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Providing A Rapid Genetic Diagnosis to Critically Ill Utah Infants

At the University of Utah, the sickest, most fragile infants receive care in the Neonatal Intensive Care Unit (NICU). Mortality rates are more than 10%, and each day a child stays in the NICU places further emotional and financial burdens on their family. In some cases, the reasons for illness in the NICU are apparent. Too often, however, the reason is unclear, with diagnosis and treatments taking months or even years to discover.

Whole genome sequencing (WGS) has the potential to transform the care and treatment of infants in the NICU. WGS can identify the genetic variants that cause many diseases. However, the typical turnaround time for a clinical WGS test is several months.

In early 2020, CGMinvestigators launched the Utah NeoSeq Project, which leverages an accelerated sequencing and analysis pipeline to provide a genetic diagnosis to NICU patients in less than a week.

Rapid genetic diagnoses provides clinicians and families the ability to make critical care decisions surrounding tests and treatments, which lead to improved outcomes and shorter NICU stays. University of Utah is one of a very small group of hospitals in the world able to offer this type of care.

Read more about the launch of this important project.

Neoseq Project Team

This project represents the strong collaboration between CGM, the Department of Pediatrics, the NICU clinical team, the Utah Center for Genetic Discovery, and ARUP Laboratories.