Evidence map›Paper›PMID 39999847›Full record

ArticleAmerican journal of human genetics2025

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.

Tara L Wenger, Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J Buckingham, Colby T Marvin, Kathryn M Shively, Tamara Bacus, Olivia M Sommerland and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

Who cites it

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Rapid genomic sequencing in the NICU: Who to test and why.European journal of human genetics : EJHG · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors.

Tara L WengerDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA.
Abbey ScottSeattle Children's Hospital, Seattle, WA 98105, USA.
Lukas KruidenierSeattle Children's Hospital, Seattle, WA 98105, USA.
Megan SikesSeattle Children's Hospital, Seattle, WA 98105, USA.
Alexandra KeefeDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA.
Kati J BuckinghamDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Colby T MarvinDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Kathryn M ShivelyDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Tamara BacusDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Olivia M SommerlandDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Kailyn AndersonDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Heidi GildersleeveDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Chayna J DavisDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Jamie Love-NicholsSeattle Children's Hospital, Seattle, WA 98105, USA.
Katherine E MacDuffieDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, WA 98121, USA.
Danny E MillerDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Bay Institute, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Joon-Ho YuDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, WA 98121, USA; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.
Amy SnookGeneDx, Gaithersburg, MD 20877, USA.
Britt JohnsonGeneDx, Gaithersburg, MD 20877, USA.
David L VeenstraDepartment of Pharmacy, University of Washington, Seattle, WA 98195, USA.
Julia Parish-MorrisDepartment of Biomedical and Health Informatics, Perelman School of Medicine, Philadelphia, PA 19146, USA.
Kirsty McWalterGeneDx, Gaithersburg, MD 20877, USA.
Kyle RettererGeneDx, Gaithersburg, MD 20877, USA; Geisinger, Danville, PA 17822, USA.
Deborah CopenheaverGeneDx, Gaithersburg, MD 20877, USA.
Bethany FriedmanGeneDx, Gaithersburg, MD 20877, USA.
Jane JuusolaGeneDx, Gaithersburg, MD 20877, USA.
Erin RyanGeneDx, Gaithersburg, MD 20877, USA.
Renee VargaGeneDx, Gaithersburg, MD 20877, USA.
Daniel A DohertyDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Bay Institute, Seattle, WA 98195, USA.
Katrina DippleDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA.
Jessica X ChongDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Bay Institute, Seattle, WA 98195, USA.
Paul KruszkaGeneDx, Gaithersburg, MD 20877, USA.
Michael J BamshadDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Bay Institute, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Funding

University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
University of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8M
NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG006493
6 · The paper itself

Abstract

Access to a precise genetic diagnosis (PrGD) in critically ill newborns is limited and inequitable because the complex inclusion criteria used to prioritize testing eligibility omit many patients at high risk for a genetic condition. SeqFirst-neo is a program to test whether a genotype-driven workflow using simple, broad exclusion criteria to assess eligibility for rapid genome sequencing (rGS) increases access to a PrGD in critically ill newborns. All 408 newborns admitted to a neonatal intensive care unit between January 2021 and February 2022 were assessed, and of 240 eligible infants, 126 were offered rGS (i.e., intervention group [IG]) and compared to 114 infants who received conventional care in parallel (i.e., conventional care group [CCG]). A PrGD was made in 62/126 (49.2%) IG neonates compared to 11/114 (9.7%) CCG infants. The odds of receiving a PrGD were ∼9 times greater in the IG vs. the CCG, and this difference was maintained at 12 months follow-up. Access to a PrGD in the IG vs. CCG differed significantly between infants identified as non-White (34/74, 45.9% vs. 6/29, 20.7%; p = 0.024) and Black (8/10, 80.0% vs. 0/4; p = 0.015). Neonatologists were significantly less successful at predicting a PrGD in non-White than non-Hispanic White infants. The use of a standard workflow in the IG with a PrGD revealed that a PrGD would have been missed in 26/62 (42%) infants. The use of simple, broad exclusion criteria that increase access to genetic testing significantly increases access to a PrGD, improves access equity, and results in fewer missed diagnoses.

Indexed as

Critical IllnessGenetic TestingHealth Services AccessibilityFemaleGenotypeHumansInfant, NewbornIntensive Care Units, NeonatalMaleequitygenetic diagnosishealth disparityrapid whole-genome sequencingrare disease

Identifiers

PMID39999847
PMCPMC11947171

What OpenQuestion holds

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LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.