Evidence map›Paper›PMID 39990878›Full record

ArticleKidney international reports2025

Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.

Clara Schott, Monica Arnaldi, Cadence Baker, Jian Wang, Adam D McIntyre, Samantha Colaiacovo, Sydney Relouw, Gabriela Almada Offerni, Carla Campagnolo, Logan R Van Nynatten and 22 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Kidney international reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. 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

32 authors.

Clara SchottDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Monica ArnaldiDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Cadence BakerDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Jian WangRobarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Adam D McIntyreRobarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Samantha ColaiacovoDepartment of Pediatrics, Division of Medical Genetics, Victoria Hospital, London Health Science Center, London, Ontario, Canada.
Sydney RelouwDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Gabriela Almada OfferniDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Carla CampagnoloDepartment of Pediatrics, Division of Medical Genetics, Victoria Hospital, London Health Science Center, London, Ontario, Canada.
Logan R Van NynattenDepartment of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Ava PourtousiDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Alexa Drago-CatalfoDepartment of Biology, Western University, London, Ontario, Canada.
Victoria LebedevaDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Michael ChiuDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Andrea CowanDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Guido FillerDepartment of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Lakshman GunaratnamDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Andrew A HouseDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Susan HuangDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Hariharan IyerDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Arsh K JainDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Anthony M JevnikarDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Khaled LotfyDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Louise MoistDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Faisal RehmanDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Pavel S RoshanovDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Ajay P SharmaDepartment of Pediatrics, Division of Nephrology, Victoria Hospital, London, Ontario, Canada.
Matthew A WeirDepartment of Medicine, Division of Nephrology, London Health Sciences Centre, London, Ontario, Canada.
Kendrah KiddSection on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Anthony J BleyerSection on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Robert A HegeleDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Dervla M ConnaughtonDepartment of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Genetic kidney disease (GKD) accounts for 10% to 20% of chronic kidney disease (CKD). Genetic testing using gene panel or targeted exome sequencing (ES) can confirm GKD; however, integration into clinical practice has been hampered by small studies, selective populations, and data predominately derived from research settings. Using prespecified clinical referral criteria and a diagnostic pipeline, we performed a prospective cohort study describing diagnostic efficacy and clinical utility of genetic assessment in patients with CKD. Methods: We analyzed a prospective cohort of 300 participants (256 families) referred to a kidney genetics clinic, between March 2020 and March 2024. Testing strategies included gene panels, and if negative or unsuitable, targeted ES analysis. Testing was performed for the detection of variants in genes known to cause CKD. Results: We identified a causative variant in 33% of families (85/256). Diagnostic yield increased from 23% ( Conclusion: Instituting referral guidelines and a standardized testing algorithm established a genetic diagnosis in one-third of participants, providing insight into the viability of integrating genetic assessment in the CKD diagnostic pathway. Considering the potential for clinical utility, strategies to reduce the time from CKD diagnosis to genetics assessment are needed.

Indexed as

chronic kidney disease (CKD)end-stage kidney disease (ESKD)exome sequencinggene panelsgenetic testinggenomics testing

Identifiers

PMID39990878
PMCPMC11843117

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Registered trials

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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.