. 2024 Aug 17;18(1):88.

doi: 10.1186/s40246-024-00656-y.

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

Amali Mallawaarachchi^#^{1

2

3}, Erik Biros^#^{1

4

5

6}, Trudie Harris^{1

4

6}, Bruce Bennetts^{7

8}, Tiffany Boughtwood^{4

9}, Justine Elliott¹⁰, Lindsay Fowles¹¹, Robert Gardos¹², Denisse Garza¹³, Ilias Goranitis^{4

14

9}, Matilda Haas^{4

9}, Vanessa Huntley¹⁵, Julia Jefferis¹⁶, Karin Kassahn^{17

18}, Anna Leaver¹⁹, Ben Lundie^{20

21}, Sebastian Lunke¹⁰, Caitlin O'Connor²², Greg Pratt²³, Catherine Quinlan^{1

24

25

26

27}, Dianne Shearman²⁸, Jacqueline Soraru^{29

30}, Madhivanan Sundaram³¹, Michel Tchan³², Giulia Valente¹⁹, Julie White³³, Ella Wilkins^{1

4

10

24

34}, Steve I Alexander^{1

35

36}, Noa Amir^{35

37}, Stephanie Best^{4

9

38}, Hossai Gul³⁹, Kushani Jayasinghe^{1

4

40

41}, Hugh McCarthy^{1

35

36

42

43}, Chirag Patel^{1

22}, Zornitza Stark^{1

10

9

24}, Andrew J Mallett^{44

45

46

47}

Affiliations

¹ The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
² Garvan Institute of Medical Research, Sydney, NSW, Australia.
³ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
⁴ Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁵ College of Medicine & Dentistry, James Cook University, Townsville, QLD, Australia.
⁶ Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia.
⁷ Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁸ Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁹ Australian Genomics, Melbourne, VIC, Australia.
¹⁰ Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
¹¹ Pathology Queensland, Genetic Testing Stewardship Service, Brisbane, QLD, Australia.
¹² PKD Australia, Sydney, NSW, Australia.
¹³ Royal Hobart Hospital, Hobart, TAS, Australia.
¹⁴ Health Economics Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
¹⁵ Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁶ Princess Alexandra Hospital, Brisbane, QLD, Australia.
¹⁷ Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁸ Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
¹⁹ Austin Hospital, Melbourne, VIC, Australia.
²⁰ Pathology Queensland, Brisbane, QLD, Australia.
²¹ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
²² Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
²³ Central Queensland University, Brisbane, QLD, Australia.
²⁴ Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
²⁵ Department of Nephrology, Royal Children's Hospital, Melbourne, VIC, Australia.
²⁶ Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
²⁷ Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
²⁸ Alport Foundation of Australia, Sydney, NSW, Australia.
²⁹ Department of Nephrology and Hypertension, Perth Children's Hospital, Perth, WA, Australia.
³⁰ Department of Nephrology and Renal Transplantation, Fiona Stanley Hospital, Perth, WA, Australia.
³¹ Royal Darwin Hospital, Darwin, NT, Australia.
³² Westmead Hospital, Sydney, NSW, Australia.
³³ Office of Research and Innovation, Queensland Health, Brisbane, QLD, Australia.
³⁴ Royal Children's Hospital, Melbourne, VIC, Australia.
³⁵ Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
³⁶ Department of Nephrology, Sydney Children's Hospital, Sydney, NSW, Australia.
³⁷ Sydney School of Public Health, The University of Sydney, Sydney, NSW, Australia.
³⁸ School of Health Sciences, The University of Melbourne, Melbourne, VIC, Australia.
³⁹ University of Technology Sydney, Sydney, NSW, Australia.
⁴⁰ Department of Nephrology, Monash Medical Centre, Melbourne, VIC, Australia.
⁴¹ School of Clinical Sciences, Monash University, Melbourne, VIC, Australia.
⁴² School of Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁴³ Department of Nephrology, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁴⁴ The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia. andrew.mallett@health.qld.gov.au.
⁴⁵ College of Medicine & Dentistry, James Cook University, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.
⁴⁶ Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.
⁴⁷ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. andrew.mallett@health.qld.gov.au.

^# Contributed equally.

PMID: 39154021
PMCID: PMC11330018
DOI: 10.1186/s40246-024-00656-y

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

Amali Mallawaarachchi et al. Hum Genomics. 2024.

. 2024 Aug 17;18(1):88.

doi: 10.1186/s40246-024-00656-y.

