Evidence map›Paper›PMID 39901087›Full record

ArticleBMC nephrology2025

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.

Amali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC nephrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors.

Amali MallawaarachchiThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Hugh McCarthySchool of Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Thomas A ForbesThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Kushani JayasingheThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Chirag PatelThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Stephen I AlexanderCentre for Kidney Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Tiffany BoughtwoodMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Jeffrey BraithwaiteCentre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, New South Wales, Australia.
Aron ChakeraSir Charles Gairdner Hospital, Perth, WA, Australia.
Sam CrafterWomen's and Children's Hospital, Adelaide, South Australia, Australia.
Ira W DevesonGarvan Institute of Medical Research, Sydney, NSW, Australia.
Randall FaullRoyal Adelaide Hospital, Adelaide, South Australia, Australia.
Trudie HarrisMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Lilian JohnstoneDepartment of Nephrology, Monash Children's Hospital, Monash Health, Melbourne, VIC, Australia.
Matthew JoseRoyal Hobart Hospital, Hobart, TAS, Australia.
Anna LeaverAustin Hospital, Melbourne, VIC, Australia.
Melissa H LittleMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Daniel MacArthurCentre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Tessa MattiskeMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Christine MinchamPerth 's Hospital, Perth, WA, Australia.
Kathy NichollsRoyal Melbourne Hospital, Melbourne, VIC, Australia.
Catherine QuinlanThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Michael C J QuinnGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Gopala RanganDepartment of Renal Medicine, Westmead Hospital, Sydney, NSW, Australia.
Jessica RyanMonash Health, Melbourne, VIC, Australia.
Cas SimonsCentre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Ian SmythMonash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, Australia.
Madhivanan SundaramRoyal Darwin Hospital, Darwin, NT, Australia.
Peter TrnkaQueensland 's Hospital, Brisbane, QLD, Australia.
Laura WeddGarvan Institute of Medical Research, Sydney, NSW, Australia.
Erik BirosMurdoch Children's Research Institute, Melbourne, VIC, Australia.
Zornitza StarkThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia.
Andrew MallettThe KidGen Collaborative, Australian Genomics, Melbourne, VIC, Australia. andrew.mallett@health.qld.gov.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis.

methodsThe KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids. DISCUSSION: The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.

Indexed as

Genetic TestingGenomicsKidney DiseasesAustraliaChildHumansAdvanced genomic testingDiagnostic yieldGenetic kidney diseaseRe-analysisStudy protocolUndiagnosed patients

Identifiers

PMID39901087
PMCPMC11792728

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.