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.