ArticleEuropean journal of human genetics : EJHG2016
Advantages of expanded universal carrier screening: what is at stake?
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.Journal of community genetics · 2026Article
- Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review.Genetics in medicine open · 2026Review
- Primary care professionals' views on population-based expanded carrier screening: an online focus group study.Family practice · 2024Article
- Ethics in pre-ART genetics: a missed X-linked Menkes disease case.Journal of assisted reproduction and genetics · 2023Article
- The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening.European journal of human genetics : EJHG · 2023Article
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.Journal of personalized medicine · 2022Article
- Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.European journal of human genetics : EJHG · 2021Article
- Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.Journal of community genetics · 2021Article
- Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.Journal of community genetics · 2021Article
- The ethics of preconception expanded carrier screening in patients seeking assisted reproduction.Human reproduction open · 2021Article
- Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.American journal of human genetics · 2020Article
- Expanded universal carrier screening and its implementation within a publicly funded healthcare service.Journal of community genetics · 2020Review
- Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Values and value conflicts in implementation and use of preconception expanded carrier screening - an expert interview study.BMC medical ethics · 2019Article
- The evolving landscape of expanded carrier screening: challenges and opportunities.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.American journal of human genetics · 2018Article
- Implementing comprehensive genetic carrier screening in China-Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China.Pediatric investigation · 2018Review
- Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.Reproductive health · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation. This empirical ethics study aims to widen this account and provide a balanced picture of the potential pros and cons of EUCS. Semi-structured interviews were conducted with 17 health (policy) professionals and representatives of patient organisations about their views on carrier screening including a possible EUCS scenario. Stakeholders acknowledged the potential benefits of EUCS, but also expressed five main moral concerns: (1) Does EUCS respond to an urgent problem or population need? (2) Is it possible to offer couples both understandable and sufficient information about EUCS? (3) How will societal views on 'reproductive responsibility' change as a result of EUCS? (4) Will EUCS lead to a lower level of care for high-risk populations? (5) Will EUCS reinforce disability-based stigmatisation? While having the potential to overcome some moral limits inherent in traditional carrier screening, EUCS comes with moral challenges of its own. More research is needed to (further) anticipate the ethical and practical consequences of EUCS.
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