Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

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

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Background: In 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. Methods: Seventeen 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. Results: Barriers 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. Conclusion: The 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.

Original languageEnglish
Article number146
JournalBMC Health Services Research
Volume17
Issue number1
DOIs
Publication statusPublished - 16 Feb 2017

Cite this

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title = "Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape",
abstract = "Background: In 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. Methods: Seventeen 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. Results: Barriers 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. Conclusion: The 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.",
keywords = "Barriers, Carrier screening, Expanded universal carrier screening, Implementation, Interviews, Needs, Stakeholders",
author = "Holtkamp, {Kim C.A.} and Vos, {Evelien M.} and Tessel Rigter and Phillis Lakeman and Lidewij Henneman and Cornel, {Martina C.}",
year = "2017",
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language = "English",
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Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. / Holtkamp, Kim C.A.; Vos, Evelien M.; Rigter, Tessel; Lakeman, Phillis; Henneman, Lidewij; Cornel, Martina C.

In: BMC Health Services Research, Vol. 17, No. 1, 146, 16.02.2017.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape

AU - Holtkamp, Kim C.A.

AU - Vos, Evelien M.

AU - Rigter, Tessel

AU - Lakeman, Phillis

AU - Henneman, Lidewij

AU - Cornel, Martina C.

PY - 2017/2/16

Y1 - 2017/2/16

N2 - Background: In 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. Methods: Seventeen 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. Results: Barriers 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. Conclusion: The 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.

AB - Background: In 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. Methods: Seventeen 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. Results: Barriers 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. Conclusion: The 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.

KW - Barriers

KW - Carrier screening

KW - Expanded universal carrier screening

KW - Implementation

KW - Interviews

KW - Needs

KW - Stakeholders

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M3 - Article

VL - 17

JO - BMC Health Services Research

JF - BMC Health Services Research

SN - 1472-6963

IS - 1

M1 - 146

ER -