“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. 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
• genetic testing
• Li–Fraumeni syndrome
• psychosocial
• qualitative
• TP53

Acknowledgments

Thank you to all the adolescents and young adults who participated in this study and so readily shared their experiences; this study would not have been possible without them.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

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.