A new study shows why evidence and funding aren’t enough to change practice. Doctors need targeted support to bring genomics into patient care – but they’ve identified practical strategies to make this happen.
Genomics can be game-changing in the care of children with a range of conditions. Used early enough, it can diagnose a condition, predict its progress, prevent the child from having to endure invasive tests or take ineffective medications, and even pinpoint treatments most likely to make a difference.
The evidence is compelling enough for the Medicare Benefits Scheme to fund whole exome testing for children with suspected genetic conditions.
Yet four years later, paediatricians are ordering genomic tests at less than a quarter of the rate predicted. So what’s holding them back?
A new Melbourne Genomics study interviewed 26 paediatricians to understand opportunities and potential barriers to using genomics in patient care, and identify strategies to support practice.
Lead author A/Prof Belinda Dawson-McClaren is from the Murdoch Children’s Research Institute. “We know paediatricians are incredibly busy, often managing high patient loads and complex cases,” she says. “So we wanted to find out what could make it easier for them to start using a new type of test with their patients.”
Barriers to using genomic testing in patient care
Paediatricians identified a range of practical barriers relating to capability, opportunity and motivation.
Capability
- Cognitive overload when having to recall highly specific criteria for testing and eligibility
- Procedural knowledge of how to find and complete complex order forms
- Limited confidence in talking to families about genomic testing and consent
Opportunity
- Not knowing how to consult with a clinical geneticist to organise genomic testing
- Standard appointment times feel too short to cover genomic testing discussions
Motivation
- Sense of genomics being outside their comfort zone
- Limited confidence in identifying eligibility criteria such as facial dysmorphology
- Belief (based on other types of genetic testing) that results will have low impact on care
As A/Prof Dawson-McClaren explains, these findings are good news. “The barriers identified are readily addressed. Paediatricians recommended practical strategies to remove or reduce them."
What can help paediatricians to use genomic testing?
- Giving education through avenues doctors already use for professional development
- Providing experiential learning (seeing how it is done) to build on what they know
- Putting practical resources in one easy-to-find place
- Providing consumer-friendly information to share with families
Insights from this study have informed a suite of interventions, including the Genomics for Paediatricians website and a paediatric exome clinic. Their impact will be documented in a future paper.
Reference: Dawson-McClaren, B., Martyn, M., Ince, J. et al. Opportunities and challenges for paediatricians requesting funded genomic tests for children. Eur J Hum Genet (2025). https://doi.org/10.1038/s41431-025-01864-3