Rady Children’s Institute for Genomic Medicine (RCIGM), a non-profit organization focused on advancing disease-specific healthcare for newborns, has reportedly partnered with Michigan-based health IT firm Genomenon Inc. to boost the diagnosis of critically-ill infants with rare genetic disorders. The partnership combines Genomenon’s Mastermind Genomic Search Engine with RCIGM’s genomic research expertise to advance precision medicine for newborns in an intensive care setting.
With this partnership, the use of Mastermind has become part of the institute’s analysis and interpretation workflow. The use of Mastermind has improved rWGS (rapid Whole Genome Sequencing) workflow by helping to detect and curate diagnostic variants to deliver precision medicine genomic outcomes in a matter of days.
One instance of the impact was in the case of an infant with an immune deficiency. Mastermind search engine helped recognize a critical scientific publication that enabled the RCIGM employees to solidify the diagnosis. This information also helped the medical team caring for the children to pursue a targeted treatment that significantly enhanced the patient’s condition.
Stephen Kingsmore, MD, DSc, CEO, and President at RCIGM said that the institute is focused on using rWGS as part of the healthcare delivery system and not a standalone test. With this partnership, the institute aims to empower medical teams to offer disease-specific care; Mr. Kingsmore said adding that the use of the Mastermind platform improves its ability to offer clinicians at the bedside with relevant information about known interventions and treatments.
For the record, Genomenon’s Mastermind platform is an inclusive database of genomic literature. It includes all publications that give information about genes and genetic disease. The platform leverages the company’s Genomics Language Processing (GLP) capability- an AI-based text analysis technique focused on idiosyncrasies and complexities of genetics and pathology.
The partnership has equipped RCIGM with a tool that can be important in identifying causal variants and related information, which is pivotal in rare disease diagnosis.