2ⁿᵈ Edition of the Cancer R&D World Conference 2026

Abstract

Background:
Cancer predisposition syndromes in pediatric patients remain underexplored, with limited data on the integration of genetic screening into routine oncology care. While studies like the 2015 St. Jude cohort identified germline mutations in 8.5% of pediatric cancer patients, their findings may not be generalizable across diverse healthcare systems. Our study aimed to assess the prevalence of hereditary cancer syndromes in pediatric patients within KPSC and evaluate the feasibility of implementing a system-wide genetic screening protocol.

Methods:
We conducted a cross-sectional study across multiple KPSC sites (2023–2025), utilizing an 88-gene panel via Invitae. Pediatric patients (0–18 years) with solid or liquid tumors were eligible. Physicians received structured training to integrate genetic testing into clinical workflows, and samples were collected through KPSC labs or at-home kits. Data analysis focused on mutation prevalence, physician test utilization, and implementation barriers.

Results:
Among 113 enrolled patients, 17 (15.04%) had pathogenic or likely pathogenic variants, with NF1, RB1, DIS3L2, and FANCD2 being most common. Notably, our study found a lower pathogenic mutation rate within autosomal dominant cancer predispositions (7.9%) when compared to St. Jude’s (8.5%) and only 3.5% of patients had novel mutations in these autosomal dominant genes. Implementation challenges included physician hesitancy, logistical barriers in test ordering, and patient education gaps, highlighting the need for streamlined integration of genetic counseling.

Conclusion:
While genetic screening can enhance cancer surveillance, real-world implementation poses significant hurdles. Addressing provider training, patient engagement, and system-wide adoption strategies will be critical for ensuring equitable access to genetic testing in pediatric oncology.