Journal article

"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, Allison Werner-Lin, Louise A Keogh, Martin B Delatycki, Laura E Forrest

Journal of Psychosocial Oncology | ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD | Published : 2020


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. Particip..

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Awarded by National Breast Cancer Foundation, Australia

Funding Acknowledgements

RFS is supported by a Melbourne Research Scholarship (The University of Melbourne, Australia). LEF is supported by a Postdoctoral Fellowship (14-009) from the National Breast Cancer Foundation, Australia.