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

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  • 1Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States.

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Widespread genetic testing for childhood cancer predisposition syndromes (CPS) aids early detection and treatment. Further research is needed to understand the long-term impact on families for effective clinical implementation.

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Area of Science:

  • Pediatric Oncology
  • Cancer Genetics
  • Genomic Medicine

Background:

  • Significant advancements in pediatric cancer genetics driven by international precision oncology trials.
  • Recognition that 8%-18% of children with cancer have a cancer predisposition gene variant.
  • Need for optimized lifelong care for children with cancer predisposition syndromes (CPS).

Purpose of the Study:

  • Review the impact of precision oncology trials and CPS screening guidelines in pediatric oncology.
  • Summarize the influence of these initiatives on patients and healthcare providers.
  • Highlight research on genetic testing and surveillance for CPS to improve care and psychosocial outcomes.

Main Methods:

  • Review of precision oncology trials using paired tumor-germline sequencing.
  • Analysis of expert-informed screening guidelines for childhood CPS.
  • Synthesis of current research on genetic testing and cancer surveillance for CPS.

Main Results:

  • Precision oncology and guideline development have impacted pediatric cancer care.
  • Research is exploring downstream effects of genetic testing and surveillance for CPS.
  • Focus on improving efficacy, access, and psychosocial outcomes for families with CPS.

Conclusions:

  • Broadened genetic testing for childhood CPS enhances early cancer detection and treatment opportunities.
  • Longitudinal studies are crucial to assess access and family impact for clinical practice implementation.