Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach.

ABSTRACT:

Purpose

To overcome barriers to genomic testing for patients with rare cancers, we initiated a program to offer free clinical tumor genomic testing worldwide to patients with select rare cancer subtypes.

Experimental design

Patients were recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors (GCT), and pediatric cancers. Tumors were analyzed using the MSK-IMPACT next-generation sequencing assay with the return of results to patients and their local physicians. Whole-exome recapture was performed for female patients with GCTs to define the genomic landscape of this rare cancer subtype.

Results

A total of 333 patients were enrolled, and tumor tissue was received for 288

SUBMITTER: Doe-Tetteh SA 

PROVIDER: S-EPMC10330105 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature