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

Humans Australia Kidney Diseases / genetics Genetic Testing / trends
Creative problem-solving Genomic testing KidGen Kidney disease Personalised medicine

Journal

Human genomics
ISSN: 1479-7364
Titre abrégé: Hum Genomics
Pays: England
ID NLM: 101202210

Informations de publication

Date de publication:
17 Aug 2024
Historique:
received: 21 07 2024
accepted: 09 08 2024
medline: 18 8 2024
pubmed: 18 8 2024
entrez: 17 8 2024
Statut: epublish

Résumé

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.

Identifiants

DOI: 10.1186/s40246-024-00656-y PMID: 39154021
pubmed: 39154021
doi: 10.1186/s40246-024-00656-y
pii: 10.1186/s40246-024-00656-y
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

88

Subventions

Organisme : Australian Government Department of Health and Aged Care
ID : 4-E8LEZOZ

Informations de copyright

© 2024. The Author(s).

Références

Jayasinghe K, et al. Implementation and evaluation of a national multidisciplinary kidney genetics clinic network over 10 years. Kidney International Reports. 2024. https://doi.org/10.1016/j.ekir.2024.04.068 .
doi: 10.1016/j.ekir.2024.04.068
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. https://doi.org/10.2215/CJN.0000000000000464 .
doi: 10.2215/CJN.0000000000000464 pubmed: 38861662
Stark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet. 2023;24(11):755–66. https://doi.org/10.1038/s41576-023-00621-w .
doi: 10.1038/s41576-023-00621-w pubmed: 37386126
Mallett A, et al. A multidisciplinary renal genetics clinic improves patient diagnosis. Med J Aust. 2016;204(2):58–9. https://doi.org/10.5694/mja15.01157 .
doi: 10.5694/mja15.01157 pubmed: 26821098
Alkanderi S, et al. Lessons learned from a multidisciplinary renal genetics clinic. QJM. 2017;110(7):453–7. https://doi.org/10.1093/qjmed/hcx030 .
doi: 10.1093/qjmed/hcx030 pubmed: 28177086
Jayasinghe K, et al. Renal genetics in Australia: kidney medicine in the genomic age. Nephrology. 2019;24(3):279–86. https://doi.org/10.1111/nep.13494 .
doi: 10.1111/nep.13494 pubmed: 30239064
Mallett A, et al. Genomics in the renal clinic–translating nephrogenetics for clinical practice. Hum Genom. 2015;9(1):13. https://doi.org/10.1186/s40246-015-0035-1 .
doi: 10.1186/s40246-015-0035-1
Jayasinghe K, et al. Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol. BMJ Open. 2019;9(8): e029541. https://doi.org/10.1136/bmjopen-2019-029541 .
doi: 10.1136/bmjopen-2019-029541 pubmed: 31383705 pmcid: 6687024
Haas MA, et al. Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01454-1 .
doi: 10.1038/s41431-023-01454-1 pubmed: 37709947 pmcid: 10772119
Amir N, McCarthy HJ, Tong A. Qualitative research in nephrology: an introduction to methods and critical appraisal. Kidney360. 2021;2(4):737–41. https://doi.org/10.34067/KID.0006302020 .
doi: 10.34067/KID.0006302020 pubmed: 35373042 pmcid: 8791319
Kwon SC, et al. Applying a community-based participatory research framework to patient and family engagement in the development of patient-centered outcomes research and practice. Transl Behav Med. 2018;8(5):683–91. https://doi.org/10.1093/tbm/ibx026 .
doi: 10.1093/tbm/ibx026 pubmed: 30202926
Forsythe LP, et al. Patient engagement in research: early findings from the patient-centered outcomes research institute. Health Aff. 2019;38(3):359–67. https://doi.org/10.1377/hlthaff.2018.05067 .
doi: 10.1377/hlthaff.2018.05067
Amir N, McCarthy HJ, Tong A. A working partnership: a review of shared decision-making in nephrology. Nephrology. 2021;26(11):851–7. https://doi.org/10.1111/nep.13902 .
doi: 10.1111/nep.13902 pubmed: 34010487
Robertson AJ, et al. Evolution of virtual gene panels over time and implications for genomic data re-analysis. Genet Med Open. 2023;1(1): 100820. https://doi.org/10.1016/j.gimo.2023.100820 .
doi: 10.1016/j.gimo.2023.100820
Palmer BF, Kelepouris E, Clegg DJ. Renal tubular acidosis and management strategies: a narrative review. Adv Ther. 2021;38(2):949–68. https://doi.org/10.1007/s12325-020-01587-5 .
