Evidence map›Paper›PMID 40225372›Full record

ReviewKidney international reports2025

Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.

Emily Groopman, Hila Milo Rasouly

Abstract readReview
In one paragraph

Review 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 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. Article
  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

2 authors.

Emily GroopmanPediatrics and Medical Genetics Combined Residency Program, Children's National Hospital, Washington, DC, USA.
Hila Milo RasoulyDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.

Funding

Advancing equitable implementation of genomic medicine in nephrologyK01DK132495 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Hila Milo Rasouly · 2022 to 2026
$722k
NIDDK NIH HHS K01 DK132495
6 · The paper itself

Abstract

Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine. Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic testing can identify a specific etiology and meaningfully impact management. However, with numerous options for genetic testing available, nephrologists may feel uncomfortable integrating genetics into their clinical practice. Here, we aim to demystify the process of genetic test selection and highlight the opportunities for interdisciplinary collaboration between nephrologists and genetics professionals, thereby supporting precision medicine for patients with kidney disease. We first detail the various clinical genetic testing modalities, highlighting their technical advantages and limitations, and then discuss indications for their usage. Next, we provide a generalized workflow for genetic test selection among individuals with kidney disease and illustrate how this workflow can be applied to genetic test selection across diverse clinical contexts. We then discuss key areas related to the usage of genetic testing in clinical nephrology that merit further research and approaches to investigate them.

Indexed as

genetic counselinggenetic diagnosisgenetic kidney diseasegenetic testingnephrogeneticsnext-generation sequencing

Identifiers

PMID40225372
PMCPMC11993218

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.