Evidence map›Paper›PMID 37553298›Full record

ArticleClinical genetics2024

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.

Alexis Ceecee Britten-Jones, Heather G Mack, Andrea L Vincent, Lisa J Hill, Thomas L Edwards, Lauren N Ayton

Open access · hybridAbstract read
In one paragraph

Article in Clinical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
2.2field-weighted citation impact, top 12% 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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.

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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

6 authors at 3 institutions in 3 countries.

Alexis Ceecee Britten-JonesFaculty of Medicine, Dentistry and Health Sciences, Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Victoria, Australia.
Heather G MackFaculty of Medicine, Dentistry and Health Sciences, Department of Surgery (Ophthalmology), University of Melbourne, Parkville, Victoria, Australia.
Andrea L VincentEye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.ORCID 0000-0002-4185-3267
Lisa J HillSchool of Biomedical Sciences, Institute of Clinical Sciences, University of Birmingham, Birmingham, UK.
Thomas L EdwardsFaculty of Medicine, Dentistry and Health Sciences, Department of Surgery (Ophthalmology), University of Melbourne, Parkville, Victoria, Australia.
Lauren N AytonFaculty of Medicine, Dentistry and Health Sciences, Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Victoria, Australia.
The University of Melbourne · AUUniversity of Auckland · NZUniversity of Birmingham · GB

Funding

National Health and Medical Research Council Investigator Grant GNT#1195713Universitas 21 Health Sciences Group International Projects FundUniversity of Melbourne Driving Research Momentum FellowshipUniversity of Melbourne Early Career Researcher Grant
6 · The paper itself

Abstract

With advances in gene-based therapies for heritable retinal diseases, primary eye care clinicians should be informed on ocular genetics topics. This cross-sectional survey evaluated knowledge, attitudes, and concerns regarding genetic testing and gene therapy for retinal diseases among optometrists in Australia and New Zealand. Survey data included practitioner background, attitudes and practices towards genetic testing for monogenic inherited retinal disease (IRDs) and age-related macular degeneration, and knowledge of ocular genetics and gene therapy. Responses were received from 516 optometrists between 1 April and 31 December 2022. Key perceived barriers to accessing genetic testing were lack of clarity on referral pathways (81%), cost (65%), and lack of treatment options if a genetic cause is identified (50%). Almost all respondents (98%) believed that ophthalmologists should initiate genetic testing for IRDs and fewer understood the role of genetic counsellors and clinical geneticists. This study found that optometrists in Australia and New Zealand have a high level of interest in ocular genetics topics. However, knowledge gaps include referral pathways and awareness of genetic testing and gene therapy outcomes. Addressing perceived barriers to access and promoting sharing of knowledge between interdisciplinary networks can set the foundation for genetic education agendas in primary eye care.

Indexed as

Macular DegenerationOptometristsOptometryAustraliaCross-Sectional StudiesGenetic TestingGenetic TherapyHumansNew Zealandeye caregene therapygenetic testinginherited retinal diseasesocular geneticsoptometryprimary careretinitis pigmentosa

Identifiers

PMID37553298
PMCPMC10952375
OpenAlexW4385650045

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.