Evidence map›Paper›PMID 42380256›Full record

ReviewEuropean journal of human genetics : EJHG2026

Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.

Claudine M Kraan, Amanda Springer, Janet C Long, Jeffrey Braithwaite, Belinda Dawson-McClaren, Alison D Archibald

Abstract readReview
PubMed Publisher
In one paragraph

Review in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Claudine M KraanReproductive Epidemiology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia. claudine.kraan@unimelb.edu.au.ORCID http://orcid.org/0000-0003-1805-6339
Amanda SpringerReproductive Epidemiology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0001-5363-8268
Janet C LongAustralian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0002-0553-682X
Jeffrey BraithwaiteAustralian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.ORCID http://orcid.org/0000-0003-0296-4957
Belinda Dawson-McClarenReproductive Epidemiology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-1372-8258
Alison D ArchibaldReproductive Epidemiology, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.ORCID http://orcid.org/0000-0002-4496-8262

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Reproductive genetic carrier screening (RGCS) is increasingly available and publicly funded in some jurisdictions. There is a pressing need for user-centric resources to support decision-making. We conducted a scoping review using the Joanna Briggs Institute framework with the aim of mapping studies published between 2014 and 2025 examining individual and reproductive couple perspectives on RGCS. Searches were conducted in Medline, Embase, PubMed and Web of Science. Studies were categorised by design and descriptive characteristics. Eighty-nine studies were included. Research documented motivations for accepting or declining RGCS and the interplay of systemic, structural and personal factors related to decision-making. Investigation of educational needs emphasized moving beyond clinical framing to reflect experiential knowledge. Multiple touchpoints were identified across the service implementation pathway, revealing opportunities for fit-for-purpose resource integration; and perspectives from those with experiential knowledge of genetic conditions added unique insights. However, population diversity was low, with limited research from rural, regional and/or remote locations, diverse family structures, people with intellectual disability or neurodiversity and cultural and linguistically diverse communities. This review maps individual and reproductive couple perspectives on RGCS and offers six expert recommendations for resource development. A key call to action is to engage priority populations in future RGCS research to avoid deepening health inequities.

Identifiers

PMID42380256

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.