Evidence map›Paper›PMID 41263136›Full record

ArticleJournal of paediatrics and child health2026

Exomes in Paediatrics: Co-Design and Implementation of Interventions to Support Paediatricians to Provide Genomic Care.

Belinda Dawson-McClaren, Melissa Martyn, Emma Weisz, Rigan Tytherleigh, Justine Elliott, Heather Renton, Natasha J Brown, Michael Fahey, Clara Gaff

Abstract read
In one paragraph

Article in Journal of paediatrics and child health, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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.

Belinda Dawson-McClarenMurdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0002-1372-8258
Melissa MartynMurdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0001-5263-4329
Emma WeiszMurdoch Children's Research Institute, Melbourne, Victoria, Australia.
Rigan TytherleighMurdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID https://orcid.org/0009-0006-5595-1753
Justine ElliottVictorian Clinical Genetics Service, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0002-5077-8107
Heather RentonSyndromes Without A Name (SWAN), Melbourne, Victoria, Australia.ORCID https://orcid.org/0009-0001-1096-1505
Natasha J BrownMurdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0002-1822-9191
Michael FaheyMonash Children's Hospital, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0003-0811-4785
Clara GaffMurdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0003-0160-4159

Funding

Melbourne Genomics Health AllianceState Government of Victoria (Department of Health and Human Services)Victorian Government's Operational Infrastructure Support Program
6 · The paper itself

Abstract

backgroundDespite the potential benefits of genomic testing for children with unique body features and/or developmental differences, these tests are underutilised by paediatricians.

aimTo co-design, implement and evaluate interventions to support paediatricians in overcoming barriers to requesting funded genomic tests.

methodsA mixed-methods approach was taken. Co-design workshops with paediatricians, parents and genetic health professionals informed the development of multi-modal interventions. Evaluation, guided by the RE-AIM framework: data were surveys, website analytics, test request audits and interviews.

resultsThe multi-modal intervention was a website, genetic expert consultation service and teaching clinic. Implementation of the intervention was supported by awareness-raising activities. Evaluation showed the website was accessed by 222 paediatricians in the first 12 months. Survey responses (T1, 1-month post-access: 11/218, 5%; T2, 3-months post-access: 14/218, 6%) indicated that confidence in knowledge-based areas increased and remained elevated 3 months after website access; skill-based confidence was also elevated but not sustained. The genetic expert consultation service, though accessed less than anticipated, provided valued support. The teaching clinic in metropolitan Melbourne offered experiential learning opportunities aimed at skill development. The clinic had 62 appointments with 39 patients. Thirteen paediatricians attended the clinic for experiential learning and 9 set learning goals. During the intervention period, requests for funded genomic tests by paediatricians increased by 227% compared to pre-intervention. Qualitative data (interviews with 12 paediatricians and 4 genetic experts) revealed paediatricians gained practical skills and confidence to assess child eligibility, discuss testing with parents and complete test requests.

conclusionsThe interventions helped increase paediatrician confidence and skills, highlighting the importance of combining knowledge transfer with experiential learning to support comprehensive practice change. These results offer a foundation for ongoing efforts to support wider, more equitable use of genomic tests. Long-term evaluation would further assess the impact on paediatrician practice. The study demonstrates the value of co-designed, multi-modal interventions in addressing complex practice changes in healthcare.

Indexed as

Genetic TestingGenomicsPediatriciansPediatricsAustraliaChildFemaleHumansMaleSurveys and Questionnairesco‐designevaluationgenomicsinterventionpaediatricians

Identifiers

PMID41263136
PMCPMC12800879

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.