Evidence map›Paper›PMID 32651253›Full record

ArticleJournal of medical ethics2020

Genetic testing in the acute setting: a round table discussion.

John Henry McDermott

Open access · greenAbstract read
In one paragraph

Article in Journal of medical ethics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. The Implementation of Pharmacogenetics in the United Kingdom.Handbook of experimental pharmacology · 2023
    Article
  6. Article
  7. Article
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  9. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

John Henry McDermottManchester Centre for Genomic, Manchester University NHS Foundation Trust, Manchester, UK john.mcdermott2@mft.nhs.uk.ORCID 0000-0002-5220-8837
Manchester University NHS Foundation Trust · GB

Funding

Department of Health II-LB-0417-20002
6 · The paper itself

Abstract

Genetic testing has historically been performed in the context of chronic disease and cancer diagnostics. The timelines for these tests are typically measured in days or weeks, rather than in minutes. As such, the concept that genetic information might be generated and then used to alter management in the acute setting has, thus far, not been feasible. However, recent advances in genetic technologies have the potential to allow genetic information to be generated significantly quicker. The m.1555A>G genetic variant is present in one in 500 individuals and predisposes to profound hearing loss following the administration of aminoglycoside antibiotics. These antibiotics are used frequently in cases of neonatal sepsis and it is estimated that approximately 180 neonates in the UK are at risk of antibiotic induced hearing loss each year because of this genetic change. Knowledge of this variant in the acute setting would allow clinicians to prescribe alternative antibiotics. The Pharmacogenetics to Avoid Loss of Hearing study will implement a genetic point of care test (POCT) for the m.1555A>G variant within two major UK based neonatal intensive care units. This represents the first trial of a genetic POCT aimed at altering management in the acute setting. This round table discussion outlines the novel ethical issues faced in the development of this trial and the legal barriers to implementation. We ask five stakeholders to provide their opinions on this trial and their perspectives on the concept of genetic testing in the acute setting.Trial registration numberISRCTN-13704894.

Indexed as

Hearing LossPoint-of-Care TestingAminoglycosidesAnti-Bacterial AgentsDeafnessEthics, ClinicalGenetic Predisposition to DiseaseGenetic TestingHearing TestsHumansInfant, NewbornNeonatologyPharmacogeneticsAminoglycosidesAnti-Bacterial Agentsclinical ethicsgenethicsgenetic informationgenetic screening/testingneonatology

Identifiers

PMID32651253
PMCPMC7418589
OpenAlexW3041348245

What OpenQuestion holds

Textmetadata
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.