Evidence map›Paper›PMID 41630935›Full record

ArticlePaediatrics & child health2026

Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study.

Michael P Mackley, Salma Shickh, Whiwon Lee, Abigail Hansen, Katharine Fooks, Lena Dolman, Iskra Peltekova, Taila Hartley, GSO Study Team, Robin Z Hayeems

Abstract read
In one paragraph

Article in Paediatrics & child health, 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

10 authors.

Michael P MackleyDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto.ORCID https://orcid.org/0000-0002-7388-0905
Salma ShickhProgram in Child Health Evaluative Sciences, SickKids Research Institute, Toronto.
Whiwon LeeProgram in Child Health Evaluative Sciences, SickKids Research Institute, Toronto.
Abigail HansenProgram in Child Health Evaluative Sciences, SickKids Research Institute, Toronto.
Katharine FooksProgram in Child Health Evaluative Sciences, SickKids Research Institute, Toronto.
Lena DolmanDepartment of Paediatrics, University of Toronto, Toronto.
Iskra PeltekovaDepartment of Paediatrics, University of Toronto, Toronto.
Taila HartleyChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa.
GSO Study Team
Robin Z HayeemsProgram in Child Health Evaluative Sciences, SickKids Research Institute, Toronto.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists. Enabling paediatric subspecialists to access GS can expedite diagnosis for families and reduce burdens on the geneticist-led model of care. Targeted implementation strategies are needed to empower paediatric subspecialists to access GS; however, data to inform these strategies are lacking. Methods: Semi-structured interviews were conducted with 13 paediatric subspecialists (6 paediatric neurologists, 7 developmental paediatricians) and 9 genetics practitioners in Ontario, Canada, exploring barriers and facilitators to expanding access to GS amongst paediatric subspecialists. Interview guide development was informed by the Consolidated Framework for Implementation Research. Interviews were transcribed verbatim, coded inductively, and analyzed thematically. Results: Facilitators identified by interviewees included a tension for change, clinician motivation, and the presence of analogous infrastructure. The barriers to be addressed included logistical (requiring increased resource investment), cognitive (requiring upskilling and improved support for non-geneticist clinicians from genetics services), and cultural (requiring role clarification and trust-building between groups). Conclusions: To maximize readiness of paediatric subspecialists to access GS, implementation strategies must be designed to capitalize on facilitators and reduce barriers. Evaluation of such models will be essential to ensure they meet the needs of paediatric subspecialist end-users while delivering on the expected value of GS for patients.

Indexed as

clinical geneticsGenetic testinggenomic sequencinggenomic testingmainstreamingpaediatriciansservice delivery models

Identifiers

PMID41630935
PMCPMC12861534

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.