Evidence map›Paper›PMID 28209157›Full record

ArticleBMC health services research2017

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

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC health services research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 3 pooled it
2.7field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 50 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Kim C A HoltkampDepartment of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057 (BS7 A-509), 1007 MB, Amsterdam, The Netherlands. k.holtkamp@vumc.nl.
Evelien M VosDepartment of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057 (BS7 A-509), 1007 MB, Amsterdam, The Netherlands.
Tessel RigterDepartment of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057 (BS7 A-509), 1007 MB, Amsterdam, The Netherlands.
Phillis LakemanDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Lidewij HennemanDepartment of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057 (BS7 A-509), 1007 MB, Amsterdam, The Netherlands.
Martina C CornelDepartment of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057 (BS7 A-509), 1007 MB, Amsterdam, The Netherlands.
Amsterdam UMC Location VUmc · NLAcademic Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Genetic TestingHeterozygoteAttitude of Health PersonnelAttitude to HealthDelivery of Health CareGenetic Carrier ScreeningGenetic Diseases, InbornHumansMass ScreeningMotivationNeeds AssessmentNetherlandsBarriersCarrier screeningExpanded universal carrier screeningImplementationInterviewsNeedsStakeholders

Identifiers

PMID28209157
PMCPMC5314610
OpenAlexW2587813563

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.