Improving Global Access to Genomic Profiling in Rare Pediatric Cancers.

ABSTRACT:

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

SUBMITTER: Farouk Sait S 

PROVIDER: S-EPMC12233128 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature