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

Kushani Jayasinghe; Erik Biros; Trudie Harris; Alasdair Wood; Rosie O'Shea; Lauren Hill; Lindsay Fowles; Louise Wardrop; Carolyn Shalhoub; Deirdre Hahn; Gopala Rangan; Lucy Kevin; Michel Tchan; Paul Snelling; Rhiannon Sandow; Madhivan Sundaram; Swasti Chaturvedi; Peter Trnka; Randall Faull; Nicola K. Poplawski; Vanessa Huntley; Denisse Garza; Mathew Wallis; Matthew Jose; Anna Leaver; Alison H. Trainer; Ella J. Wilkins; Sue White; Yoni Elbaum; Yael Prawer; Emma Krzesinski; Giulia Valente; Ingrid Winship; Jessica Ryan; John Whitlam; Kathy Nicholls; Kirsty West; Liz Donaldson; Lilian Johnstone; Miranda Lewit-Mendes; Peter G. Kerr; Simon Bodek; Aron Chakera; Mandi MacShane; Christine Mincham; Elaine Stackpoole; Francis Willis; Jacqueline Soraru; Nick Pachter; Bruce Bennetts; Thomas A. Forbes; Amali Mallawaarachchi; Catherine Quinlan; Chirag Patel; Hugh McCarthy; Illias Goranitis; Stephanie Best; Stephen Alexander; Zornitza Stark; Andrew J. Mallett

doi:10.1016/j.ekir.2024.04.068

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

Kushani Jayasinghe, Erik Biros, Trudie Harris, Alasdair Wood, Rosie O'Shea, Lauren Hill, Lindsay Fowles, Louise Wardrop, Carolyn Shalhoub, Deirdre Hahn, Gopala Rangan, Lucy Kevin, Michel Tchan, Paul Snelling, Rhiannon Sandow, Madhivan Sundaram, Swasti Chaturvedi, Peter Trnka, Randall Faull, Nicola K. PoplawskiVanessa Huntley, Denisse Garza, Mathew Wallis, Matthew Jose, Anna Leaver, Alison H. Trainer, Ella J. Wilkins, Sue White, Yoni Elbaum, Yael Prawer, Emma Krzesinski, Giulia Valente, Ingrid Winship, Jessica Ryan, John Whitlam, Kathy Nicholls, Kirsty West, Liz Donaldson, Lilian Johnstone, Miranda Lewit-Mendes, Peter G. Kerr, Simon Bodek, Aron Chakera, Mandi MacShane, Christine Mincham, Elaine Stackpoole, Francis Willis, Jacqueline Soraru, Nick Pachter, Bruce Bennetts, Thomas A. Forbes, Amali Mallawaarachchi, Catherine Quinlan, Chirag Patel, Hugh McCarthy, Illias Goranitis, Stephanie Best, Stephen Alexander, Zornitza Stark, Andrew J. Mallett

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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.

Original language	English
Pages (from-to)	2372-2385
Number of pages	14
Journal	Kidney International Reports
Volume	9
Issue number	8
DOIs	https://doi.org/10.1016/j.ekir.2024.04.068
Publication status	Published - Aug 2024
Externally published	Yes

Keywords

genomic testing
implementation
kidney disease

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ekir.2024.04.068Licence: CC BY-NC-ND

Final published versionFinal published version, 1.36 MBLicence: CC BY-NC-ND

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Jayasinghe, K., Biros, E., Harris, T., Wood, A., O'Shea, R., Hill, L., Fowles, L., Wardrop, L., Shalhoub, C., Hahn, D., Rangan, G., Kevin, L., Tchan, M., Snelling, P., Sandow, R., Sundaram, M., Chaturvedi, S., Trnka, P., Faull, R., ... Mallett, A. J. (2024). Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years. Kidney International Reports, 9(8), 2372-2385. https://doi.org/10.1016/j.ekir.2024.04.068

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title = "Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years",

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",

author = "Kushani Jayasinghe and Erik Biros and Trudie Harris and Alasdair Wood and Rosie O'Shea and Lauren Hill and Lindsay Fowles and Louise Wardrop and Carolyn Shalhoub and Deirdre Hahn and Gopala Rangan and Lucy Kevin and Michel Tchan and Paul Snelling and Rhiannon Sandow and Madhivan Sundaram and Swasti Chaturvedi and Peter Trnka and Randall Faull and Poplawski, {Nicola K.} and Vanessa Huntley and Denisse Garza and Mathew Wallis and Matthew Jose and Anna Leaver and Trainer, {Alison H.} and Wilkins, {Ella J.} and Sue White and Yoni Elbaum and Yael Prawer and Emma Krzesinski and Giulia Valente and Ingrid Winship and Jessica Ryan and John Whitlam and Kathy Nicholls and Kirsty West and Liz Donaldson and Lilian Johnstone and Miranda Lewit-Mendes and Kerr, {Peter G.} and Simon Bodek and Aron Chakera and Mandi MacShane and Christine Mincham and Elaine Stackpoole and Francis Willis and Jacqueline Soraru and Nick Pachter and Bruce Bennetts and Forbes, {Thomas A.} and Amali Mallawaarachchi and Catherine Quinlan and Chirag Patel and Hugh McCarthy and Illias Goranitis and Stephanie Best and Stephen Alexander and Zornitza Stark and Mallett, {Andrew J.}",