doi: 10.1007/s12325-020-01587-5 pubmed: 33367987
Thorlund K, et al. Key design considerations for adaptive clinical trials: a primer for clinicians. BMJ. 2018;360: k698. https://doi.org/10.1136/bmj.k698 .
doi: 10.1136/bmj.k698 pubmed: 29519932 pmcid: 5842365
Emma F, et al. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int. 2021;100(5):1112–23. https://doi.org/10.1016/j.kint.2021.06.019 .
doi: 10.1016/j.kint.2021.06.019 pubmed: 34237326
de Wert G, et al. Opportunistic genomic screening. Recommendations of the European society of human genetics. Eur J Hum Genet. 2021;29(3):365–77. https://doi.org/10.1038/s41431-020-00758-w .
doi: 10.1038/s41431-020-00758-w pubmed: 33223530
Rhoads A, Au KF. PacBio sequencing and its applications. Genom Proteom Bioinform. 2015;13(5):278–89. https://doi.org/10.1016/j.gpb.2015.08.002 .
doi: 10.1016/j.gpb.2015.08.002
Gilbert SE, et al. A comparison of the distribution of medical research future fund grants with disease burden in Australia. Med J Aust. 2021;214(3):111-113e1. https://doi.org/10.5694/mja2.50916 .
doi: 10.5694/mja2.50916 pubmed: 33429456
Truty R, et al. Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. Am J Hum Genet. 2021;108(4):696–708. https://doi.org/10.1016/j.ajhg.2021.03.006 .
doi: 10.1016/j.ajhg.2021.03.006 pubmed: 33743207 pmcid: 8059334
Angeles MR, Crosland P, Hensher M. Challenges for Medicare and universal health care in Australia since 2000. Med J Aust. 2023;218(7):322–9. https://doi.org/10.5694/mja2.51844 .
doi: 10.5694/mja2.51844 pubmed: 36739106
Casey JD, et al. What can a learning healthcare system teach us about improving outcomes? Curr Opin Crit Care. 2021;27(5):527–36. https://doi.org/10.1097/MCC.0000000000000857 .
doi: 10.1097/MCC.0000000000000857 pubmed: 34232148 pmcid: 8744083
Stark Z, et al. Australian genomics: outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. Am J Hum Genet. 2023;110(3):419–26. https://doi.org/10.1016/j.ajhg.2023.01.018 .
doi: 10.1016/j.ajhg.2023.01.018 pubmed: 36868206 pmcid: 10027474
Becherucci F, et al. A clinical workflow for cost-saving high-rate diagnosis of genetic kidney diseases. J Am Soc Nephrol. 2023;34(4):706–20. https://doi.org/10.1681/ASN.0000000000000076 .
doi: 10.1681/ASN.0000000000000076 pubmed: 36753701 pmcid: 10103218
Papp KK, et al. Milestones of critical thinking: a developmental model for medicine and nursing. Acad Med. 2014;89(5):715–20. https://doi.org/10.1097/ACM.0000000000000220 .
doi: 10.1097/ACM.0000000000000220 pubmed: 24667504
Dorst, K., Frame Innovation: Create New Thinking by Design. Frame Innovation: Create New Thinking by Design, 2015: p. 1–204 https://doi.org/10.7551/mitpress/10096.001.0001 .
Light DW. Addressing health care disparities: a radical perspective and proposal. Front Sociol. 2020;5:29. https://doi.org/10.3389/fsoc.2020.00029 .
doi: 10.3389/fsoc.2020.00029 pubmed: 33869437 pmcid: 8022773
Ehlke DC. From dispensaries to community health centers: health delivery change across the twentieth century. J Commun Health. 2018;43(3):625–7. https://doi.org/10.1007/s10900-018-0471-7 .
doi: 10.1007/s10900-018-0471-7
Fencl JL. Guideline implementation: patient information management. AORN J. 2016;104(6):566–77. https://doi.org/10.1016/j.aorn.2016.09.020 .
doi: 10.1016/j.aorn.2016.09.020 pubmed: 27890063
McDonald SP. Australia and New Zealand dialysis and transplant registry. Kidney Int Suppl. 2011;5(1):39–44. https://doi.org/10.1038/kisup.2015.8 .
doi: 10.1038/kisup.2015.8
Duncanson E, et al. Patient perspectives of center-specific reporting in kidney failure care: an Australian qualitative study. Kidney Int Rep. 2024;9(4):843–52. https://doi.org/10.1016/j.ekir.2024.01.001 .
doi: 10.1016/j.ekir.2024.01.001 pubmed: 38765598 pmcid: 11101730

Auteurs

Amali Mallawaarachchi (A)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Garvan Institute of Medical Research, Sydney, NSW, Australia.
Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, NSW, Australia.

