The psychological impact of genetic testing in childhood cancer: A systematic review

Objective: Cancer predisposition syndromes are being more frequently recognized in the etiology of pediatric oncology and genetic-related technologies are evolving rapidly, leading to an increasing availability of genetic testing for families. This systematic review assessed the psychological impact of genetic testing on children and parents in the context of childhood cancer.

Methods: Searches were performed using three databases (Web of Science, Pubmed and Embase) to identify relevant empirical studies. Following Cochrane guidelines, we screened 3838 articles and identified 18 eligible studies, representing the perspectives of children and/or parents.

Results: The included studies described the impact of genetic testing in different contexts (e.g. predictive testing and diagnostic testing) and in different subgroups, (e.g. carriers and non-carriers). Overall, the studies did not identify clinically-relevant long-term increases in negative emotions (depression, anxiety, distress, uncertainty, guilt) as a result of genetic testing. Negative emotions were typically time-limited and generally occurred in families with particular characteristics (e.g. those with a history of multiple cancer diagnoses, families receiving an unfavorable result for one child and a favorable result in siblings, and those with pre-existing mental health difficulties). Positive emotions (hopefulness, relief and peace of mind) were also reported. Knowing their genetic risk status appeared to help to foster empowerment among families, regardless of the result and any associated emotions.

Conclusions: Genetic testing in pediatric oncology does not appear to cause significant additional harm and can lead to positive outcomes. Clinicians need to be especially attentive when counseling families at increased risk of distress.