Attitudes and practices of Australian nephrologists toward implementation of clinical genomics

Jayasinghe, Kushani, Quinlan, Catherine, Mallett, Andrew, Kerr, Peter G., McClaren, Belinda, Nisselle, Amy, Mallawaarachchi, Amali, Polkinghorne, Kevan R., Patel, Chirag, Best, Stephanie, and Stark, Zornitza (2021) Attitudes and practices of Australian nephrologists toward implementation of clinical genomics. Kidney International Reports, 6 (2). pp. 272-283.

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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.

Item ID: 67848
Item Type: Article (Research - C1)
ISSN: 2468-0249
Keywords: genetic kidney disease; genomic implementation; implementation science
Copyright Information: © 2020 Published by Elsevier, Inc., on behalf of the International Society of Nephrology. This is an open access article under the CC BY-NC-ND license (
Funders: National Health and Medical Research Council Australia
Projects and Grants: NHMRC GNT1113531
Date Deposited: 04 Apr 2022 22:58
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 50%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100%
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