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

Autor:	Jayasinghe K; Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia.; School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Biros E; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.; Townsville University Hospital, Townsville, Queensland, Australia., Harris T; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Townsville University Hospital, Townsville, Queensland, Australia., Wood A; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., O'Shea R; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Hill L; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Fowles L; Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Wardrop L; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Shalhoub C; Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Sydney, New South Wales, Australia., Hahn D; The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Rangan G; Westmead Hospital, Sydney, New South Wales, Australia.; Michael Stern Laboratory for Polycystic Kidney Disease, Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia., Kevin L; The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Tchan M; Westmead Hospital, Sydney, New South Wales, Australia., Snelling P; The Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Sandow R; The Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Sundaram M; Royal Darwin Hospital, Darwin, Northern Territory, Australia., Chaturvedi S; Royal Darwin Hospital, Darwin, Northern Territory, Australia., Trnka P; Queensland Children's Hospital, Brisbane, Queensland, Australia., Faull R; Royal Adelaide Hospital, Adelaide, South Australia, Australia., Poplawski NK; Royal Adelaide Hospital, Adelaide, South Australia, Australia.; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia., Huntley V; Royal Adelaide Hospital, Adelaide, South Australia, Australia., Garza D; Royal Hobart Hospital, Hobart, Tasmania, Australia., Wallis M; Royal Hobart Hospital, Hobart, Tasmania, Australia., Jose M; Royal Hobart Hospital, Hobart, Tasmania, Australia., Leaver A; Austin Hospital, Melbourne, Victoria, Australia., Trainer AH; Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Department of Oncology, Sir Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Victoria, Australia., Wilkins EJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., White S; Royal Children's Hospital, Melbourne, Victoria, Australia., Elbaum Y; Royal Children's Hospital, Melbourne, Victoria, Australia., Prawer Y; Monash Health, Melbourne, Victoria, Australia.; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Krzesinski E; Monash Health, Melbourne, Victoria, Australia.; Monash Genetics, Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Melbourne, Victoria, Australia., Valente G; Austin Hospital, Melbourne, Victoria, Australia., Winship I; Royal Melbourne Hospital, Melbourne, Victoria, Australia., Ryan J; Monash Health, Melbourne, Victoria, Australia., Whitlam J; Austin Hospital, Melbourne, Victoria, Australia., Nicholls K; Royal Melbourne Hospital, Melbourne, Victoria, Australia., West K; Royal Melbourne Hospital, Melbourne, Victoria, Australia., Donaldson L; Royal Melbourne Hospital, Melbourne, Victoria, Australia., Johnstone L; Monash Health, Melbourne, Victoria, Australia.; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Lewit-Mendes M; Monash Health, Melbourne, Victoria, Australia., Kerr PG; Monash Health, Melbourne, Victoria, Australia., Bodek S; Austin Hospital, Melbourne, Victoria, Australia., Chakera A; Sir Charles Gairdner Hospital, Perth, Western Australia, Australia., MacShane M; Sir Charles Gairdner Hospital, Perth, Western Australia, Australia., Mincham C; Perth Children's Hospital, Perth, Western Australia, Australia., Stackpoole E; Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.; Perth Children's Hospital, Perth, Western Australia, Australia.; Fiona Stanley Hospital Perth, Western Australia, Australia., Willis F; Perth Children's Hospital, Perth, Western Australia, Australia., Soraru J; Fiona Stanley Hospital Perth, Western Australia, Australia., Pachter N; Fiona Stanley Hospital Perth, Western Australia, Australia., Bennetts B; Department of Molecular Genetics, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Forbes TA; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Mallawaarachchi A; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Quinlan C; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia., Patel C; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., McCarthy H; Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Department of Nephrology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Department of Nephrology, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia., Goranitis I; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.; Australian Genomics, Melbourne, Victoria, Australia., Best S; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Oncology, Sir Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia.; Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Victorian Comprehensive Cancer Centre Alliance, Melbourne, Victoria, Australia., Alexander S; Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Department of Nephrology, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia., Stark Z; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia., Mallett AJ; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.; College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.; Townsville University Hospital, Townsville, Queensland, Australia.; Kidney Health Service, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.; Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Jazyk:	angličtina
Zdroj:	Kidney international reports [Kidney Int Rep] 2024 May 09; Vol. 9 (8), pp. 2372-2385. Date of Electronic Publication: 2024 May 09 (Print Publication: 2024).
DOI:	10.1016/j.ekir.2024.04.068
Abstrakt:	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. (© 2024 International Society of Nephrology. Published by Elsevier Inc.)
Databáze:	MEDLINE
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