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

ABSTRACT:

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 s

SUBMITTER: Dawson-McClaren B 

PROVIDER: S-EPMC12800879 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature