ArticleEuropean journal of human genetics : EJHG2025
Opportunities and challenges for paediatricians requesting funded genomic tests for children.
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.
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Who cites it
7 citing papers in PubMed.
- What influenced the use of embedded genetic expertise by non-genetic clinicians: a qualitative study using the diffusion of innovations theory and theoretical domains framework.Implementation science communications · 2026Article
- Mainstreaming genomic testing for mitochondrial disease in Australia.European journal of human genetics : EJHG · 2026Article
- Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study.Paediatrics & child health · 2026Article
- Exomes in Paediatrics: Co-Design and Implementation of Interventions to Support Paediatricians to Provide Genomic Care.Journal of paediatrics and child health · 2026Article
- Relational work in implementation: a qualitative analysis of intra- and inter- professional strategies leveraged in genomic multidisciplinary teams.Implementation science communications · 2025Article
- From tradition to transformation: evolving models of care in clinical genetics.Current opinion in pediatrics · 2025Review
- What's new in EJHG this autumn.European journal of human genetics : EJHG · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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