Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Kushani Jayasinghe; Catherine Quinlan; Andrew J Mallett; Peter G Kerr; Belinda McClaren; Amy Nisselle; Amali Mallawaarachchi; Kevan R Polkinghorne; Chirag Patel; Stephanie Best; Zornitza Stark

doi:10.1016/j.ekir.2020.10.030

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Kidney Int Rep. 2020 Nov 10;6(2):272-283. doi: 10.1016/j.ekir.2020.10.030. eCollection 2021 Feb.

Authors

Kushani Jayasinghe^{1

2

3

4}, Catherine Quinlan^{3

4

5

6}, Andrew J Mallett^{4

7

8}, Peter G Kerr^{1

2}, Belinda McClaren^{3

6

9}, Amy Nisselle^{3

6

9}, Amali Mallawaarachchi^{4

10

11}, Kevan R Polkinghorne^{1

2

12}, Chirag Patel^{4

8

9}, Stephanie Best^{9

13}, Zornitza Stark^{4

6

9

14}

Affiliations

¹ Department of Nephrology, Monash Health, Melbourne, Australia.
² Department of Medicine, Monash University, Melbourne, Australia.
³ Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Australia.
⁴ The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.
⁵ Department of Paediatric Nephrology, Royal Children's Hospital, Melbourne, Australia.
⁶ Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
⁷ Kidney Health Service and Conjoint Renal Research Laboratory, Royal Brisbane and Women's Hospital, Brisbane, Australia.
⁸ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Australia.
⁹ Australian Genomics Health Alliance, Melbourne, Australia.
¹⁰ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia.
¹¹ Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, Australia.
¹² Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Prahran, Melbourne, Australia.
¹³ Australian Institute of Health Innovation, Macquarie University, Sydney, Australia.
¹⁴ Victorian Clinical Genetics Services, Melbourne, Australia.

Abstract

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.

Keywords: genetic kidney disease; genomic implementation; implementation science.