FOR IMMEDIATE RELEASE
October 7, 2020 ANN ARBOR, MI

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

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

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^TM 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.

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.

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