Authors

Affiliations

¹ The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
² Garvan Institute of Medical Research, Sydney, NSW, Australia.
³ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
⁴ Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁵ College of Medicine & Dentistry, James Cook University, Townsville, QLD, Australia.
⁶ Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia.
⁷ Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁸ Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁹ Australian Genomics, Melbourne, VIC, Australia.
¹⁰ Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
¹¹ Pathology Queensland, Genetic Testing Stewardship Service, Brisbane, QLD, Australia.
¹² PKD Australia, Sydney, NSW, Australia.
¹³ Royal Hobart Hospital, Hobart, TAS, Australia.
¹⁴ Health Economics Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
¹⁵ Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁶ Princess Alexandra Hospital, Brisbane, QLD, Australia.
¹⁷ Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁸ Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
¹⁹ Austin Hospital, Melbourne, VIC, Australia.
²⁰ Pathology Queensland, Brisbane, QLD, Australia.
²¹ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
²² Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
²³ Central Queensland University, Brisbane, QLD, Australia.
²⁴ Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
²⁵ Department of Nephrology, Royal Children's Hospital, Melbourne, VIC, Australia.
²⁶ Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
²⁷ Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
²⁸ Alport Foundation of Australia, Sydney, NSW, Australia.
²⁹ Department of Nephrology and Hypertension, Perth Children's Hospital, Perth, WA, Australia.
³⁰ Department of Nephrology and Renal Transplantation, Fiona Stanley Hospital, Perth, WA, Australia.
³¹ Royal Darwin Hospital, Darwin, NT, Australia.
³² Westmead Hospital, Sydney, NSW, Australia.
³³ Office of Research and Innovation, Queensland Health, Brisbane, QLD, Australia.
³⁴ Royal Children's Hospital, Melbourne, VIC, Australia.
³⁵ Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
³⁶ Department of Nephrology, Sydney Children's Hospital, Sydney, NSW, Australia.
³⁷ Sydney School of Public Health, The University of Sydney, Sydney, NSW, Australia.
³⁸ School of Health Sciences, The University of Melbourne, Melbourne, VIC, Australia.
³⁹ University of Technology Sydney, Sydney, NSW, Australia.
⁴⁰ Department of Nephrology, Monash Medical Centre, Melbourne, VIC, Australia.
⁴¹ School of Clinical Sciences, Monash University, Melbourne, VIC, Australia.
⁴² School of Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
⁴³ Department of Nephrology, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁴⁴ The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia. andrew.mallett@health.qld.gov.au.
⁴⁵ College of Medicine & Dentistry, James Cook University, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.
⁴⁶ Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.
⁴⁷ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. andrew.mallett@health.qld.gov.au.

^# Contributed equally.

PMID: 39154021
PMCID: PMC11330018
DOI: 10.1186/s40246-024-00656-y

Abstract

The KidGen Collaborative's Policy Implementation Workshop 2023 celebrated the 10th anniversary of Australia's first kidney genetics clinic in Brisbane. This event marked the establishment of a national network now comprising 19 kidney genetics clinics across Australia, all dedicated to providing equitable access to genomic testing for families affected by genetic kidney diseases. The workshop reflected on past progress and outlined future objectives for kidney genetics in Australia, recognising the collaborative efforts of clinical teams, researchers, and patients. Key insights from the workshop are documented in the proceedings.

Keywords: Creative problem-solving; Genomic testing; KidGen; Kidney disease; Personalised medicine.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

**Fig. 1**
Navigating the Genomic Landscape in Nephrology: Advancing Precision Care. Informed by their real-world nephrology experiences, KidGen Workshop participants emphasised the need for greater involvement of genetic counsellors and patient representatives in shaping future healthcare models. While challenges like resourcing, consenting, and counselling exist, the participants also identified enablers such as telehealth, stewardship, and decision aids. They recommended organising regular brain trust meetings and creating secondary pathways for genetically undiagnosed but well-phenotyped patients as integral components of future models

**Fig. 2**
Kidney Genomic Study: Overview and Study Flow. The study aims to use advanced genomic testing to deliver genetic diagnoses to previously undiagnosed individuals in clinical networks. A. It accepts both paediatric and adult patients. The diagram describes the inclusion criteria, such as referral by a nephrologist or clinical geneticist, and the exclusion criteria, including non-familial GKD. It also includes advice for doctors and genetic counsellors regarding patient inclusion in the study. The leaflet mentions several resources, including the Participation Information & Consent Form and the Australian Genomic Consent Fact Sheet. A QR code is provided for rapid access to nominations; however, nominations must not include identifiable information. B. The process begins with a new patient or re-analysing a de-identified recruitment database. The clinical team assesses patients based on predefined criteria, determining inclusion, exclusion, or the need for further information. Following a multidisciplinary team (MDT) review, patients are either enrolled in the study or not recruited. Enrolled patients' data are then transferred to a study database for sample testing, which may involve various sequencing methods. The researcher obtained and communicated the results to the local clinician and patient within 12 months

**Fig. 3**
Visualizing Interactive Reasoning in Crafting the Future of Care for Genetic Kidney Diseases. This diagram, collaboratively developed during the KidGen Workshop, encapsulates discussions about the imperative for innovative therapies within well-structured clinical trials for patients facing genetic kidney diseases. Undertaking this intricate task involves the collective efforts of various stakeholders, such as government institutions, clinicians, families, educational activities, and funding bodies, working synergistically towards a shared goal: better lives for patients with genetic kidney diseases

See this image and copyright information in PMC

References

1. Jayasinghe K, et al. Implementation and evaluation of a national multidisciplinary kidney genetics clinic network over 10 years. Kidney International Reports. 2024. 10.1016/j.ekir.2024.04.068.10.1016/j.ekir.2024.04.068 - DOI
1. Mallawaarachchi AC, et al. Genomic testing in patients with kidney failure of an unknown cause: a national australian study. Clin J Am Soc Nephrol. 2024. 10.2215/CJN.0000000000000464. 10.2215/CJN.0000000000000464 - DOI - PMC - PubMed
1. Stark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet. 2023;24(11):755–66. 10.1038/s41576-023-00621-w. 10.1038/s41576-023-00621-w - DOI - PubMed
1. Mallett A, et al. A multidisciplinary renal genetics clinic improves patient diagnosis. Med J Aust. 2016;204(2):58–9. 10.5694/mja15.01157. 10.5694/mja15.01157 - DOI - PubMed
1. Alkanderi S, et al. Lessons learned from a multidisciplinary renal genetics clinic. QJM. 2017;110(7):453–7. 10.1093/qjmed/hcx030. 10.1093/qjmed/hcx030 - DOI - PubMed

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Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

Affiliations

Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous