npj Genomic Medicine (Mar 2025)
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
- 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
Affiliations
- Sabrina Malone Jenkins
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Rachel N. Palmquist
- Center for Personalized Medicine, Primary Children’s Hospital, Intermountain Healthcare
- Barry Moore
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Steven E. Boyden
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Thomas J. Nicholas
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Pinar Bayrak-Toydemir
- Institute for Research and Innovation, ARUP Laboratories
- Rong Mao
- Institute for Research and Innovation, ARUP Laboratories
- J. Andrew R. Farrell
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Carson H. Holt
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Shawn G. Rynearson
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Chelsea M. Solorzano
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Alistair Ward
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- D. Hunter Best
- Institute for Research and Innovation, ARUP Laboratories
- Najla Al-Sweel
- Institute for Research and Innovation, ARUP Laboratories
- Dawn L. Bentley
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Luca Brunelli
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Clement Y. Chow
- Department of Human Genetics, University of Utah
- Devin W. Close
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Michael J. Cormier
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Malia J. Deshotel
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Jacob Durtschi
- Institute for Research and Innovation, ARUP Laboratories
- Erik J. Eide
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Luaiva Floyd
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Eric K. Fredrickson
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Makenzie L. Fulmer
- Institute for Research and Innovation, ARUP Laboratories
- Edgar J. Hernandez
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Ashley L. Kapron
- Center for Genomic Medicine, University of Utah
- Mary Anne Karren
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Robert G. Lewis
- Institute for Research and Innovation, ARUP Laboratories
- Christine E. Miller
- Institute for Research and Innovation, ARUP Laboratories
- L. Charles Murtaugh
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Kelsey E. Nicholson
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Katherine Noble
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Brendan D. O’Fallon
- Institute for Research and Innovation, ARUP Laboratories
- John M. O’Shea
- Institute for Research and Innovation, ARUP Laboratories
- David C. Pattison
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Brent S. Pedersen
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Brandy J. Petersen
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Bennet D. Peterson
- Department of Biomedical Informatics, University of Utah
- Lucilla Pizzo
- Institute for Research and Innovation, ARUP Laboratories
- Hayley M. Reynolds
- University of Utah School of Medicine
- Paul Rindler
- Institute for Clinical and Experimental Pathology, ARUP Laboratories
- Carrie B. Torr
- Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine
- Ting Wen
- Institute for Research and Innovation, ARUP Laboratories
- H. Joseph Yost
- Molecular Medicine Program, Department of Pediatrics and Department of Neurobiology, University of Utah
- Jian Zhao
- Institute for Research and Innovation, ARUP Laboratories
- Mark Yandell
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Gabor T. Marth
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- Aaron R. Quinlan
- Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah
- John C. Carey
- Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine
- Brian J. Shayota
- Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine
- Martin Tristani-Firouzi
- Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine
- Joshua L. Bonkowsky
- Center for Personalized Medicine, Primary Children’s Hospital, Intermountain Healthcare
- DOI
- https://doi.org/10.1038/s41525-025-00483-7
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 11
Abstract
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.
