Evidence map›Paper›PMID 39579980›Full record

ArticleThe journal of allergy and clinical immunology. In practice2025

Disparities in Genetic Testing for Inborn Errors of Immunity.

Karen M Gilbert, Heather M McLaughlin, Jocelyn R Farmer, Mei-Sing Ong

Abstract read
In one paragraph

Article in The journal of allergy and clinical immunology. In practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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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

Who cites it

4 citing papers in PubMed.

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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

4 authors.

Karen M GilbertDepartment of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Mass. Electronic address: karenmgilbert@gmail.com.
Heather M McLaughlinPharming Healthcare, Inc, Department of Medical Affairs, Warren, NJ.
Jocelyn R FarmerClinical Immunodeficiency Program of Beth Israel Lahey Health, Division of Allergy and Immunology, Lahey Hospital and Medical Center, Burlington, Mass.
Mei-Sing OngDepartment of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, Mass.

Funding

Underdiagnosis of primary immunodeficiency disorders: Recognize and EducateR01MD017816 · NIMHD · HARVARD PILGRIM HEALTH CARE, INC. · PI Jocelyn R Farmer, Mei-Sing Ong · 2022 to 2026
$3.2M
NIMHD NIH HHS R01 MD017816
6 · The paper itself

Abstract

backgroundInequities in genetic testing have been documented in a range of diseases, and no-charge genetic testing programs have been proposed as a means to enhance access. However, no studies have examined disparities in genetic testing for inborn errors of immunity (IEI) and the impact of no-charge programs on testing equity.

objectiveTo examine socioeconomic, geographic, and racial disparities in the uptake of genetic testing for IEI in the United States and the impact of a no-charge sponsored program on testing equity.

methodsThis was a retrospective cohort analysis of (1) a national claims database capturing individuals with IEI (n = 18,603), and (2) data from a clinical genetic testing laboratory capturing patients with IEI participating in a no-charge sponsored program (n = 6,681) and a non-sponsored program (n = 29,579) for IEI genetic testing.

resultsAmong patients with IEI captured in the claims database, those residing in areas of greater deprivation (odds ratio [OR] = 0.95; 95% CI, 0.92-0.98), rural areas (OR = 0.82; 95% CI, 0.71-0.96), and non-White neighborhoods (OR = 0.89, 95% CI 0.81-0.98) were less likely to undergo genetic testing. Participants in the sponsored IEI genetic testing program lived in areas of greater deprivation compared with the non-sponsored program (median, 46 vs 42; P < .001). However, historically excluded racial groups were underrepresented in both the sponsored and non-sponsored programs relative to disease burden.

conclusionsWe found significant disparities in genetic testing for IEI. Although eliminating the financial barriers to testing reduced socioeconomic disparities in genetic testing for IEI, racial disparities persisted. Further research is needed to address barriers to testing among underserved populations.

Indexed as

Genetic TestingHealthcare DisparitiesAdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleMiddle AgedRetrospective StudiesSocioeconomic FactorsUnited StatesYoung AdultDisparitiesGenetic testingInborn errors of immunityNo-charge programPrimary immunodeficiency

Identifiers

PMID39579980
PMCPMC11807750

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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.