ArticleEuropean journal of public health2017
Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Article in European journal of public health, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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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.
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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
24 citing papers in PubMed, 33 citations in OpenAlex.
- Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review.Genetics in medicine open · 2026Review
- Stakeholder experiences and perspectives of genetic and genomic screening procedures in the Gulf Cooperation Council (GCC) region: a qualitative exploration.Journal of community genetics · 2025Article
- Review
- Scaling-up and future sustainability of a national reproductive genetic carrier screening program.NPJ genomic medicine · 2023Article
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Dynamics of reproductive genetic technologies: Perspectives of professional stakeholders.PloS one · 2022Article
- Ethics of Reproductive Genetic Carrier Screening: From the Clinic to the Population.Public health ethics · 2021Article
- Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes.European journal of human genetics : EJHG · 2021Article
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.Journal of genetic counseling · 2021Article
- Article
- Ethical issues in reproductive genetic carrier screening.The Medical journal of Australia · 2021Article
- Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.European journal of human genetics : EJHG · 2020Article
- The future of cystic fibrosis care: a global perspective.The Lancet. Respiratory medicine · 2020Review
- Article
- Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes.Journal of assisted reproduction and genetics · 2019Article
- Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation.Journal of community genetics · 2019Article
- Recent developments in genetic/genomic medicine.Clinical science (London, England : 1979) · 2019Review
- Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.Frontiers in public health · 2019Review
- Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.European journal of human genetics : EJHG · 2018Article
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications.European journal of human genetics : EJHG · 2018Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Carrier screening for autosomal recessive disorders aims to facilitate reproductive decision-making by identifying couples with a 1-in-4 risk in every pregnancy of having an affected child. Except for a few countries or regions, carrier screening is not widely offered and is mostly ancestry-based. Technological advances enable carrier screening for multiple diseases simultaneously allowing universal screening regardless of ancestry (population-based expanded carrier screening). It is important to study how this can be successfully implemented. This study therefore aims to identify critical factors involved in successful implementation, from a user perspective, by learning from already implemented initiatives. Methods: Factors associated with successful implementation were identified by: (i) a literature review and (ii) two case studies; studying experiences with carrier screening in two high-risk communities (a Dutch founder population and the Ashkenazi Jewish population), including a survey among community members. Results: Factors identified were familiarity with (specific) genetic diseases and its availability, high perceived benefits of screening (e.g. screening avoids much suffering), acceptance of reproductive options, perceived risk of being a carrier and low perceived social barriers (e.g. stigmatization). In contrast to the Jewish community, the initial demand for screening in the Dutch founder population did not entirely come from the community itself. However, the large social cohesion of the community facilitated the implementation process. Conclusion: To ensure successful implementation of population-based expanded carrier screening, efforts should be made to increase knowledge about genetic diseases, create awareness and address personal benefits of screening in a non-directive way.
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Registered trials
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.