Case Study: Rady Children’s Institute for Genomic Medicine improves newborn genetic screening with Genomenon

Rady Children’s Institute for Genomic Medicine curates 400+ disease genes with Genomenon

Genomenon partnered with Rady Children’s Institute for Genomic Medicine (RCIGM) to support its novel BeginNGS newborn sequencing program. The challenge was to effectively screen for hundreds of genetic diseases by providing clinicians with a comprehensive and actionable dataset on disease-causing variants, which is critical for improving infant patient outcomes.

The solution implemented by Genomenon combined AI-powered organization with expert manual review to fully curate all genes in the BeginNGS screening panel. This provided RCIGM with a comprehensive, actionable dataset, enabling clinicians to gain powerful insights into how diseases form and how to treat them, thereby creating life-saving opportunities for patients and their families.

Rady Children’s Institute for Genomic Medicine (rcigm)