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Updated: May 12, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Opportunities and challenges for paediatricians requesting funded genomic tests for children
Belinda Dawson-McClaren1,2,3, Melissa Martyn4,5,6, Jessica Ince4,5
1Melbourne Genomics Health Alliance, Melbourne, VIC, Australia. Belinda.mcclaren@unimelb.edu.au.
Insights
Genomic testing for children with rare diseases is underutilized by paediatricians due to capability, opportunity, and motivation barriers. Strategies like improved education and accessible resources can enhance genomic medicine adoption.
Area of Science:
- Medical Genetics
- Paediatric Medicine
- Health Services Research
Background:
- Genomic diagnosis is crucial for children with rare syndromes, guiding treatment and family planning.
- Clinical genetics workforce shortages necessitate a shift towards paediatricians initiating genomic investigations.
- Despite availability, Australian paediatricians order funded genomic tests at rates below predictions.
Purpose of the Study:
- To identify barriers and enablers for general paediatricians ordering genomic tests.
- To inform the development of interventions supporting genomic medicine integration.
- To understand paediatrician perspectives using the COM-B model and Theoretical Domains Framework.
Main Methods:
- A theory-informed approach using semi-structured interviews with 26 general paediatricians.
- Utilized maximum variation sampling for diverse participant representation.
- Interview guide based on a process map of genomic test ordering, incorporating COM-B and TDF.
Main Results:
- Paediatricians reported barriers across capability, opportunity, and motivation domains.
- Identified practical strategies aligned with theoretical behaviour change models.
- Suggested improvements include enhanced awareness, experiential learning, accessible resources, and patient materials.
Conclusions:
- Addressing identified barriers is key to increasing genomic test ordering by paediatricians.
- Implementing targeted strategies can support paediatricians in integrating genomics into practice.
- This research provides a roadmap for equitable and timely genomic medicine delivery.
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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