The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

Abstract Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift in medicine with increasing evidence of the utility of early diagnosis, impacting management. The goal of the Utah NeoSeq Project was to implement and evaluate a multidisciplinary and longitudinal rapi...

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Main Authors: Sabrina Malone Jenkins, Rachel N. Palmquist, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Pinar Bayrak-Toydemir, Rong Mao, J. Andrew R. Farrell, Carson H. Holt, Shawn G. Rynearson, Chelsea M. Solorzano, Alistair Ward, D. Hunter Best, Najla Al-Sweel, Dawn L. Bentley, Luca Brunelli, Clement Y. Chow, Devin W. Close, Michael J. Cormier, Malia J. Deshotel, Jacob Durtschi, Erik J. Eide, Luaiva Floyd, Eric K. Fredrickson, Makenzie L. Fulmer, Edgar J. Hernandez, Ashley L. Kapron, Mary Anne Karren, Robert G. Lewis, Christine E. Miller, L. Charles Murtaugh, Kelsey E. Nicholson, Katherine Noble, Brendan D. O’Fallon, John M. O’Shea, David C. Pattison, Brent S. Pedersen, Brandy J. Petersen, Bennet D. Peterson, Lucilla Pizzo, Hayley M. Reynolds, Paul Rindler, Carrie B. Torr, Ting Wen, H. Joseph Yost, Jian Zhao, Mark Yandell, Gabor T. Marth, Aaron R. Quinlan, John C. Carey, Brian J. Shayota, Martin Tristani-Firouzi, Joshua L. Bonkowsky
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00483-7
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Summary:Abstract Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift in medicine with increasing evidence of the utility of early diagnosis, impacting management. The goal of the Utah NeoSeq Project was to implement and evaluate a multidisciplinary and longitudinal rapid sequencing program while transitioning to CLIA-certified sequencing. Enrollment of 65 infants resulted in 26 (40%) with a diagnostic variant(s) and 7 (11%) harboring a strong candidate. This includes re-analyses resulting in four additional diagnoses. Parental surveys indicated that 7% (4/59) of parents had a decisional conflict after consent, and 3% (2/59) experienced decisional regret after the results. Fifty-two provider surveys were conducted. Seventy-nine percent (41/52) of results and 86% (19/22) of diagnostic results were “very useful” or “useful” and associated with management changes. The NeoSeq Project demonstrates that a multidisciplinary collaborative approach to diagnosis is feasible. We have developed a generalizable, collaborative protocol that addresses the need for expedited genetic evaluation with emerging technologies.
ISSN:2056-7944

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