Families' and health care professionals' attitudes towards Li-Fraumeni Syndrome testing in children: a systematic review.

Warby M1, Wakefield CE2,3, Vetsch J2,3, Tucker KM1,4.

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Abstract

Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome caused by germline TP53 mutations. Genetic testing is not routinely offered in asymptomatic children at risk of the condition as the benefits are debatable and the attitudes of families and health care professionals (HCPs) may vary. This review assessed the attitudes of families and HCPs towards offering genetic testing to children for LFS, with a focus on perceived advantages and disadvantages and involvement of children in the decision-making process. We searched three key databases (Medline, PsycINFO and EMBASE) to identify quantitative and qualitative studies. We screened 729 articles identifying eight studies for detailed review. Most parents perceived TP53 genetic testing to be beneficial in childhood, despite previous lack of surveillance guidelines. Parents raised some concerns, including decreased insurability and diminishing the child's autonomy. Most children tested reported no negative emotional concerns after testing, even if tested positive. Despite generally positive interest clinicians remain hesitant. Most families saw the value in involving children in decision-making. Families' acceptance of TP53 testing in childhood was high. This review highlights the need for research on the long-term psychosocial impacts of testing and the attitudes of families to be reflected in professional guidelines. This article is protected by copyright. All rights reserved.