Overcoming barriers to tumor genomic profiling through direct-to-patient outreach

To overcome barriers to genomic testing for patients with rare cancers, a multicenter program offered free clinical tumor genomic testing in patients recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors, and pediatric cancers. Among 333 patients enrolled, 250 had tumor DNA of sufficient quality for MSK-IMPACT testing. Among the histiocytosis patients having received genomically guided therapy, 94% had clinical benefit with a mean treatment duration of 21.7 months (range 6-40+). Actionable genomic alterations were seen in 28% of patients with ovarian germ cell tumors. One of these patients with high tumor mutational burden had a complete response to pembrolizumab. The authors conclude that direct-to-patient outreach can facilitate the assembly of cohorts of rare cancers of sufficient size to define their genomic landscape.