Improving Global Access to Genomic Profiling in Rare Pediatric Cancers

Area of Science:

• Oncology
• Genomics
• Precision Medicine

Background:

• Philanthropic funding removed financial barriers to genomic profiling for rare pediatric cancers.
• The Make-an-IMPACT program provided no-cost clinical genomic testing worldwide.
• This study focuses on findings in pediatric patients with solid or central nervous system (CNS) tumors.

Purpose of the Study:

• To evaluate the impact of the Make-an-IMPACT program on pediatric rare cancer patients.
• To assess the clinical utility of genomic profiling in this cohort.
• To report on diagnostic, prognostic, and therapeutic findings.

Main Methods:

• Tumor DNA and CSF-derived circulating tumor DNA (ctDNA) were analyzed using the MSK-IMPACT assay.
• Targeted RNA panel sequencing supplemented testing in select cases.
• Results were disseminated to patients, families, and treating oncologists.

Main Results:

• 63 pediatric patients from 11 countries underwent successful genomic profiling.
• Clinically relevant diagnostic or prognostic information was obtained in 41% (solid tumors) and 38% (CNS tumors).
• Actionable alterations were identified in 44% of solid tumors and 21% of CSF ctDNA samples, leading to molecularly guided therapy in four patients.

Conclusions:

• The Make-an-IMPACT program successfully provided global access to advanced genomic profiling for pediatric cancer patients.
• The program delivered clinically relevant, actionable diagnostic, prognostic, and therapeutic information in real-time.
• Genomic profiling facilitated personalized treatment strategies and identified resistance mechanisms.