Genomenon and Rady Children’s Institute for Genomic Medicine Collaborate to Accelerate Diagnosis of Rare Genetic Disorders in Newborns

Share Article

Mastermind Genomic Search Engine Now Part of RCIGM’s Analysis and Variant Interpretation Workflow

Dr. Stephen Kingsmore of Rady Children's Institute for Genomic Medicine and Mastermind from Genomenon
"Using Mastermind enhances our ability to provide clinicians at the bedside with important relevant information about known treatments and interventions." Stephen Kingsmore, MD, DSc, President & CEO, Rady Children’s Institute for Genomic Medicine

The Rady Children’s Institute for Genomic Medicine (RCIGM) and Genomenon, Inc. today announced a strategic collaboration to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Genomenon’s Mastermind Genomic Search Engine to advance precision medicine for infants in an intensive care setting.

Under the collaboration, the use of Mastermind has become part of RCIGM's standard analysis and interpretation workflow. The use of Mastermind has enhanced RCIGM’s rapid Whole Genome Sequencing (rWGS) workflow by helping to identify and curate diagnostic variants to help deliver precision medicine genomic results in a matter of days.

One example of the impact was in the case of a child with an immune deficiency. Mastermind helped identify a critical scientific publication that allowed the RCIGM team to solidify the diagnosis. The information also allowed the medical team caring for the child to pursue a targeted therapy that drastically improved the patient’s condition.

“Our team is focused on using rapid Whole Genome Sequencing™ as part of a healthcare delivery system, not a standalone test. We don’t stop with providing a molecular diagnosis, we seek to empower medical teams to deliver disease-specific care,” said Stephen Kingsmore, MD, DSc, President and CEO of the Institute. “Using Mastermind enhances our ability to provide clinicians at the bedside with important relevant information about known treatments and interventions.”

Due to the vast amount of published genomic data, finding the scientific publications – sometimes a single article as in the case above – containing the information needed to unlock the diagnosis for a patient with a rare disease is very challenging. To address this issue, Genomenon created Mastermind, a comprehensive database of the genomic literature – all publications that contain information about genes or genetic disease, including rare genetic disease. Mastermind does this with its proprietary Genomics Language Processing (GLP) capability – an artificial intelligence (AI) text analysis technique focused on the complexities and idiosyncrasies of genetics and pathology.

Armed with Mastermind, the team at RCIGM have a tool that can be critical in finding causal variants and associated information, which is key in rare disease diagnosis.

About Rady Children’s Institute for Genomic Medicine

The Institute is leading the way in advancing disease-specific healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego and a growing network of more than 40 children’s hospitals nationwide. The vision is to expand delivery of this life-saving technology to enable the practice of Rapid Precision Medicine™ at children’s hospitals across the nation and the world. RCIGM is a subsidiary of Rady Children’s Hospital and Health Center. Learn more at http://www.RadyGenomics.org. Follow us on Twitter and LinkedIn.

Rady Press Contact                                     
Grace Sevilla 1-858-966-1710 gSevilla@rchsd.org

About Genomenon

Genomenon is a genomic health IT company that connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases.

The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.

Mastermind Genomic Landscapes inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

Genomenon was named 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan.

For more information, visit Genomenon.com

Share article on social media or email:

View article via:

Pdf Print

Contact Author

Candace Chapman
Genomenon
+1-734-219-5175
Email >
@genomenon
Follow >
Visit website