Evidence map›Paper›PMID 40979400›Full record

ArticleGenetics in medicine open2025

Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.

Angela Du, Kaitlyn Lemay, Amit Bagga, Priya T Bhola, Pierre Antoine Brown, Samantha Colaiacovo, George S Charames, Mathieu Lemaire, Matthew B Lanktree, Laila Schenkel and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

19 authors.

Angela DuProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Kaitlyn LemayProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Amit BaggaWindsor Regional Hospital, Windsor, ON, Canada.
Priya T BholaChildren's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Pierre Antoine BrownDivision of Nephrology, Department of Medicine, University of Ottawa and The Ottawa Hospital, Ottawa, ON, Canada.
Samantha ColaiacovoDepartment of Clinical Genetics, Victoria Hospital, London Health Sciences Centre, London, ON, Canada.
George S CharamesDepartment of Molecular Genetics, University of Toronto, Toronto, Canada.
Mathieu LemaireHospital for Sick Children, Toronto, ON, Canada.
Matthew B LanktreeDepartments of Medicine and Health Research Methodology, Evidence, and Impact, McMaster University, Hamilton, ON, Canada.
Laila SchenkelPathology and Laboratory Medicine, London Health Sciences Centre and the University of Western Ontario, London, ON, Canada.
Luis G PeñaProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Samantha RiddellHealth Sciences North, Sudbury, ON, Canada.
Nicholas WatkinsProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Ted YoungDepartment of Lab Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Wilson YuProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Kathleen BellProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Raymond H KimProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Dervla M ConnaughtonProvincial Genetics Program, Ontario Health, Toronto, ON, Canada.
Ontario Health Provincial Genetics Program Renal Genetics Expert Group

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Genetic causes account for 10% to 20% of adult and 30% to 50% of pediatric chronic kidney disease (CKD). Patients with genetic CKD have a higher risk of progression to kidney failure. More than 500 genes are implicated in kidney disease; yet, Ontario's existing gene panel options includes fewer than 45 genes. Despite growing evidence for genetic testing in CKD care, testing is not systematically integrated into the diagnostic pathway. Standardized testing and clear eligibility criteria are needed to improve diagnosis, care, and outcomes. Methods: In 2023, Ontario Health's Provincial Genetics Program convened a Renal Genetics Expert Group to develop standardized genetic testing criteria and evidence-based multigene panels for CKD. This initiative aims to support equitable access to high-quality genetic services and improve clinical outcomes through early, accurate diagnoses. Results: An environmental scan of provincial, national, and international guidelines informed the development of a testing framework. Literature review and expert consensus guided the creation of eligibility criteria and panel content. Input from nephrologists, geneticists, genetic counsellors, and patients was incorporated throughout the process. Conclusion: Standardized recommendations for genetic testing in CKD promote consistent, equitable access to diagnostics across Ontario. Careful curation of multigene panels that align with current knowledge of gene-disease associations and patient phenotypes, can help streamline testing. Integration of this framework into clinical care will strengthen collaboration between nephrology and genetics, facilitate earlier diagnosis, and support personalized management, ultimately improving outcomes for individuals with CKD.

Indexed as

Chronic kidney diseaseGenetics testingGenomic medicineImplementationNephrogenetics

Identifiers

PMID40979400
PMCPMC12446555

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 Socratic graph.