Evidence map›Paper›PMID 36631542›Full record

SynthesisEuropean journal of human genetics : EJHG2023

Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review.

Laurent Pasquier, Maryn Reyneke, Lauranne Beeckman, Maria Siermann, Eva Van Steijvoort, Pascal Borry

Abstract readSystematic Review
In one paragraph

Synthesis in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision-Making and Polygenic Embryo Screening.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026
    Article
  3. Harmonizing the genetic counselor profession in Europe.European journal of human genetics : EJHG · 2026
    Article
  4. Article
  5. Review
  6. Review
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.

Laurent PasquierCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium. laurent.pasquier@chu-rennes.fr.ORCID 0000-0003-3985-1286
Maryn ReynekeCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium.
Lauranne BeeckmanCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium.ORCID 0000-0001-7770-782X
Maria SiermannCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium.ORCID 0000-0002-1289-1512
Eva Van SteijvoortCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium.ORCID 0000-0003-3134-4028
Pascal BorryCentre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, 3000, Leuven, Belgium.ORCID 0000-0002-4931-9560

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but these tests have not been integrated in a public health policy except for specific sub-groups. We aimed to provide an overview of the perspectives of multiple professional stakeholder groups in order to enhance a responsible implementation of population-based reproductive genetic carrier screening. We conducted a systematic literature search using eight online databases focussing on studies that were published from January 2009 to January 2021. We selected articles dealing with attitudes and opinions from different professional stakeholders, in particular healthcare professionals and policymakers, on how to implement a policy about carrier screening for a reproductive purpose. We identified 18 studies that met our inclusion criteria. Based on our inductive analysis, we identified ten themes categorized in both clinical and program management challenges: ensuring availability of RGCS to all couples who request the test, embedding RGCS as a test offer before pregnancy, providing clear and reliable information, ensuring voluntary participation, developing genetic counselling pre- and post-testing (after positive or negative result), avoiding psychological harm, ensuring equal access, avoiding social pressure, educating and involving a broad spectrum of non-genetic health care professionals, and promoting an independent non-commercial organisational structure. We highlight one major stumbling block on how to responsibly inform couples about hundreds different genetic conditions within constraints regarding time and ability of non-genetic professionals. We promote further research to tackle the issues brought up by this systematic review through pilot studies. Trial Registration: PROSPERO International Prospective Register of Systematic Reviews PROSPERO 2021 # CRD42021233762; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=233762 .

Indexed as

Genetic CounselingMovement DisordersFemaleGenetic Carrier ScreeningHealth PersonnelHumansPregnancy

Identifiers

PMID36631542
PMCPMC10133284

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.