Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study

This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.

Inclusion Criteria:

Patients in the NICU less than 4 months of age with complex medical presentation of unknown etiology, who have 2 or more of the following are eligible:

• critically ill* and/or organ dysfunction

• one or more major congenital anomalies

• dysmorphic features and/or abnormal growth parameters

• neurologic impairment (seizure, hypotonia, encephalopathy)

• cardiomyopathy

• features suggestive of a metabolic disorder (eg unexplained/persistent hypoglycemia or acidosis)

  • critically ill - cardiorespiratory insufficiency requiring ventilatory or cardiac support

Exclusion Criteria:

• previously confirmed specific genetic diagnosis (antenatal or postnatal)
• obvious clinical findings for a specific condition that could be tested by targeted gene analysis
• preterm less than 24 weeks post-menstrual age
• ward of the state
• parent/legal guardian refusal to give consent for participation in the study
• patient does not meet eligibility criteria