The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
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.
Authors
- Gábor Marth (ORCID: https://orcid.org/0000-0003-0222-1694)
- Pınar Bayrak‐Toydemir (ORCID: https://orcid.org/0000-0001-9381-2478)
- Bennet Peterson (ORCID: https://orcid.org/0000-0001-7906-5146)
- E Eide
- Edgar Javier Hernandez (ORCID: https://orcid.org/0000-0003-1455-8251)
- Brent S. Pedersen (ORCID: https://orcid.org/0000-0003-1786-2216)
- Rong Mao (ORCID: https://orcid.org/0000-0002-1236-0252)
- Dawn Bentley
- John C. Carey (ORCID: https://orcid.org/0000-0002-6007-8518)
- Mary Anne Karren
- Mark D. Yandell (ORCID: https://orcid.org/0000-0002-9497-4505)
- Brendan O’Fallon (ORCID: https://orcid.org/0000-0001-7185-7894)
- Alistair Ward
- Michael J. Cormier (ORCID: https://orcid.org/0000-0002-2667-9264)
- Rachel Palmquist
- Devin Close (ORCID: https://orcid.org/0000-0002-6002-0471)
- Ashley L. Kapron
- Jian Zhao (ORCID: https://orcid.org/0000-0001-7857-4766)
- Steven E. Boyden (ORCID: https://orcid.org/0000-0002-9334-1466)
- Hayley M. Reynolds (ORCID: https://orcid.org/0000-0002-3077-5603)
- Brian J. Shayota (ORCID: https://orcid.org/0000-0003-4657-6454)
- Carrie Torr (ORCID: https://orcid.org/0000-0001-5791-8961)
- Najla Al‐Sweel
- Barry Moore
- Sabrina Malone Jenkins (ORCID: https://orcid.org/0000-0001-8810-7619)
- Malia J. Deshotel (ORCID: https://orcid.org/0000-0002-4437-5969)
- Lucilla Pizzo (ORCID: https://orcid.org/0000-0001-9325-7283)
- Luca Brunelli (ORCID: https://orcid.org/0000-0002-9542-2243)
- Chelsea Solorzano
- Katherine Noble (ORCID: https://orcid.org/0000-0002-2458-7286)
- David C. Pattison
- Kelsey Nicholson
- Martin Tristani‐Firouzi (ORCID: https://orcid.org/0000-0001-5916-442X)
- Thomas J. Nicholas (ORCID: https://orcid.org/0000-0002-4198-6414)
- Makenzie L. Fulmer (ORCID: https://orcid.org/0000-0001-7929-0896)
- Paul M. Rindler
- Joshua L. Bonkowsky (ORCID: https://orcid.org/0000-0001-8775-147X)
- Shawn Rynearson
- John J. Farrell (ORCID: https://orcid.org/0000-0001-6502-1572)
- Jacob Durtschi
- Ting Wen (ORCID: https://orcid.org/0009-0006-7209-5565)
- Aaron R. Quinlan (ORCID: https://orcid.org/0000-0003-1756-0859)
- L. Charles Murtaugh (ORCID: https://orcid.org/0000-0001-7353-4706)
- Clement Y. Chow (ORCID: https://orcid.org/0000-0002-3104-7923)
- E. D. Fredrickson (ORCID: https://orcid.org/0000-0002-2439-4089)
- H. Joseph Yost (ORCID: https://orcid.org/0000-0003-2961-5669)
- D. Hunter Best (ORCID: https://orcid.org/0000-0002-4756-4669)
- Robert G. Lewis (ORCID: https://orcid.org/0000-0002-3709-3170)
- B. Petersen (ORCID: https://orcid.org/0000-0003-3711-7352)
- John O'shea (ORCID: https://orcid.org/0000-0002-8063-7436)
- Carson Holt (ORCID: https://orcid.org/0000-0002-9864-0019)
- Christine E. Miller
- Luaiva Floyd
Institutions
- Intermountain Healthcare (US)
- Primary Children's Hospital (US)
- University of Utah (US)
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- npj Genomic Medicine
- Published
- 2025-03-22
- DOI
- https://doi.org/10.1038/s41525-025-00483-7
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- R. Harold Burton Foundation
- Ben B. and Iris M. Margolis Foundation