Evidence map›Paper›PMID 38521406›Full record

ArticleKidney international2024

Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients.

Becky M Ma, Naama Elefant, Martina Tedesco, Kelsie Bogyo, Natalie Vena, Sarath K Murthy, Shiraz A Bheda, Sandy Yang, Nikita Tomar, Jun Y Zhang and 5 more

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

Article in Kidney international, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
7.6field-weighted citation impact, top 2% 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

8 citing papers in PubMed, 15 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 4 countries.

Becky M MaDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA; Division of Nephrology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, China.
Naama ElefantDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Martina TedescoDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy.
Kelsie BogyoDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Natalie VenaDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Sarath K MurthyDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Shiraz A BhedaDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Sandy YangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Nikita TomarDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Jun Y ZhangDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Syed Ali HusainDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Sumit MohanDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Hila Milo RasoulyDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.
Ali G GharaviDivision of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA; Department of Medicine, Center for Precision Medicine and Genomics, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA. Electronic address: ag2239@cumc.columbia.edu.
Columbia University · USQueen Mary Hospital · CN

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

Cardiovascular disease, infection, malignancy, and thromboembolism are major causes of morbidity and mortality in kidney transplant recipients (KTR). Prospectively identifying monogenic conditions associated with post-transplant complications may enable personalized management. Therefore, we developed a transplant morbidity panel (355 genes) associated with major post-transplant complications including cardiometabolic disorders, immunodeficiency, malignancy, and thrombophilia. This gene panel was then evaluated using exome sequencing data from 1590 KTR. Additionally, genes associated with monogenic kidney and genitourinary disorders along with American College of Medical Genetics (ACMG) secondary findings v3.2 were annotated. Altogether, diagnostic variants in 37 genes associated with Mendelian kidney and genitourinary disorders were detected in 9.9% (158/1590) of KTR; 25.9% (41/158) had not been clinically diagnosed. Moreover, the transplant morbidity gene panel detected diagnostic variants for 56 monogenic disorders in 9.1% KTRs (144/1590). Cardiovascular disease, malignancy, immunodeficiency, and thrombophilia variants were detected in 5.1% (81), 2.1% (34), 1.8% (29) and 0.2% (3) among 1590 KTRs, respectively. Concordant phenotypes were present in half of these cases. Reviewing implications for transplant care, these genetic findings would have allowed physicians to set specific risk factor targets in 6.3% (9/144), arrange intensive surveillance in 97.2% (140/144), utilize preventive measures in 13.2% (19/144), guide disease-specific therapy in 63.9% (92/144), initiate specialty referral in 90.3% (130/144) and alter immunosuppression in 56.9% (82/144). Thus, beyond diagnostic testing for kidney disorders, sequence annotation identified monogenic disorders associated with common post-transplant complications in 9.1% of KTR, with important clinical implications. Incorporating genetic diagnostics for transplant morbidities would enable personalized management in pre- and post-transplant care.

Indexed as

Exome SequencingGenetic TestingKidney TransplantationAdultAgedFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPostoperative ComplicationsTransplant Recipientsdiagnosticsexome sequencingkidney transplantationprecision medicine

Identifiers

PMID38521406
PMCPMC11410071
OpenAlexW4393029463

What OpenQuestion holds

Textmetadata
LicenceTDM
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.