Evidence map›Paper›PMID 29043570›Full record

ReviewJournal of nephrology2018

Towards precision nephrology: the opportunities and challenges of genomic medicine.

Jordan G Nestor, Emily E Groopman, Ali G Gharavi

Abstract readReview
In one paragraph

Review in Journal of nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–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

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
  11. 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

3 authors.

Jordan G NestorDivision of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0003-1418-3103
Emily E GroopmanDivision of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA.
Ali G GharaviDivision of Nephrology, Department of Medicine, College of Physicians and Surgeons, Columbia University, 1150 St. Nicholas Ave, Room 413, New York, NY, 10032, USA. ag2239@columbia.edu.

Funding

OMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3M
Precision Medicine Research in NephrologyT32DK108741 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BARASCH, JONATHAN M., GHARAVI, ALI G · 2016 to 2020
$783k
Utility of Genomic Diagnostics for Chronic Kidney DiseaseF30DK116473 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GROOPMAN, EMILY EVE · 2017 to 2021
$133k
NHGRI NIH HHS 5U01HG008680-03NHGRI NIH HHS U01 HG008680NIDDK NIH HHS 1T32Dk108741-01NIDDK NIH HHS F30 DK116473NIDDK NIH HHS T32 DK108741NIH HHS 1F30DK116473
6 · The paper itself

Abstract

The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.

Indexed as

Clinical Decision-MakingDiffusion of InnovationForecastingGenetic Predisposition to DiseaseGenetic TestingGenomicsHumansKidney DiseasesNephrologyPhenotypePrecision MedicinePredictive Value of TestsPrognosisCopy number variantsGenetic testingNephrologyNext generation sequencingReturn of resultsVariant interpretation

Identifiers

PMID29043570
PMCPMC5777884

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.