Evidence map›Paper›PMID 36289583›Full record

ArticlePrenatal diagnosis2022

Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.

Lucinda Freeman, Martin B Delatycki, Jackie Leach Scully, Edwin P Kirk

Open access · hybridAbstract read
In one paragraph

Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.3field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
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  4. Review
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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

4 authors at 4 institutions in 1 country.

Lucinda FreemanSchool of Women's and Children's Health, UNSW, Randwick, New South Wales, Australia.ORCID 0000-0002-5814-3894
Martin B DelatyckiMurdoch Children's Research Institute, Parkville, Victoria, Australia.
Jackie Leach ScullyDisability Innovation Institute, UNSW, Sydney, New South Wales, Australia.
Edwin P KirkSchool of Women's and Children's Health, UNSW, Randwick, New South Wales, Australia.
New South Wales Department of Health · AUUniversity of Technology Sydney · AUUNSW Sydney · AUVictorian Clinical Genetics Services · AU

Funding

Australian Genomics Health Futures Mission GHFM73390(MRFF-G-MM)
6 · The paper itself

Abstract

objectiveReproductive genetic carrier screening (RGCS) panels often include genes associated with non-syndromic hearing loss (NSHL) despite a lack of evidence of acceptability. Although some couples take steps to avoid having a child who is deaf, there are effective interventions for children who are deaf. There is no consensus whether deafness is considered a disabling condition.

methodThis study explored views of people who had RGCS, without genes for NSHL, about this topic. Online surveys were sent to 2186 people who had a low chance RGCS result and 655 completed the survey (participation rate 30%).

resultsSixty-three percent (N = 412) think deafness is a serious health condition. The majority agreed (60%, N = 391) that with support (i.e. hearing aids/cochlear implants) deafness is a minor condition in children. Most (84%, N = 545) agreed genes for NSHL should be included in RGCS. Thirty-five percent (N = 231) indicated they would make different reproductive decisions if they had an increased chance of having a child born deaf; 31% would not change their reproductive plans and 34% were unsure what they would do.

conclusionWhile the majority support inclusion of genes associated with NSHL in RGCS, there was uncertainty about the severity of deafness as a health condition and there was no consensus on whether it is a health condition that warrants changing reproductive decisions.

Indexed as

DeafnessChildGenetic Carrier ScreeningHumans

Identifiers

PMID36289583
PMCPMC10100309
OpenAlexW4307352678

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.