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Families’ and health care professionals’ attitudes towards Li‐Fraumeni syndrome testing in children: A systematic review
Author(s) -
Warby Meera,
Wakefield Claire E.,
Vetsch Janine,
Tucker Katherine M.
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13442
Subject(s) - genetic testing , psychosocial , medicine , psycinfo , medline , li–fraumeni syndrome , autonomy , clinical psychology , family medicine , psychiatry , germline mutation , genetics , biology , political science , law , mutation , gene
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.