Evidence map›Paper›PMID 40335663›Full record

ArticleEuropean journal of human genetics : EJHG2025

Opportunities and challenges for paediatricians requesting funded genomic tests for children.

Belinda Dawson-McClaren, Melissa Martyn, Jessica Ince, Alli Jan, Natasha J Brown, Michael C Fahey, Erin Crellin, Clara Gaff

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. What's new in EJHG this autumn.European journal of human genetics : EJHG · 2025
    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

8 authors.

Belinda Dawson-McClarenMelbourne Genomics Health Alliance, Melbourne, VIC, Australia. Belinda.mcclaren@unimelb.edu.au.ORCID 0000-0002-1372-8258
Melissa MartynMelbourne Genomics Health Alliance, Melbourne, VIC, Australia.ORCID 0000-0001-5263-4329
Jessica InceMelbourne Genomics Health Alliance, Melbourne, VIC, Australia.
Alli JanMelbourne Genomics Health Alliance, Melbourne, VIC, Australia.ORCID 0000-0002-9854-2224
Natasha J BrownMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Michael C FaheyDepartment of Paediatrics Monash University, Melbourne, VIC, Australia.
Erin CrellinMelbourne Genomics Health Alliance, Melbourne, VIC, Australia.ORCID 0000-0002-6583-3922
Clara GaffMelbourne Genomics Health Alliance, Melbourne, VIC, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genomic diagnosis for children with childhood syndromes can inform treatment, management and reproductive planning. Shortages in the clinical genetics workforce mean that practices are changing, with paediatricians likely requesting initial genomic investigations and clinical genetics services reserved for particularly complex cases or post-test genetic counselling. In Australia, paediatricians can request funded genomic testing for patients, yet ordering rates are less than a quarter predicted. Using a theory-informed approach, we aimed to understand barriers and enablers to general paediatricians' practice as the essential first step in developing complex interventions to support clinical practice. Maximum variation sampling was used to invite general paediatricians to complete a semi-structured interview. The interview guide used a process map of the steps involved in ordering funded genomic tests, with questions addressing the components of the Capability, Opportunity, Motivation - Behaviour (COM-B) model and the Theoretical Domains Framework. Twenty-six general paediatricians with diverse practice experience participated. Paediatricians described barriers related to capability, opportunity and motivation. Intuitive strategies general paediatricians suggested to overcome barriers aligned with theoretical strategies to implement practice change. These included: raising awareness using avenues paediatricians already access for clinical information; providing opportunities for experiential learning to build on foundational knowledge; having practical resources in one easily accessible location; family-friendly information materials to share with patients. This study provides evidence to inform a roadmap of strategies to effectively support general paediatricians in incorporating genomics into their practice and ultimately delivering faster, more equitable genomic medicine.

Indexed as

Genetic TestingGenomicsPediatriciansPediatricsAdultAustraliaChildFemaleGenetic CounselingHumansMale

Identifiers

PMID40335663
PMCPMC12402192

What OpenQuestion holds

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LicenceCC BY
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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.