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Models of Care for the Implementation of Genetic Testing in Nephrology

2025· review· en· W4412465754 on OpenAlexafffund
Dervla M. Connaughton, Andrew Mallett

Bibliographic record

VenueSeminars in Nephrology · 2025
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsLondon Health Sciences CentreWestern University
FundersWestern UniversityAcademic Medical Organization of Southwestern OntarioSchulich School of Medicine and DentistryQueensland Health
KeywordsNephrologyInternal medicineGenetic testingMedicineIntensive care medicine

Abstract

fetched live from OpenAlex

Genetic testing holds great potential to enhance the diagnosis and management of kidney disease, yet its integration into routine nephrology care remains limited and often delayed. Despite strong evidence supporting its clinical utility and cost effectiveness, significant barriers hinder its widespread adoption. This review examines care models designed to embed genetic testing into nephrology practice and proposes strategies to improve access for chronic kidney disease patients. Key approaches include enhancing clinical genetic services, establishing kidney genetics clinics, using technology such as virtual consultations, forming variant review boards and multidisciplinary teams, and mainstreaming genetic testing into nephrology care. For each model, the review identifies essential components for success and discusses barriers and facilitators to implementation. By focusing on practical, scalable, and patient-centered solutions, this review advocates for a paradigm shift in nephrology care. It envisions genetic testing as a standard component of kidney disease management, aiming to improve outcomes and promote equitable care for patients globally.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.985
Threshold uncertainty score0.773

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.020
GPT teacher head0.330
Teacher spread0.310 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designOther design
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations5
Published2025
Admission routes2
Has abstractyes

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