Implementation of Genetic Testing into Childhood Cancer Care: Lessons and Future Directions

The field of pediatric cancer genetics has recently seen important advancements driven by collective international precision oncology trials and surveillance guideline development for childhood cancer predisposition syndromes (CPS). It is now recognized that 8%-18% of children with cancer will be identified with a pathogenic/likely pathogenic variant in a cancer predisposition gene. While progress has been significant, ongoing work is necessary to optimize the lifelong care of this growing population of individuals.

This review provides an overview of the impact of 2 significant movements in the field of pediatric oncology: precision oncology trials utilizing paired tumor-germline sequencing and the development of expert-informed screening guidelines for the clinical care of children with childhood CPS. We summarize the influence these initiatives have had on patients and the clinical teams and institutions caring for them. We highlight current research that aims to elucidate the downstream effects of genetic testing and cancer surveillance for CPS to improve the efficacy of and access to CPS care as well as the psychosocial outcomes for patient and families living with a CPS. Finally, we discuss important areas of future research to better identify and care for this population across their lifespan.

A broadened or universal approach to testing for childhood CPS in pediatric oncology increases opportunities for early cancer detection and treatment for children and their family members. However, longitudinal studies on access to and the impact of this information and its consequences for families are needed for implementation into clinical practice.