year = "2024",

month = aug,

doi = "10.1016/j.ekir.2024.04.068",

language = "English",

volume = "9",

pages = "2372--2385",

journal = "Kidney International Reports",

issn = "2468-0249",

publisher = "Elsevier Inc.",

number = "8",

}

Jayasinghe, K, Biros, E, Harris, T, Wood, A, O'Shea, R, Hill, L, Fowles, L, Wardrop, L, Shalhoub, C, Hahn, D, Rangan, G, Kevin, L, Tchan, M, Snelling, P, Sandow, R, Sundaram, M, Chaturvedi, S, Trnka, P, Faull, R, Poplawski, NK, Huntley, V, Garza, D, Wallis, M, Jose, M, Leaver, A, Trainer, AH, Wilkins, EJ, White, S, Elbaum, Y, Prawer, Y, Krzesinski, E, Valente, G, Winship, I, Ryan, J, Whitlam, J, Nicholls, K, West, K, Donaldson, L, Johnstone, L, Lewit-Mendes, M, Kerr, PG, Bodek, S, Chakera, A, MacShane, M, Mincham, C, Stackpoole, E, Willis, F, Soraru, J, Pachter, N, Bennetts, B, Forbes, TA, Mallawaarachchi, A, Quinlan, C, Patel, C, McCarthy, H, Goranitis, I, Best, S, Alexander, S, Stark, Z & Mallett, AJ 2024, 'Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years', Kidney International Reports, vol. 9, no. 8, pp. 2372-2385. https://doi.org/10.1016/j.ekir.2024.04.068

TY - JOUR

T1 - Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

AU - Jayasinghe, Kushani

AU - Biros, Erik

AU - Harris, Trudie

AU - Wood, Alasdair

AU - O'Shea, Rosie

AU - Hill, Lauren

AU - Fowles, Lindsay

AU - Wardrop, Louise

AU - Shalhoub, Carolyn

AU - Hahn, Deirdre

AU - Rangan, Gopala

AU - Kevin, Lucy

AU - Tchan, Michel

AU - Snelling, Paul

AU - Sandow, Rhiannon

AU - Sundaram, Madhivan

AU - Chaturvedi, Swasti

AU - Trnka, Peter

AU - Faull, Randall

AU - Poplawski, Nicola K.

AU - Huntley, Vanessa

AU - Garza, Denisse

AU - Wallis, Mathew

AU - Jose, Matthew

AU - Leaver, Anna

AU - Trainer, Alison H.

AU - Wilkins, Ella J.

AU - White, Sue

AU - Elbaum, Yoni

AU - Prawer, Yael

AU - Krzesinski, Emma

AU - Valente, Giulia

AU - Winship, Ingrid

AU - Ryan, Jessica

AU - Whitlam, John

AU - Nicholls, Kathy

AU - West, Kirsty

AU - Donaldson, Liz

AU - Johnstone, Lilian

AU - Lewit-Mendes, Miranda

AU - Kerr, Peter G.

AU - Bodek, Simon

AU - Chakera, Aron

AU - MacShane, Mandi

AU - Mincham, Christine

AU - Stackpoole, Elaine

AU - Willis, Francis

AU - Soraru, Jacqueline

AU - Pachter, Nick

AU - Bennetts, Bruce

AU - Forbes, Thomas A.

AU - Mallawaarachchi, Amali

AU - Quinlan, Catherine

AU - Patel, Chirag

AU - McCarthy, Hugh

AU - Goranitis, Illias

AU - Best, Stephanie

AU - Alexander, Stephen

AU - Stark, Zornitza

AU - Mallett, Andrew J.

PY - 2024/8

Y1 - 2024/8

N2 - 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.

AB - 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.

KW - genomic testing

KW - implementation

KW - kidney disease

UR - http://www.scopus.com/inward/record.url?scp=85194090189&partnerID=8YFLogxK

UR - http://purl.org/au-research/grants/NHMRC/1113531

U2 - 10.1016/j.ekir.2024.04.068

DO - 10.1016/j.ekir.2024.04.068

M3 - Article

AN - SCOPUS:85194090189

SN - 2468-0249

VL - 9

SP - 2372

EP - 2385

JO - Kidney International Reports

JF - Kidney International Reports

IS - 8

ER -

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

Abstract

Keywords

UN SDGs

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