Evidence map›Paper›PMID 33712027›Full record

ArticleOrphanet journal of rare diseases2021

First French study relative to preconception genetic testing: 1500 general population participants' opinion.

Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain, Bertrand Isidor

Abstract read
In one paragraph

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–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

7 citing papers in PubMed.

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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

10 authors.

Valérie BonneauDépartement de Médecine Générale, Université de Nantes, 44000, Nantes, France.
Mathilde NizonService de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093, Nantes Cedex 1, France.
Xenia LatypovaService de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093, Nantes Cedex 1, France.
Aurélie GaultierPlateforme de Méthodologie Et de Biostatistique, Centre Hospitalier Universitaire de Nantes, Nantes, France.
Eugénie HoarauDépartement de Médecine Générale, Université de Nantes, 44000, Nantes, France.
Stéphane BézieauService de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093, Nantes Cedex 1, France.
Guy MinguetMines-Nantes School, 44300, Nantes, France.
Mauro TurriniUniversité de Nantes, Droit et Changement Social UMR 6297, Maison Des Sciences de L'Homme Ange Guépin, Nantes, France.
Maud Jourdain *Département de Médecine Générale, Université de Nantes, 44000, Nantes, France.
Bertrand Isidor *Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093, Nantes Cedex 1, France. bertrand.isidor@chu-nantes.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundUntil very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire.

resultsAmong the 1568 participants, 91% are favorable to preconception genetic tests and 57% declare to be willing to have the screening if the latter is available. A medical prescription by a family doctor or a gynecologist would be the best way to propose the test for 73%, with a reimbursement from the social security insurance. However, 19% declare not to be willing to use the test because of their ethic or moral convictions, and the fear that the outcome would question the pregnancy. Otherwise, most participants consider that the test is a medical progress despite the risk of an increased medicalization of the pregnancy.

conclusionThis first study in France highlights a global favorable opinion for the preconception genetic carrier testing under a medical prescription and a reimbursement by social security insurance. Our results emphasize as well the complex concerns underpinned by the use of this screening strategy. Therefore, the ethical issues related to these tests include the risk of eugenic drift mentioned by more than half of the participants.

Indexed as

FamilyGenetic TestingChildEthnicityFemaleFranceGenetic Carrier ScreeningGenetic CounselingHumansPregnancyExpanded carrier screeningPreconception genetic testingReproductive medicine

Identifiers

PMID33712027
PMCPMC7955630

What OpenQuestion holds

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Registered trials

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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.