Evidence map›Paper›PMID 41633343›Full record

ArticleJournal of genetic counseling2026

The personal utility of genetic testing in children with epilepsy.

Sneha Gupta, Heather Leduc-Pessah, Nick Barrowman, Anne Tsampalieros, Dennis Newhook, David Dyment, Daniela Pohl

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Sneha GuptaFaculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.ORCID 0009-0006-2523-397X
Heather Leduc-PessahFaculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Nick BarrowmanChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Anne TsampalierosChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Dennis NewhookChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
David DymentFaculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Daniela PohlFaculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing is increasingly utilized in the diagnosis and management of pediatric epilepsy, yet its personal impact on families remains underexplored. This study evaluated the personal utility of genetic testing based on caregiver-reported experiences. Caregivers of 127 patients who underwent multi-gene panel testing between 2013 and 2020 completed an online questionnaire assessing satisfaction, decisional regret, family planning, coping, emotional effects, and open-text feedback. Most participants reported high satisfaction with care (85%), no decisional regret (65%), and strong agreement that testing was the right decision (97%). Caregivers of children with a genetic diagnosis reported better coping and higher certainty compared to those without a diagnosis. Content analysis of participant feedback emphasized the need for more empathetic communication, clearer explanations of test result implications, more consistent follow-up, and improved access to support resources. These findings highlight the personal utility of genetic testing in pediatric epilepsy and underscore the importance of supporting families' diverse experiences throughout the diagnostic process.

Indexed as

EpilepsyGenetic TestingAdolescentAdultChildChild, PreschoolFemaleHumansMaleSurveys and Questionnairesdecisional regretepilepsygenetic testingpersonal utilitysatisfaction

Identifiers

PMID41633343
PMCPMC12867559

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.