ArticleEuropean journal of human genetics : EJHG2023
Societal implications of expanded universal carrier screening: a scoping review.
Article 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 15 papers.
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Who cites it
15 citing papers in PubMed.
- Carrier screening and genetic counseling in high-consanguinity populations: a narrative review.Journal of community genetics · 2026Review
- Knowledge, acceptance, and willingness to pay for expanded carrier screening among obstetric patients in China: Implications for genetic counseling practice.Journal of genetic counseling · 2026Article
- Facing suffering honestly: On severity, utility, and the public good in reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Article
- Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.Journal of community genetics · 2026Article
- More of the same? Israel's expanded carrier screening for cystic fibrosis.European journal of human genetics : EJHG · 2025Article
- Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2025Article
- Prospective parents' views on reproductive genetic carrier screening: "You know better, you do better".Journal of genetic counseling · 2025Article
- Review
- Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.European journal of human genetics : EJHG · 2025Article
- Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.European journal of human genetics : EJHG · 2025Article
- Review
- Primary care professionals' views on population-based expanded carrier screening: an online focus group study.Family practice · 2024Article
- Class II Transactivator Gene (The application of clinical genetics · 2024Article
- New year, new genes.European journal of human genetics : EJHG · 2023Article
- Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening.European journal of human genetics : EJHG · 2023Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Carrier screening aims to identify couples at risk of conceiving children with a recessive condition. Until recently, carrier screening was primarily offered ancestry-based. Technological advances now facilitate expanded universal carrier screening (EUCS). This scoping review aimed to map EUCS's potential societal implications based on both theoretical studies and empirical evidence. To this aim, we performed a CoCites search to find relevant articles, including articles describing carrier screening for at-risk populations, based on five selected query articles. Forty articles were included. Three main potential societal implications were identified: (1) unwanted medicalization, (2) stigmatization and discrimination of carriers and people affected with the conditions screened and (3) challenges in achieving equitable access. Within these themes, potential positive implications are reduction of ethnic stigmatization in ancestry-based offers and increased equity. Potential negative implications are reinforcement of disability-based stigmatization, less possibility for developing expertise in healthcare and societal pressure to partake in screening. Empirical evidence on all these implications is however scarce. In conclusion, both positive and negative potential societal implications of implementing EUCS, primarily theoretical, were identified, even in at-risk groups where evidence is mostly lacking. Empirical research in EUCS pilots is needed to identify which societal implications are likely to occur and therefore should be overcome when implementing EUCS.
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