Evidence map›Paper›PMID 32734212›Full record

ArticleKidney medicine

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation.

Andrew J Mallett, Catherine Quinlan, Chirag Patel, Lindsay Fowles, Joanna Crawford, Michael Gattas, Richard Baer, Bruce Bennetts, Gladys Ho, Katherine Holman and 1 more

Erratum issuedOpen access · goldAbstract readCase Reports
In one paragraph

Article in Kidney medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
2.2field-weighted citation impact, top 13% 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

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

  1. Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    Pooled it
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 1 country.

Andrew J MallettDepartment of Renal Medicine, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Catherine QuinlanKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Chirag PatelKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Lindsay FowlesKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Joanna CrawfordKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Michael GattasGenetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
Richard BaerDepartment of Nephrology, Mater Public Hospital, South Brisbane, QLD, Australia.
Bruce BennettsKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Gladys HoKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Katherine HolmanKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Cas SimonsKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Melbourne Genomics Health Alliance · AURoyal Brisbane and Women's Hospital · AUChildren's Hospital at Westmead · AUUniversity of Queensland · AUUniversity of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

New technologies such as genomics present opportunities to deliver precision medicine, including in the diagnosis of rare kidney disorders. Simultaneously, social media platforms such as Twitter can provide rapid and wide-reaching information dissemination in health care and science. We present 2 cases in which the reporting of a novel genetic cause for human kidney disease was communicated through Twitter and then subsequently noted by treating clinicians, thereby resulting in rapid clinical diagnostic translation. In 1 family, this involved the reporting of heterozygous variants in

Indexed as

Genetic Kidney DiseaseGenomicsTwitter

Identifiers

PMID32734212
PMCPMC7380393
OpenAlexW2968058920

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.