Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome, characterized by a high risk of developing cancer
at various sites and ages. To date, limited clinical benefits of genetic testing for LFS have been demonstrated, and there
are concerns about the potential adverse psychosocial impact of genetic testing for LFS. In this study, we evaluated the uptake
of genetic testing and the psychosocial impact of undergoing or not undergoing a genetic test for LFS.
In total, 18 families with a p53 germline mutation in the Netherlands were identified. Eligible family members
were invited to complete a self-report questionnaire assessing motives for undergoing or not undergoing genetic testing, LFS-related
distress and worries, and health-related quality of life.
Uptake of presymptomatic testing was 55%
(65 of 119). Of the total group, 23% reported clinically relevant levels of LFS-related distress. Carriers were not significantly
more distressed than noncarriers or than those with a 50% risk who did not undergo genetic testing. Those with a lack of social
support were more prone to report clinically relevant levels of distress (odds ratio, 1.3; 95% CI, 1.0 to 1.5).
Although preventive and treatment options for LFS are limited, more than half of the family members from known LFS families
choose to undergo presymptomatic testing. An unfavorable genetic test result, in general, does not cause adverse psychological
effects. Nonetheless, it is important to note that a substantial proportion of individuals, irrespective of their carrier
status, exhibit clinically relevant levels of distress which warrant psychological support.