Evidence map›Paper›PMID 40019555›Full record

ReviewPediatric nephrology (Berlin, Germany)2025

Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.

Asheeta Gupta, Kushani Jayasinghe, Amar Majmundar, Nina Mann, Rajiv Sinha, Matthew G Sampson, Catherine Quinlan

Abstract readReview
In one paragraph

Review in Pediatric nephrology (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Asheeta GuptaDept. of Pediatric Nephrology, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham , UK. asheeta.gupta@rch.org.au.ORCID 0000-0002-9654-6192
Kushani JayasingheKidney Regeneration, Murdoch Research Institute, Melbourne, Australia.
Amar MajmundarDivision of Pediatric Nephrology, Boston Children's Hospital, Massachusetts, USA.
Nina MannDivision of Pediatric Nephrology, Boston Children's Hospital, Massachusetts, USA.
Rajiv SinhaInstitute of Child Health, Kolkata, India.
Matthew G SampsonDivision of Pediatric Nephrology, Boston Children's Hospital, Massachusetts, USA.
Catherine QuinlanDept of Pediatric Nephrology, , Melbourne, Australia, Royal Children's Hospital, Melbourne, Australia.

Funding

Delineation of pathogenic mechanisms of NOS1AP and TRIM8 mutations in monogenic SRNS/FSGS.K08DK125768 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI MAJMUNDAR, AMAR J · 2021 to 2025
$841k
NIDDK NIH HHS K08 DK125768
6 · The paper itself

Abstract

Kidney genetic services are being created worldwide, revolutionising the way in which we manage families with suspected monogenic kidney disease. There is potential to learn from one another, whether one is just embarking on this journey or within an established kidney genetics service model with aspirations to optimise it further. This concluding portion of our two-part educational review explores the global efforts to integrate genomics into nephrology. We discuss key considerations for establishing kidney genetics services and share insights from successful implementation in Australia, India, the United Kingdom (UK) and the United States (US), through case studies. Widespread integration of genomics within nephrology still faces barriers including limited genomics education among clinicians, high costs and ethical concerns. Educational strategies including workshop-based, online resources and clinical decision tools are aiming to address the genomic literacy gap among nephrologists. Multidisciplinary kidney genetics clinic models comprising nephrologists, geneticists, clinical scientists and counsellors are proving to be an effective model of delivering this diagnostic tool. Data of how kidney genetics clinics can foster collaboration with registries to facilitate research and shared learning to optimise care for patients are becoming evident. We also explore the importance of equitable access to genomics services across diverse populations, advocating for policies that address disparities in access to healthcare and genetic data representation. We hope to highlight the importance of upskilling the nephrology workforce to fully leverage the advances in genomic medicine and ensure comprehensive, accessible and personalised care for patients with genetic kidney diseases.

Indexed as

GenomicsKidney DiseasesNephrologyGenetic TestingHumansClinicEducationEquityGeneticsGenomicsKidneyMainstreaming

Identifiers

PMID40019555
PMCPMC12296791

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.