Evidence map›Paper›PMID 33533079›Full record

SynthesisPrenatal diagnosis2021

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.

Stephanie Best, Janet Long, Tahlia Theodorou, Sarah Hatem, Rebecca Lake, Alison Archibald, Lucinda Freeman, Jeffrey Braithwaite

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Prenatal diagnosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

23 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  10. Contextual factors of implementing APOL1 genetic testing into living kidney donor clinical evaluation.Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2025
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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

8 authors.

Stephanie BestAustralian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-1107-8976
Janet LongAustralian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-0553-682X
Tahlia TheodorouAustralian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0002-0011-6383
Sarah HatemAustralian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.
Rebecca LakeAustralian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.
Alison ArchibaldVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.ORCID https://orcid.org/0000-0002-4496-8262
Lucinda FreemanCentre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
Jeffrey BraithwaiteAustralian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.ORCID https://orcid.org/0000-0003-0296-4957

Funding

Australian Genomics Health Futures Mission Australian Genomics Health Futures Mission [GHFM73Australian Government's Medical Research Future Fund as part of the Australian Genomics Health Futures Mission [Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission) GHFM73390 (MRFF- G-MM)]
6 · The paper itself

Abstract

backgroundAs interest in reproductive genetic carrier screening rises, with increased availability, the role of healthcare practitioners is central in guiding uptake aligned with a couples' values and beliefs. Therefore, practitioners' views on implementation are critical to the success of any reproductive genetic carrier screening programme.

aimTo explore healthcare practitioners' perceptions of the barriers and enablers to implementation. MATERIALS &

methodsWe undertook a systematic review of the literature searching seven databases using health practitioner, screening and implementation terms returning 490 articles.

resultsScreening led to the inclusion of 26 articles for full-text review. We found three interconnected themes relating to reproductive genetic carrier screening: (i) use and impact, (ii) practitioners' beliefs and expectations and (iii) resources. DISCUSSION: Barriers and enablers to implementation were present within each theme and grouping these determinants by (a) community for example lack of public interest, (b) practitioner for example lack of practitioner time and (c) organisation for example lack of effective metrics, reveals a preponderance of practitioner barriers and organisational enablers. Linking barriers with potential enablers leaves several barriers unresolved (e.g., costs for couples) implying additional interventions may be required.

conclusionFuture research should draw on the findings from this study to develop and test strategies to facilitate appropriate offering of reproductive genetic carrier screening by healthcare practitioners.

Indexed as

PerceptionAdultAttitude of Health PersonnelFemaleGenetic Carrier ScreeningHealth PersonnelHumansMaleMiddle AgedQualitative ResearchReproductive Health

Identifiers

PMID33533079
PMCPMC8252081

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.