Evidence map›Paper›PMID 40121231›Full record

ArticleNPJ genomic medicine2025

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 and 43 more

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In one paragraph

Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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1 citing paper in PubMed.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

53 authors.

Sabrina Malone JenkinsDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. Sabrina.malonejenkins@hsc.utah.edu.ORCID http://orcid.org/0000-0001-8810-7619
Rachel N PalmquistCenter for Personalized Medicine, Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA.
Barry MooreDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Steven E BoydenDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Thomas J NicholasDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Pinar Bayrak-ToydemirInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Rong MaoInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
J Andrew R FarrellDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Carson H HoltDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-9864-0019
Shawn G RynearsonDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Chelsea M SolorzanoDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Alistair WardDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
D Hunter BestInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Najla Al-SweelInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Dawn L BentleyDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Luca BrunelliDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Clement Y ChowDepartment of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Devin W CloseInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-6002-0471
Michael J CormierDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Malia J DeshotelInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-4437-5969
Jacob DurtschiInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Erik J EideDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Luaiva FloydDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Eric K FredricksonInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Makenzie L FulmerInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0001-7929-0896
Edgar J HernandezDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Ashley L KapronCenter for Genomic Medicine, University of Utah, Salt Lake City, UT, USA.
Mary Anne KarrenDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Robert G LewisInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Christine E MillerInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
L Charles MurtaughDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Kelsey E NicholsonInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Katherine NobleInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Brendan D O'FallonInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
John M O'SheaInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
David C PattisonInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Brent S PedersenDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
Brandy J PetersenDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Bennet D PetersonDepartment of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0001-7906-5146
Lucilla PizzoInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Hayley M ReynoldsUniversity of Utah School of Medicine, Salt Lake City, UT, USA.
Paul RindlerInstitute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA.
Carrie B TorrDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Ting WenInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
H Joseph YostMolecular Medicine Program, Department of Pediatrics and Department of Neurobiology, University of Utah, Salt Lake City, UT, USA.
Jian ZhaoInstitute for Research and Innovation, ARUP Laboratories, Salt Lake City, UT, USA.
Mark YandellDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-9497-4505
Gabor T MarthDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0003-0222-1694
Aaron R QuinlanDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
John C CareyDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Brian J ShayotaDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Martin Tristani-Firouzi *Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine, UT, Salt Lake City, USA.
Joshua L Bonkowsky *Center for Personalized Medicine, Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0001-8775-147X

Funding

UNIVERSITY OF UTAH MEDICAL INFORMATICS TRAININGT15LM007124 · NLM · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Karen Louise Eilbeck · 1997 to 2026
$22.0M
CTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9M
Investigating the impact of genetic variation on the ER stress response, protein folding, and diseaseR35GM124780 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Clement Chow · 2017 to 2026
$4.0M
Addressing the research-practice gap in the implementation of rapid whole genome sequencing in the NICUK08HG013111 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Sabrina Malone Jenkins · 2023 to 2026
$1.1M
From genomics to natural language processing: A protected environment for research computing in the health scienceS10OD021644 · OD · UNIVERSITY OF UTAH · PI CHEATHAM, THOMAS E. · 2017 to 2017
$494k
Lustre data storageS10OD034321 · OD · UNIVERSITY OF UTAH · PI HOLT, CARSON HINTON · 2023 to 2023
$354k
NCATS NIH HHS UM1 TR004409NHGRI NIH HHS K08 HG013111NIGMS NIH HHS R35 GM124780NIH HHS S10 OD021644NIH HHS S10 OD034321NLM NIH HHS T15 LM007124
6 · The paper itself

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.

Identifiers

PMID40121231
PMCPMC11929918

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