Evidence map›Paper›PMID 40590279›Full record

SynthesisJournal of genetic counseling2025

The attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing: A systematic review.

Shanice Allen, Alisdair McNeill, Christopher McDermott, Felicity Boardman, Jade Howard

Abstract readSystematic Review
In one paragraph

Synthesis in Journal of genetic counseling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

5 authors.

Shanice AllenDivision of Neuroscience & Neuroscience Institute, The University of Sheffield, Sheffield, UK.ORCID 0009-0000-1619-2930
Alisdair McNeillDivision of Neuroscience & Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Christopher McDermottDivision of Neuroscience & Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Felicity BoardmanUniversity of Warwick, Coventry, UK.
Jade HowardDivision of Neuroscience & Neuroscience Institute, The University of Sheffield, Sheffield, UK.

Funding

MND Scotland 2023/MNDS/6400/752McNNIHR Sheffield Biomedical Research Center and an NIHR Research Professorship
6 · The paper itself

Abstract

Individuals who carry a genetic variant for a genetic disease can access reproductive genetic testing in order to prevent the transmission of the gene variant to their children. This systematic review aimed to synthesize the findings from both qualitative and quantitative literature to understand these individuals' attitudes toward pre-implantation genetic testing (PGT) and prenatal testing (PNT) and how they make decisions around them. A systematic search was undertaken following PRISMA guidelines, with 37 articles meeting the inclusion criteria for evaluating experiences and attitudes of individuals with or at risk of adult-onset genetic conditions on reproductive genetic testing. Relevant findings from each study were included in a thematic synthesis. Five analytical themes were generated to elucidate the attitudes toward reproductive genetic testing and the factors that impact decision-making in individuals with or at risk of late-onset genetic diseases: (1) Preventing gene transmission; (2) finding the threshold: evaluating the necessity of reproductive genetic testing; (3) ethical/acceptability considerations; (4) external influences in decision-making; and (5) psychological and practical concerns of reproductive genetic testing. This review highlights several factors that influence attitudes toward reproductive genetic testing. Complex decision-making was a cross-cutting experience that characterizes and defines reproductive genetic testing for late-onset conditions. There was a general consensus of support for reproductive genetic testing and a belief that it should be available to all. The need for awareness and education on reproductive genetic testing is evident. Future work should look at how to address these knowledge deficits, while exploring individuals' preferences for when and by whom information is delivered. Acknowledging the complexity of decision-making can encourage meaningful discussions and address potential issues.

Indexed as

Genetic Diseases, InbornGenetic TestingAdultDecision MakingFemaleHumansPrenatal Diagnosisdecision‐makinggenetic diseaseslate‐onset diseasespreimplantation genetic testingprenatal testingreproductive genetic testingreproductive options

Identifiers

PMID40590279
PMCPMC12210335

What OpenQuestion holds

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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.