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BMC Health Services Research

, 17:146

Organization, structure and delivery of healthcare


BackgroundIn most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold transition in carrier screening: the expansion from screening one single disorder to many disorders simultaneously, and offering screening universally, regardless of ancestry. This study aims to identify general and population-specific barriers and needs reflected by stakeholders regarding the implementation of carrier screening in a changing landscape.

MethodsSeventeen semi-structured interviews were conducted with Dutch key stakeholders working in the practical and scientific field of carrier screening. The constellation approach was used to categorise barriers and needs into three levels: culture, structure and practice.

ResultsBarriers on a cultural level include: undecidedness about the desirability of carrier screening, and a lack of priority of screening in mainstream healthcare. On a structural level barriers included: need for organisational structures in healthcare for embedding carrier screening, need for guidelines, financial structures, practical tools for overcoming challenges during counselling, and a need for training and education of both professionals and the public. A lack of demand for screening by the public, and a need for a division of responsibilities were barriers on a practical level.

ConclusionThe absence of a collective sense of urgency for genetic carrier screening, a lack of organisational structures, and uncertainty or even disagreement about the responsibilities seem to be important barriers in the implementation of carrier screening. Stakeholders therefore suggest that change agents should be formally acknowledged to strategically plan broadening of current initiatives and attune different stakeholders.

KeywordsCarrier screening Expanded universal carrier screening Implementation Stakeholders Interviews Barriers Needs AbbreviationsAJAshkenazi Jewish

ARAutosomal recessive

CFCystic fibrosis

EUCSExpanded universal carrier screening



USUnited States

Electronic supplementary materialThe online version of this article doi:10.1186-s12913-017-2083-9 contains supplementary material, which is available to authorized users.

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Autor: Kim C.A. Holtkamp - Evelien M. Vos - Tessel Rigter - Phillis Lakeman - Lidewij Henneman - Martina C. Cornel


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