NeoSeq: Faster Diagnosis-Better Care

By Utah Center for Genetic Discovery and University of Utah Health

Whole genome sequencing has facilitated a far greater understanding of the biology of many organisms as well as revealed significant genetic contributions to human disease. However, leveraging sequencing based approaches for use in clinical diagnostics faces a number of logistical as well as regulatory hurdles. The University of Utah is uniquely positioned to explore the use of genome sequencing as a diagnostic tool given its extensive experience in both healthcare and research. NeoSeq is a pilot project to quickly and accurately detect genetic disorders among newborns at the University of Utah Hospital neonatal intensive care unit (NICU).  The purpose of the NeoSeq is to develop a rapid whole genome sequencing protocol to provide a genetic diagnosis for critically ill infants in the University of Utah Hospital NICU. Patients and their parents are sequenced on a research basis to identify genes that may contribute to a given disease or condition. Sequencing derived findings are further validated through clinically approved tests and shared with medical staff and caregivers to improve patient outcomes. Early and accurate diagnosis can improve outcomes, save lives, and lower treatment costs by allowing for targeted clinical interventions, abandonment of treatments likely to be ineffective, and proper referral of patients to specialists or palliative care. Additional applications include genetic counseling and future family planning. A diagnosis can also bring peace of mind to parents even when no treatment is possible. With this project, University of Utah Health joins a very small group of hospitals worldwide that are able to offer this type of care.

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