Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/53364
Title: Next-generation nephrology: part 1 - An aid for genetic and genomic testing in pediatric nephrology.
Authors: Gupta A.;Jayasinghe K.;Majmundar A.;Mann N.;Sinha R.;Sampson M.G.;Quinlan C.
Monash Health Department(s): Nephrology
Institution: (Gupta) Dept of Pediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom
(Gupta) Dept of Paediatric Nephrology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom
(Gupta, Quinlan) Dept of Paediatric Nephrology, Royal Children's Hospital, Melbourne, Australia
(Gupta, Jayasinghe, Quinlan) Kidney Regeneration, Murdoch Research Institute, Melbourne, Australia
(Gupta) University of Bristol, Bristol, United Kingdom
(Jayasinghe) Dept of Nephrology, Monash Medical Centre, Melbourne, Australia
(Jayasinghe) Monash University, Melbourne, Australia
(Jayasinghe) Melbourne Health, Melbourne, Australia
(Majmundar, Mann, Sampson) Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, United States
(Majmundar, Mann, Sampson) Harvard Medical School, Boston, MA, United States
(Sinha) Institute of Child Health, Kolkata, India
(Sampson) Brigham and Women's Hospital Kidney Disease Initiative, Broad Institute, Cambridge, MA, United States
(Quinlan) Dept of Paediatrics, School of Medicine, University of Melbourne, Melbourne, Australia
Issue Date: 4-Mar-2025
Copyright year: 2025
Publisher: Springer Science and Business Media Deutschland GmbH
Place of publication: Germany
Publication information: Pediatric Nephrology. (no pagination), 2025. Date of Publication: 2025.
Journal: Pediatric Nephrology
Abstract: Genetic and genomic testing has transformed the practice of clinical nephrology. Yet nephrologists have identified genetic literacy and access to kidney genetic care models as critical barriers to utilising this technology in their practice. To accelerate the implementation of genomic medicine in clinical nephrology, we provide a two-part evidence-based educational review. This inaugural segment highlights the importance of genomic testing for kidney disease and the steps a nephrologist can take to understand and apply this technology to one's own clinical practice. The second part delineates approaches to operationalising a kidney genetics service based on existing models, reported barriers, and the authors' experiences in developing kidney clinic models for different settings.Copyright © The Author(s) 2025.
DOI: http://monash.idm.oclc.org/login?url=https://dx.doi.org/10.1007/s00467-025-06697-2
PubMed URL: 39945861
URI: https://repository.monashhealth.org/monashhealthjspui/handle/1/53364
Type: Article In Press
Subjects: chronic kidney failure
genetics
genomic medicine
genomics
kidney disease
nephrologist
nephrology
Type of Clinical Study or Trial: Review article (e.g. literature review, narrative review)
Appears in Collections:Articles

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