Case Study: Rady Children’s Institute for Genomic Medicine speeds rare disease diagnosis with Genomenon Mastermind

Rady Children’s Institute for Genomic Medicine finds variant evidence 5-10x faster with Genomenon

Rady Children’s Institute for Genomic Medicine (RCIGM) faced the challenge of rapidly diagnosing critically ill children with genetic disorders, a process where time is of the essence. To accelerate the final and most time-consuming step of variant interpretation and evidence curation, the institute turned to the Mastermind Genomic Intelligence Platform from vendor Genomenon.

Using Genomenon's Mastermind, RCIGM automated and improved its variant curation. The platform successfully found crucial published evidence for a rare variant that other databases missed, directly leading to a rapid diagnosis for an infant with a severe immune deficiency. This result allowed for precise treatment before the onset of severe symptoms. Genomenon's solution demonstrably decreased turnaround time and, in a review of recent cases, consistently provided more useful references than other tools, helping to get healthy outcomes for patients.

Rady Children’s Institute for Genomic Medicine (rcigm)