Evidence map›Paper›PMID 37547535›Full record

ArticleKidney international reports2023

Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.

Maddalena Marasa, Dina F Ahram, Atteeq U Rehman, Adele Mitrotti, Avinash Abhyankar, Namrata G Jain, Patricia L Weng, Stacy E Piva, Hilda E Fernandez, Natalie S Uy and 15 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Kidney international reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 33% of its field
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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Extrarenal manifestations in inherited kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
    Review
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

25 authors at 5 institutions in 1 country.

Maddalena MarasaDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Dina F AhramDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Atteeq U RehmanThe New York Genome Center, New York, USA.
Adele MitrottiDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Avinash AbhyankarThe New York Genome Center, New York, USA.
Namrata G JainDivision of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, USA.
Patricia L WengDivision of Pediatric Nephrology, Department of Pediatrics, UCLA Medical Center and UCLA Medical Center-Santa Monica, Los Angeles, California, USA.
Stacy E PivaDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Hilda E FernandezDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Natalie S UyDivision of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, USA.
Debanjana ChatterjeeDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Byum H KilDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Jordan G NestorDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Vanessa FeliceThe New York Genome Center, New York, USA.
Dino RobinsonThe New York Genome Center, New York, USA.
Dilys WhytePediatric Specialty Center of Good Samaritan Hospital Medical Center, Babylon, New York, USA.
Ali G GharaviDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Gerald B AppelDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Jai RadhakrishnanDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Dominick SantorielloDepartment of Pathology and Cell Biology, Renal Pathology Division, Columbia University Medical Center, New York, USA.
Andrew BombackDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Fangming LinDivision of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, USA.
Vivette D D'AgatiDepartment of Pathology and Cell Biology, Renal Pathology Division, Columbia University Medical Center, New York, USA.
Vaidehi JobanputraThe New York Genome Center, New York, USA.
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University, New York, USA.
Columbia University · USNew York Genome Center · USColumbia University Irving Medical Center · USGood Samaritan Hospital Medical Center · USUCLA Medical Center · US

Funding

Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
Institutional Career Development CoreKL2TR001874 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GENKINGER, JEANINE M., SHIMBO, DAICHI · 2016 to 2025
$13.6M
NCATS NIH HHS KL2 TR001874NCATS NIH HHS UL1 TR001873
6 · The paper itself

Abstract

Introduction: The diagnosis and management of proteinuric kidney diseases such as focal segmental glomerulosclerosis (FSGS) are challenging. Genetics holds the promise to improve clinical decision making for these diseases; however, it is often performed too late to enable timely clinical action and it is not implemented within routine outpatient nephrology visits. Methods: We sought to test the implementation and feasibility of clinical rapid genome sequencing (GS) in guiding decision making in patients with proteinuric kidney disease in real-time and embedded in the outpatient nephrology setting. Results: We enrolled 10 children or young adults with biopsy-proven FSGS (9 cases) or minimal change disease (1 case). The mean age at enrollment was 16.2 years (range 2-30). The workflow did not require referral to external genetics clinics but was conducted entirely during the nephrology standard-of-care appointments. The total turn-around-time from enrollment to return-of-results and clinical decision averaged 21.8 days (12.4 for GS), which is well within a time frame that allows clinically relevant treatment decisions. A monogenic or APOL1-related form of kidney disease was diagnosed in 5 of 10 patients. The genetic findings resulted in a rectified diagnosis in 6 patients. Both positive and negative GS findings determined a change in pharmacological treatment. In 3 patients, the results were instrumental for transplant evaluation, donor selection, and the immunosuppressive treatment. All patients and families received genetic counseling. Conclusion: Clinical GS is feasible and can be implemented in real-time in the outpatient care to help guiding clinical management. Additional studies are needed to confirm the cost-effectiveness and broader utility of clinical GS across the phenotypic and demographic spectrum of kidney diseases.

Indexed as

feasibilityfocal segmental glomerulosclerosisgenetic diagnosisgenome sequencingimplementationproteinuria

Identifiers

PMID37547535
PMCPMC10403677
OpenAlexW4378373202

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.