Opportunities and challenges for paediatricians requesting funded genomic tests for children

Abstract

Genomic diagnosis for children with childhood syndromes can inform treatment, management and reproductive planning. Shortages in the clinical genetics workforce mean that practices are changing, with paediatricians likely requesting initial genomic investigations and clinical genetics services reserved for particularly complex cases or post-test genetic counselling. In Australia, paediatricians can request funded genomic testing for patients, yet ordering rates are less than a quarter predicted. Using a theory-informed approach, we aimed to understand barriers and enablers to general paediatricians’ practice as the essential first step in developing complex interventions to support clinical practice. Maximum variation sampling was used to invite general paediatricians to complete a semi-structured interview. The interview guide used a process map of the steps involved in ordering funded genomic tests, with questions addressing the components of the Capability, Opportunity, Motivation – Behaviour (COM-B) model and the Theoretical Domains Framework. Twenty-six general paediatricians with diverse practice experience participated. Paediatricians described barriers related to capability, opportunity and motivation. Intuitive strategies general paediatricians suggested to overcome barriers aligned with theoretical strategies to implement practice change. These included: raising awareness using avenues paediatricians already access for clinical information; providing opportunities for experiential learning to build on foundational knowledge; having practical resources in one easily accessible location; family-friendly information materials to share with patients. This study provides evidence to inform a roadmap of strategies to effectively support general paediatricians in incorporating genomics into their practice and ultimately delivering faster, more equitable genomic medicine.