Evidence map›Paper›PMID 35037400›Full record

ArticleAmerican journal of medical genetics. Part A2022

Delayed diagnosis and racial bias in children with genetic conditions.

Jacklyn Omorodion, Leah Dowsett, Robin D Clark, Jamie Fraser, Aya Abu-El-Haija, Alanna Strong, Monica H Wojcik, Allison S Bryant, Nina B Gold

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
5.0field-weighted citation impact, top 4% of its field
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

17 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Article
  4. Artificial intelligence in clinical genetics.European journal of human genetics : EJHG · 2025
    Review
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  10. Inherent Bias in Electronic Health Records: A Scoping Review of Sources of Bias.medRxiv : the preprint server for health sciences · 2024
    Article
  11. Article
  12. Article
  13. Article
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  15. Article
  16. Implications of Genomic Newborn Screening for Infant Mortality.International journal of neonatal screening · 2023
    Article
  17. 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

9 authors at 8 institutions in 1 country.

Jacklyn OmorodionBoston Combined Residency Program, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0002-8947-5453
Leah DowsettDepartment of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, Hawai'i, USA.
Robin D ClarkDivision of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, USA.
Jamie FraserDivision of Genetics and Metabolism, Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.
Aya Abu-El-HaijaDivision of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Alanna StrongDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-9261-244X
Monica H WojcikDivision of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Allison S BryantDepartment of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Nina B GoldHarvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0003-0867-722X
Boston Children's Hospital · USBoston University · USChildren's Hospital of Philadelphia · USChildren's National · USHarvard University · USLoma Linda University Medical Center · USMassachusetts General Hospital · USUniversity of Hawaiʻi at Mānoa · US

Funding

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy InfantsU01TR003201 · NCATS · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C., HOLM, INGRID ADELE · 2021 to 2024
$5.1M
NCATS NIH HHS U01 TR003201NIH HHS TR003201
6 · The paper itself

Abstract

As more therapeutics for genetic conditions become available, the need for timely and equitable genetic diagnosis has become urgent. Using clinical cases, we consider the health system-, provider-, and patient-level factors that contribute to the delayed diagnosis of genetic conditions in pediatric patients from minority populations, leading to health disparities between racial groups. We then provide suggestions to address these factors, with the aim of improving minority health and access to genetic care for all children.

Indexed as

RacismChildDelayed DiagnosisHealth Services AccessibilityHumansMinority GroupsMinority HealthRacial GroupsUnited Statesdelayed diagnosishealth disparitiesminority health

Identifiers

PMID35037400
PMCPMC10064482
OpenAlexW4205427813

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.