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Updated: May 22, 2025
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Improving Global Access to Genomic Profiling in Rare Pediatric Cancers
Sameer Farouk Sait1, Tara J O'Donohue1, Tejus Bale2
1Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.
Insights
The Make-an-IMPACT program offered free genomic profiling for pediatric rare cancers globally. This provided crucial diagnostic, prognostic, and therapeutic insights, enabling targeted treatments and improving outcomes for children with solid tumors and CNS 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.
Purpose:
To address financial barriers that limit access to genomic profiling and precision medicine, philanthropy-supported clinical genomic testing was offered worldwide at no cost to patients with select rare cancers via the Make-an-IMPACT program. Herein, we report our findings in pediatric patients with solid or central nervous system tumors.
Experimental Design:
Tumor DNA or cerebrospinal fluid (CSF)-derived ctDNA was analyzed using the MSK-IMPACT assay, supplemented by targeted RNA panel sequencing in select cases. The results were returned to the patients/families and treating oncologists.
Results:
Sixty-three patients from 11 countries had successful MSK-IMPACT testing. The results provided clinically relevant new diagnostic or prognostic information in 41% and 38% of patients with solid and central nervous system tumors, respectively. Potentially therapeutically actionable alterations were identified in 44% of pediatric solid tumor and 21% of pediatric CSF-derived ctDNA samples, respectively. Four patients subsequently received molecularly guided therapy, resulting in partial responses in two and prolonged stable disease in one. Serial tumor and CSF sampling identified resistance mutations in two patients, informing additional molecularly targeted therapy recommendations.
Conclusions:
The Make-an-IMPACT program provided global access to state-of-the-art tumor and CSF genomic profiling across a diverse cohort of patients with pediatric cancer, providing clinically relevant and actionable diagnostic, prognostic, and therapeutic information reported in real-time to patients and local physicians.
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