Erik Biros (E)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
College of Medicine & Dentistry, James Cook University, Townsville, QLD, Australia.
Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia.

Trudie Harris (T)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia.

Bruce Bennetts (B)

Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Tiffany Boughtwood (T)

Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Australian Genomics, Melbourne, VIC, Australia.

Justine Elliott (J)

Victorian Clinical Genetics Services, Melbourne, VIC, Australia.

Lindsay Fowles (L)

Pathology Queensland, Genetic Testing Stewardship Service, Brisbane, QLD, Australia.

Robert Gardos (R)

PKD Australia, Sydney, NSW, Australia.

Denisse Garza (D)

Royal Hobart Hospital, Hobart, TAS, Australia.

Ilias Goranitis (I)

Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Health Economics Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.
Australian Genomics, Melbourne, VIC, Australia.

Matilda Haas (M)

Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Australian Genomics, Melbourne, VIC, Australia.

Vanessa Huntley (V)

Royal Adelaide Hospital, Adelaide, South Australia, Australia.

Julia Jefferis (J)

Princess Alexandra Hospital, Brisbane, QLD, Australia.

Karin Kassahn (K)

Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.

Anna Leaver (A)

Austin Hospital, Melbourne, VIC, Australia.

Ben Lundie (B)

Pathology Queensland, Brisbane, QLD, Australia.
Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.

Sebastian Lunke (S)

Victorian Clinical Genetics Services, Melbourne, VIC, Australia.

Caitlin O'Connor (C)

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.

Greg Pratt (G)

Central Queensland University, Brisbane, QLD, Australia.

Catherine Quinlan (C)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
Department of Nephrology, Royal Children's Hospital, Melbourne, VIC, Australia.
Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.

Dianne Shearman (D)

Alport Foundation of Australia, Sydney, NSW, Australia.

Jacqueline Soraru (J)

Department of Nephrology and Hypertension, Perth Children's Hospital, Perth, WA, Australia.
Department of Nephrology and Renal Transplantation, Fiona Stanley Hospital, Perth, WA, Australia.

Madhivanan Sundaram (M)

Royal Darwin Hospital, Darwin, NT, Australia.

Michel Tchan (M)

Westmead Hospital, Sydney, NSW, Australia.

Giulia Valente (G)

Austin Hospital, Melbourne, VIC, Australia.

Julie White (J)

Office of Research and Innovation, Queensland Health, Brisbane, QLD, Australia.

Ella Wilkins (E)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.
Royal Children's Hospital, Melbourne, VIC, Australia.

Steve I Alexander (SI)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Department of Nephrology, Sydney Children's Hospital, Sydney, NSW, Australia.

Noa Amir (N)

Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Sydney School of Public Health, The University of Sydney, Sydney, NSW, Australia.

Stephanie Best (S)

Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Australian Genomics, Melbourne, VIC, Australia.
School of Health Sciences, The University of Melbourne, Melbourne, VIC, Australia.

Hossai Gul (H)

University of Technology Sydney, Sydney, NSW, Australia.

Kushani Jayasinghe (K)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Department of Nephrology, Monash Medical Centre, Melbourne, VIC, Australia.
School of Clinical Sciences, Monash University, Melbourne, VIC, Australia.

Hugh McCarthy (H)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Department of Nephrology, Sydney Children's Hospital, Sydney, NSW, Australia.
School of Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Department of Nephrology, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Chirag Patel (C)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.

Zornitza Stark (Z)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Victorian Clinical Genetics Services, Melbourne, VIC, Australia.
Australian Genomics, Melbourne, VIC, Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

Andrew J Mallett (AJ)

The KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia. andrew.mallett@health.qld.gov.au.
College of Medicine & Dentistry, James Cook University, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.
Townsville Institute of Health Research and Innovation, Townsville University Hospital, Townsville, QLD, Australia. andrew.mallett@health.qld.gov.au.
Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia. andrew.mallett@health.qld.gov.au.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Shaping the future of kidney genetics in...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Australie › Shaping the future of kidney genetics in...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Shaping the future of kidney genetics in...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Shaping the future of kidney genetics in...