Exomes in Paediatrics: Co‐Design and Implementation of Interventions to Support Paediatricians to Provide Genomic Care

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BACKGROUND: Despite the potential benefits of genomic testing for children with unique body features and/or developmental differences, these tests are underutilised by paediatricians. AIM: To co-design, implement and evaluate interventions to support paediatricians in overcoming barriers to requesting funded genomic tests. METHODS: A mixed-methods approach was taken. Co-design workshops with paediatricians, parents and genetic health professionals informed the development of multi-modal interventions. Evaluation, guided by the RE-AIM framework: data were surveys, website analytics, test request audits and interviews. RESULTS: The multi-modal intervention was a website, genetic expert consultation service and teaching clinic. Implementation of the intervention was supported by awareness-raising activities. Evaluation showed the website was accessed by 222 paediatricians in the first 12 months. Survey responses (T1, 1-month post-access: 11/218, 5%; T2, 3-months post-access: 14/218, 6%) indicated that confidence in knowledge-based areas increased and remained elevated 3 months after website access; skill-based confidence was also elevated but not sustained. The genetic expert consultation service, though accessed less than anticipated, provided valued support. The teaching clinic in metropolitan Melbourne offered experiential learning opportunities aimed at skill development. The clinic had 62 appointments with 39 patients. Thirteen paediatricians attended the clinic for experiential learning and 9 set learning goals. During the intervention period, requests for funded genomic tests by paediatricians increased by 227% compared to pre-intervention. Qualitative data (interviews with 12 paediatricians and 4 genetic experts) revealed paediatricians gained practical skills and confidence to assess child eligibility, discuss testing with parents and complete test requests. CONCLUSIONS: The interventions helped increase paediatrician confidence and skills, highlighting the importance of combining knowledge transfer with experiential learning to support comprehensive practice change. These results offer a foundation for ongoing efforts to support wider, more equitable use of genomic tests. Long-term evaluation would further assess the impact on paediatrician practice. The study demonstrates the value of co-designed, multi-modal interventions in addressing complex practice changes in healthcare.

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