Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Kushani Jayasinghe^{1

2

3

4}, Erik Biros^{3

5

6}, Trudie Harris^{3

6}, Alasdair Wood³, Rosie O'Shea³, Lauren Hill³, Lindsay Fowles⁷, Louise Wardrop³, Carolyn Shalhoub^{8

9}, Deirdre Hahn¹⁰, Gopala Rangan^{11

12}, Lucy Kevin¹⁰, Michel Tchan¹¹, Paul Snelling¹³, Rhiannon Sandow¹³, Madhivan Sundaram¹⁴, Swasti Chaturvedi¹⁴, Peter Trnka¹⁵, Randall Faull¹⁶, Nicola K Poplawski^{16

17}, Vanessa Huntley¹⁶, Denisse Garza¹⁸, Mathew Wallis¹⁸, Matthew Jose¹⁸, Anna Leaver¹⁹, Alison H Trainer^{20

21

22}, Ella J Wilkins^{3

4

23

24}, Sue White²³, Yoni Elbaum²³, Yael Prawer^{25

26

27}, Emma Krzesinski^{25

26

27}, Giulia Valente¹⁹, Ingrid Winship²⁰, Jessica Ryan²⁵, John Whitlam¹⁹, Kathy Nicholls²⁰, Kirsty West²⁰, Liz Donaldson²⁰, Lilian Johnstone^{25

28}, Miranda Lewit-Mendes²⁵, Peter G Kerr²⁵, Simon Bodek¹⁹, Aron Chakera²⁹, Mandi MacShane²⁹, Christine Mincham³⁰, Elaine Stackpoole^{29

30

31}, Francis Willis³⁰, Jacqueline Soraru³¹, Nick Pachter³¹, Bruce Bennetts^{32

33}, Thomas A Forbes^{4

24

34

35}, Amali Mallawaarachchi^{4

36

37}, Catherine Quinlan^{4

24

34

35

38}, Chirag Patel^{4

39}, Hugh McCarthy^{40

41

42}, Illias Goranitis^{3

43

44}, Stephanie Best^{3

21

45

46}, Stephen Alexander^{40

42}, Zornitza Stark^{4

24

47}, Andrew J Mallett^{3

4

5

6

48

49}

Affiliations

¹ Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia.
² School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.
³ Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
⁴ The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
⁵ College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.
⁶ Townsville University Hospital, Townsville, Queensland, Australia.
⁷ Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁸ Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
⁹ School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Sydney, New South Wales, Australia.
¹⁰ The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
¹¹ Westmead Hospital, Sydney, New South Wales, Australia.
¹² Michael Stern Laboratory for Polycystic Kidney Disease, Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
¹³ The Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
¹⁴ Royal Darwin Hospital, Darwin, Northern Territory, Australia.
¹⁵ Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹⁶ Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁷ Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁸ Royal Hobart Hospital, Hobart, Tasmania, Australia.
¹⁹ Austin Hospital, Melbourne, Victoria, Australia.
²⁰ Royal Melbourne Hospital, Melbourne, Victoria, Australia.
²¹ Department of Oncology, Sir Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia.
²² Department of Medicine, University of Melbourne, Victoria, Australia.
²³ Royal Children's Hospital, Melbourne, Victoria, Australia.
²⁴ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
²⁵ Monash Health, Melbourne, Victoria, Australia.
²⁶ Monash Genetics, Monash Health, Melbourne, Victoria, Australia.
²⁷ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
²⁸ Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
²⁹ Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
³⁰ Perth Children's Hospital, Perth, Western Australia, Australia.
³¹ Fiona Stanley Hospital Perth, Western Australia, Australia.
³² Department of Molecular Genetics, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
³³ Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
³⁴ Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.
³⁵ Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
³⁶ Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
³⁷ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
³⁸ Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia.
³⁹ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴⁰ Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴¹ Department of Nephrology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴² Department of Nephrology, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
⁴³ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
⁴⁴ Australian Genomics, Melbourne, Victoria, Australia.
⁴⁵ Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
⁴⁶ Victorian Comprehensive Cancer Centre Alliance, Melbourne, Victoria, Australia.
⁴⁷ Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
⁴⁸ Kidney Health Service, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴⁹ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

PMID: 39156154
PMCID: PMC11328548
DOI: 10.1016/j.ekir.2024.04.068

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Kushani Jayasinghe et al. Kidney Int Rep. 2024.

