Evidence map›Paper›PMID 42643290›Full record

ArticleGenetics in medicine open2026

Socioeconomic and clinical factors associated with genetic testing completion in Stargardt disease.

Dorothy T Wang, Bani Antonio-Aguirre, Annabelle Pan, Maria Ludovica Ruggeri, Setu P Mehta, Christy H Smith, Kelsey S Guthrie, Carolyn Applegate, Jefferson J Doyle, Mandeep S Singh

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Dorothy T WangJohns Hopkins University School of Medicine, Baltimore, MD.
Bani Antonio-AguirreWilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD.
Annabelle PanJohns Hopkins University School of Medicine, Baltimore, MD.
Maria Ludovica RuggeriWilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD.
Setu P MehtaJohns Hopkins University School of Medicine, Baltimore, MD.
Christy H SmithMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.
Kelsey S GuthrieMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.
Carolyn ApplegateMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD.
Jefferson J DoyleWilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD.
Mandeep S SinghWilmer Eye Institute, Johns Hopkins Hospital, Baltimore, MD.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Genetic testing (GT) is crucial for Stargardt disease (STGD) diagnosis and clinical trial (CT) eligibility; however, predictors of GT completion remain understudied. We identified factors associated with GT completion and characterized CT participation among genetically confirmed patients. Methods: We retrospectively reviewed 280 patients with clinically diagnosed STGD who were evaluated at a US tertiary referral center (2003-2024). Multivariable logistic regression was used to identify predictors of GT completion. Results: Among 280 participants, 246 (88%) completed GT. GT completion was significantly less likely in participants who were Black (odds ratio [OR]: 0.40, 95% CI: 0.16-0.98), under/uninsured (OR: 0.47, 95% CI: 0.19-0.97), without genetic counseling (GC) (OR: 0.09, 95% CI: 0.03-0.22), or without reproductive plans (OR: 0.35, 95% CI: 0.14-0.89). Clinical factors (eg, age of onset, visual acuity, and family history) showed no significant associations. Common reasons for noncompletion included loss to follow-up (41%), patient refusal (26%), and awaiting GC (24%). Among 223 Conclusion: Despite high overall GT completion rates, significant racial and socioeconomic disparities exist. GC emerged as the strongest modifiable factor, conferring over 10-fold higher odds of GT completion. Socioeconomic barriers drive testing disparities in STGD, rather than disease severity or clinical characteristics.

Indexed as

ABCA4Clinical trial recruitmentGenetic counselingGenetic eye diseaseHealth disparities

Identifiers

PMID42643290
PMCPMC13503094

What OpenQuestion holds

Textmetadata
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.