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Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics


Introduction: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology. Methods: 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. 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 pediatric clinicians feeling more confident compared with adult clinicians (12 of 20 [60%] vs. 27 of 149 [18%]), P < 0.01, Fisher exact). A multidisciplinary renal genetics clinic was the preferred model among clinicians surveyed (98 of 172 [57%]). A key implementation barrier highlighted related to the hospital or organizational culture and/or environment. Specific barriers noted in quantitative and qualitative responses included inadequate staffing, 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 counselor). Broad-ranging interventions are urgently required to shift the current culture and ensure successful implementation of genomics in nephrology, including reducing knowledge gaps, increased funding and resources, disease-specific guidelines, and streamlining of testing processes.

Type Journal
ISBN 2468-0249 (Electronic) 2468-0249 (Linking)
Authors Jayasinghe, K.; Quinlan, C.; Mallett, A. J.; Kerr, P. G.; McClaren, B.; Nisselle, A.; Mallawaarachchi, A.; Polkinghorne, K. R.; Patel, C.; Best, S.; Stark, Z.
Responsible Garvan Author Dr Amali Mallawaarachchi
Publisher Name Kidney International Reports
Published Date 2021-02-28
Published Volume 6
Published Issue 2
Published Pages 272-283
Status Published in-print
DOI 10.1016/j.ekir.2020.10.030
URL link to publisher's version