Evidence map›Paper›PMID 39821137›Full record

ReviewPediatric research2025

Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.

Sabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, Chelsea M Solorzano, Joshua L Bonkowsky, Paul Estabrooks, Martin Tristani-Firouzi

Abstract readReview
In one paragraph

Review in Pediatric research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. 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

7 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.
Rachel PalmquistDivision of Pediatric Neurology, 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.
Chelsea M SolorzanoDivision of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Joshua L BonkowskyDivision of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Paul EstabrooksDepartment of Health and Kinesiology, University of Utah, Salt Lake City, UT, USA.
Martin Tristani-FirouziDivision of Pediatric Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

Funding

CTSA RC2 Program at University of Utah: A Translational Platform for Rapid Genomic MedicineRC2TR004391 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI PAUL ESTABROOKS, MARTIN TRISTANI-FIROUZI · 2023 to 2026
$3.1M
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
NCATS NIH HHS RC2 TR004391NHGRI NIH HHS K08 HG013111
6 · The paper itself

Abstract

The integration of genomic medicine into pediatric clinical practice is a critical need that remains largely unmet, especially in socioeconomically challenged and rural areas where healthcare disparities are most pronounced. This review seeks to summarize the barriers responsible for delayed diagnosis and treatment, and examines diverse care models, technological innovations, and strategies for dissemination and implementation aimed at addressing the evolving genomic needs of pediatric populations. Through a comprehensive review of the literature, we explore proposed methodologies to bridge this gap in pediatric healthcare, with a specific emphasis on understanding and speeding implementation approaches and technologies to mitigate disparities in underserved populations, including rural and marginalized communities. There are both external and internal factors to consider in demographic and social determinants when evaluating patient access. To address these barriers, potential solutions include telegenetic services, alternative care delivery models, pediatric subspecialist expansion, and non-genetic provider education. By improving access to pediatric genomic services, therapeutic interventions will also be more available to all pediatric patients. IMPACT STATEMENT: Genomic testing has clinical utility in pediatric populations but access for people from diverse demographic and social-economic groups is problematic. Understanding barriers responsible for delayed genetic diagnosis and treatment in pediatric populations will improve reach, adoption, implementation, and maintenance of genomic medicine in pediatric healthcare context. Innovative care models, adaptation of appropriate technologies, and strategies aimed at addressing pediatric genomic needs are needed.

Indexed as

GenomicsHealthcare DisparitiesHealth Services AccessibilityPediatricsChildDelivery of Health CareGenetic TestingHumans

Identifiers

PMID39821137
PMCPMC12105983

What OpenQuestion holds

Textmetadata
LicenceTDM
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.