Abstract
OBJECTIVES: Genomic sequencing (GS) is increasingly recommended as a diagnostic test for patients with suspected genetic disorders, but access often remains limited to those referred to medical geneticists. Enabling paediatric subspecialists to access GS can expedite diagnosis for families and reduce burdens on the geneticist-led model of care. Targeted implementation strategies are needed to empower paediatric subspecialists to access GS; however, data to inform these strategies are lacking. METHODS: Semi-structured interviews were conducted with 13 paediatric subspecialists (6 paediatric neurologists, 7 developmental paediatricians) and 9 genetics practitioners in Ontario, Canada, exploring barriers and facilitators to expanding access to GS amongst paediatric subspecialists. Interview guide development was informed by the Consolidated Framework for Implementation Research. Interviews were transcribed verbatim, coded inductively, and analyzed thematically. RESULTS: Facilitators identified by interviewees included a tension for change, clinician motivation, and the presence of analogous infrastructure. The barriers to be addressed included logistical (requiring increased resource investment), cognitive (requiring upskilling and improved support for non-geneticist clinicians from genetics services), and cultural (requiring role clarification and trust-building between groups). CONCLUSIONS: To maximize readiness of paediatric subspecialists to access GS, implementation strategies must be designed to capitalize on facilitators and reduce barriers. Evaluation of such models will be essential to ensure they meet the needs of paediatric subspecialist end-users while delivering on the expected value of GS for patients.