. 2024 May 9;9(8):2372-2385.

doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug.

Authors

Affiliations

¹ Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia.
² School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.
³ Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
⁴ The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
⁵ College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.
⁶ Townsville University Hospital, Townsville, Queensland, Australia.
⁷ Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁸ Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
⁹ School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Sydney, New South Wales, Australia.
¹⁰ The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
¹¹ Westmead Hospital, Sydney, New South Wales, Australia.
¹² Michael Stern Laboratory for Polycystic Kidney Disease, Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
¹³ The Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
¹⁴ Royal Darwin Hospital, Darwin, Northern Territory, Australia.
¹⁵ Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹⁶ Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁷ Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁸ Royal Hobart Hospital, Hobart, Tasmania, Australia.
¹⁹ Austin Hospital, Melbourne, Victoria, Australia.
²⁰ Royal Melbourne Hospital, Melbourne, Victoria, Australia.
²¹ Department of Oncology, Sir Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia.
²² Department of Medicine, University of Melbourne, Victoria, Australia.
²³ Royal Children's Hospital, Melbourne, Victoria, Australia.
²⁴ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
²⁵ Monash Health, Melbourne, Victoria, Australia.
²⁶ Monash Genetics, Monash Health, Melbourne, Victoria, Australia.
²⁷ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
²⁸ Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
²⁹ Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
³⁰ Perth Children's Hospital, Perth, Western Australia, Australia.
³¹ Fiona Stanley Hospital Perth, Western Australia, Australia.
³² Department of Molecular Genetics, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
³³ Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
³⁴ Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.
³⁵ Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
³⁶ Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
³⁷ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
³⁸ Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia.
³⁹ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴⁰ Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴¹ Department of Nephrology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴² Department of Nephrology, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
⁴³ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
⁴⁴ Australian Genomics, Melbourne, Victoria, Australia.
⁴⁵ Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
⁴⁶ Victorian Comprehensive Cancer Centre Alliance, Melbourne, Victoria, Australia.
⁴⁷ Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
⁴⁸ Kidney Health Service, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴⁹ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

PMID: 39156154
PMCID: PMC11328548
DOI: 10.1016/j.ekir.2024.04.068

Abstract

Introduction: Diagnostic genomic sequencing is the emerging standard of care in nephrology. There is a growing need to scale up the implementation of genomic diagnostics nationally to improve patient outcomes.

Methods: This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics (KGCs). We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022.

Results: We successfully established and expanded a nationwide network of 20 clinics as of 2022; concurrently developing laboratory, research, and education programs to scale the clinical application of genomics in nephrology. We report on an Australian cohort of 1506 kidney patients, of whom 1322 received their test results. We assessed barriers to implementation in the nephrology context, and where possible, applied real-time solutions to improve clinical processes over 10 years.

Conclusion: Developing a multidisciplinary kidney genetics model across multiple health services nationally was highly successful. This model supported optimal care of individuals with monogenic kidney disease in an economically responsible way. It has continued to evolve with technological and service developments and is now set to scale further as genomic testing for kidney patients transitions to health care system funding.

Keywords: genomic testing; implementation; kidney disease.

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Figures

**Figure 1**
Recruitment of the KidGen national cohort for genomic testing. Two participant nonoverlapping retrospective and prospective cohorts were recruited between 2013 and 2022, creating the KidGen national cohort. The dashed rectangle depicts the number of patients who withdrew and were excluded from the study. Carrier, an individual with an allele predisposing to disease; MDT, multidisciplinary team; VUS, a variant of uncertain significance; VUS×, VUS with suspected clinical relevance.

**Figure 2**
Genes with pathogenic/likely pathogenic variants in the national KidGen cohort. The genes are stratified by clinical diagnosis, with the width of the cut-outs indicating the number of times each gene appears. All genes are listed in Supplementary Table S2.

**Figure 3**
Visualizing the theory of change for the Australian MD-KGC model. The model is built upon 3 successive pillars: capacity, care, and patients. By addressing these areas through the MD-KGC approach, positive changes can be made in the clinical management of genetic kidney diseases. An essential aspect involves the implementation of test results by clinicians to guide patient care (actioning of results). MD-KGC, multidisciplinary kidney genetic clinic.

See this image and copyright information in PMC

References

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Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Affiliations

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Authors

Affiliations

Abstract

Figures

References

LinkOut - more resources

Full Text Sources