Attitudes and practices of Australian nephrologists towards implementation of clinical genomics.

Abstract

Aim: An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Background(s): Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology. Method(s): Survey questions were guided by a comprehensive literature review and published tools, including a validated theoretical framework for implementation of genomic medicine: Consolidated Framework for Implementation Research (CFIR). Result(s): Responses were received from 224 clinicians, of which 172 were eligible for analysis. Most clinicians (132[76%]) had referred at least one patient to a genetics clinic. Despite most clinicians (136[85%]) indicating that they believed genetic testing would be useful, only 39 (23%) indicated they felt confident to use results of genomic testing, with paediatric clinicians feeling more confident compared to adult clinicians (12/20 [60%] versus 27/149[18%]), p < 0.001. A multidisciplinary renal genetics clinic was the preferred model among clinicians surveyed (98/172 [57%]). A key implementation barrier highlighted related to the hospital or working culture and/or environment. Specific barriers noted in quantitative and qualitative responses included inadequate staff, learning resources, and funding. Conclusion(s): Our findings suggest support for genomic testing among nephrologists, with a strong preference for a multidisciplinary model (involving a nephrologist, clinical geneticist, and genetic counsellor). Interventions aimed at addressing the working culture are urgently required to ensure successful implementation of genomic in nephrology, including improving knowledge gaps, increased funding and resources, disease-specific guidelines and streamlining of testing processes.