescent and young adult; Li–Fraumeni syndrome; TP53; genetic testing; psychosocial; qualitative