Case Study: CDC accelerates newborn screening variant interpretation with Genomenon Mastermind

CDC accelerates newborn variant interpretation with Genomenon’s 5-10x faster evidence search

The Centers for Disease Control and Prevention (CDC) faced significant challenges in its newborn screening programs due to the manual and time-consuming process of variant interpretation. This reliance on extensive literature review created bottlenecks, strained resources, and threatened the ability to meet strict federal timelines for delivering timely diagnoses to infants.

To address this, the CDC integrated Genomenon’s Indexed Data API, powered by the Mastermind Genomic Intelligence Platform, into its new ED3N platform. This solution provided CDC programs with real-time access to expertly curated variant evidence, which significantly reduced the time spent on manual literature review. The integration improved confidence in variant interpretation and enabled the CDC to maintain timely diagnoses while incorporating sequencing into its workflow.

Centers for Disease Control and Prevention (CDC)