K JAYASINGHE1,2,3,11, C QUINLAN3,7,11, A MALLETT5,6,11, P KERR1,2, B MCCLAREN3,5,8, A NISSELLE3,5,8, A MALLAWAARACHCHI10,11, K POLKINGHORNE1,2, C PATEL6,11, S BEST5,9, Z STARK3,4,5,11
1Monash Health, Clayton, Australia, 2Monash University, Clayton, Australia, 3Murdoch Children’s Research Institute, , Australia, 4Victorian Clinical Genetics Services, Parkville, Australia, 5Australian Genomics Health Alliance, , Australia, 6Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 7Department of Paediatric Nephrology, Royal Children’s Hospital, Parkville, Australia, 8The University of Melbourne, Parkville, Australia, 9Macquarie University, , Australia, 10Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia, 11KidGen Collaborative, Australian Genomics Health Alliance, , Australia
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: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology.
Methods: 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).
Results: 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.
Conclusions: 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.
Dr Kushani Jayasinghe is an adult nephrologist based at Monash Health with an interest in genetic kidney disease. Her PhD studies through Monash University focuses on the clinical utility and feasibility of genomic sequencing in patients with suspected genetic kidney disease.