Case Study: Intermountain Health accelerates endometrial cancer variant interpretation with Genomenon Mastermind

Intermountain Health uncovers 83% more rare disease patients with Genomenon

Intermountain Health, a healthcare system based in Utah, faced the challenge of efficiently curating and interpreting a high volume of complex genomic variants to inform precision cancer care for its patients. To tackle this, the organization's Precision Genomics team turned to Genomenon and its Mastermind Genomic Search Engine to enhance their workflow and uncover critical evidence buried in scientific literature.

By integrating Mastermind into their variant curation process, the team at Intermountain Health was able to rapidly find and analyze published evidence for emerging biomarkers like POLE and PIK3R1 in endometrial cancer. Using Genomenon's platform, they efficiently characterized lesser-known variants, identified their association with patient prognosis and treatment response, and uncovered clinical trial data linking specific mutations to therapy sensitivities. This solution provided the evidence needed to support more informed and potentially life-saving treatment decisions for their patients.

Intermountain Health