Evidence map›Paper›PMID 40831288›Full record

ArticleJournal of genetic counseling2025

Prospective parents' views on reproductive genetic carrier screening: "You know better, you do better".

Chaya M Goldman, Sharon Lewis, John Massie, Edwin P Kirk, Allison Symons, Martin B Delatycki

Abstract read
In one paragraph

Article 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.

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

1 citing paper in PubMed.

  1. Article
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.

Chaya M GoldmanDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.ORCID 0009-0004-9366-6158
Sharon LewisMurdoch Children's Research Institute, Parkville, Victoria, Australia.
John MassieDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Edwin P KirkCentre of Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
Allison SymonsSpecialist Women's Ultrasound, Melbourne, Victoria, Australia.
Martin B DelatyckiDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X-linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations. However, the attitudes of the public to RGCS for many conditions have not been extensively studied in Australia. The aim of this study was to investigate the views of adults without a personal or familial history of a genetic condition on the inclusion of conditions with varying clinical characteristics in RGCS panels. In 15 semi-structured telephone interviews, participants of reproductive age recruited from an obstetric ultrasound clinic and with convenience sampling in Melbourne, Australia, were presented with descriptions of seven groups of conditions with a range of severities. Participants were asked their views on whether the condition should be included in RGCS and whether they would choose to undertake screening for the condition. Data was co-coded by at least two members of the research team and analyzed with quantitative content analysis and qualitative inductive content analysis. Most participants support the inclusion of a wide range of conditions on screening panels. The perceived severity of the conditions presented to prospective parents influenced their reproductive decision-making. Even if they would not alter their reproductive choices based on a high-risk result, this largely did not influence their views regarding the full range of conditions they believe should be included in carrier screening panels. Participants saw value in the choice and knowledge provided by RGCS panels. Reasons for excluding certain types of conditions included a perceived mild impact on quality of life and concern over societal impacts from broad screening. This study indicates that prospective parents want a tiered approach to RGCS and the ability to choose the severity of conditions included in screening.

Indexed as

Genetic Carrier ScreeningGenetic TestingParentsAdultAustraliaFemaleHumansMaleMiddle AgedProspective Studiescarrier testingexpanded carrier screeninggenetic conditionpreconceptionreproductive

Identifiers

PMID40831288
PMCPMC12365620

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Registered trials

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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.