Evidence map›Paper›PMID 30742054›Full record

ArticleEuropean journal of human genetics : EJHG2019

Feasibility of couple-based expanded carrier screening offered by general practitioners.

Juliette Schuurmans, Erwin Birnie, Lieke M van den Heuvel, Mirjam Plantinga, Anneke Lucassen, Dorina M van der Kolk, Kristin M Abbott, Adelita V Ranchor, Agnes D Diemers, Irene M van Langen

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PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 3 pooled it
6.8field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 3 syntheses or guidelines pooled it, 68 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 2 countries.

Juliette SchuurmansDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands. j.schuurmans@umcg.nl.
Erwin BirnieDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Lieke M van den HeuvelDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Mirjam PlantingaDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Anneke LucassenClinical Ethics and Law, Faculty of Medicine, University of Southampton, Tremona Road, SO16 5YA, Southampton, UK.ORCID 0000-0003-3324-4338
Dorina M van der KolkDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Kristin M AbbottDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Adelita V RanchorDepartment of Health Psychology, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Agnes D DiemersDepartment of General Practice and Elderly Care, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
Irene M van LangenDepartment of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30.001, 9700, RB Groningen, The Netherlands.
University Medical Center Groningen · NLUniversity of Southampton · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Expanded carrier screening (ECS) aims to inform couples' reproductive choice, preferably before conception. As part of an implementation study in which trained general practitioners (GPs) offered a population-based ECS couple-test, we evaluated the feasibility of the test-offer and degree of participant informed choice (IC). Trained GPs from nine practices in the northern Netherlands invited 4295 female patients aged 18-40 to take part in couple-based ECS. Inclusion criteria were having a male partner, planning for children and not being pregnant. We evaluated the feasibility of the organizational aspects, GP competence and the content of the pre-test counselling. Participant satisfaction, evaluation of pre-test counselling and degree of IC were measured using a longitudinal survey. We explored GP experiences and their views on future implementation through semi-structured interviews. 130 consultations took place. All participating GPs were assessed by genetic professionals to be competent to conduct pre-test counselling. Most (63/108 (58%)) consultations took place within the planned 20 min (median 20, IQR 18-28). GPs considered couples' prior knowledge level an important determinant of consultation length. 91% of patients were (very) satisfied with the GP counselling. After pre-test counselling, 231/237(97%) participants had sufficient knowledge and 206/231(88%) had a positive attitude and proceeded with testing. Our pilot demonstrates that offering couple-based ECS through trained and motivated GPs is feasible. Future large-scale implementation requires a well-informed general public and a discussion about appropriate reimbursement for GPs and health care coverage for couples. Providing (more) test information pre-appointment may help reduce average consultation time.

Indexed as

Family CharacteristicsGenetic Carrier ScreeningFeasibility StudiesGeneral PractitionersGenetic CounselingGenetic TestingHumansInformed Consent

Identifiers

PMID30742054
PMCPMC6462008
OpenAlexW2912275793

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.