Evidence map›Paper›PMID 33907318›Full record

ArticleEuropean journal of human genetics : EJHG2022

How do non-geneticist physicians deal with genetic tests? A qualitative analysis.

Laurent Pasquier, Guy Minguet, Sylvie Moisdon-Chataigner, Pascal Jarno, Philippe Denizeau, Ginette Volf, Sylvie Odent, Grégoire Moutel

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. 2022: the year that was in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2023
    Article
  10. Article
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.

Laurent PasquierService de Génétique Clinique, Centre Référence "Déficiences Intellectuelles de causes rares" (CRDI), Centre Hospitalier Universitaire Rennes, 16 boulevard de Bulgarie, F-35203, Rennes, France. laurent.pasquier@chu-rennes.fr.ORCID 0000-0003-3985-1286
Guy MinguetInstitut Mines Télécom Atlantique, Département Sciences Sociales et de Gestion, 4 rue Alfred Kastler, F-44307, Nantes Cedex 3, France.
Sylvie Moisdon-ChataignerLaboratoire IODE, Faculté de Droit, Université Rennes 1, 9 Rue Jean Macé, CS 54203, Rennes, France.
Pascal JarnoService de Santé Publique, Centre Hospitalier Universitaire Rennes, F-35203, Rennes, France.
Philippe DenizeauService de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes)-UMR 6290, Centre Hospitalier Universitaire Rennes, 16 boulevard de Bulgarie, F-35203, Rennes, France.ORCID 0000-0003-0218-8134
Ginette VolfDélégation Régionale Bretagne, Alliance Maladies Rares, Rennes, France.
Sylvie OdentService de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes)-UMR 6290, Centre Hospitalier Universitaire Rennes, 16 boulevard de Bulgarie, F-35203, Rennes, France.
Grégoire MoutelINSERM U1086, Anticipe, Normandie Université, 3 avenue du Général Harris, F-14076, Caen, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing is accepted to be a common practice in many medical specialties. These genetic tests raise issues such as respect for basic rights, how to handle results and uncertainty and how to balance concerns for medical confidentiality with the rights of third parties. Physicians need help to deal with the rapid development of genomic medicine as most of them have received no specific training on the medical, ethical, and social issues involved. Analyzing how these professionals integrate genetic testing into the patient-provider relationship is essential to paving the way for a better use of genomics by all. We conducted a qualitative study comprising a series of focus groups with 21 neurologists and endocrinologists about their genetic testing practices in the western part of France. The interviews were transcribed and analyzed for major themes. We identified an automated care management procedure of genetic testing that affects patient autonomy. The simple fact of having a written consent cannot justify a genetic test given the stakes associated with the results. We also suggest orienting practices toward a systemic approach using a multidisciplinary team or network to provide resources for dealing with uncertainties in interpreting results or situations that require additional technical or clinical skills and, if necessary, to allow for joint consultations with both a geneticist and a non-geneticist medical specialist.

Indexed as

PhysiciansFranceGenetic TestingHumansProfessional-Patient RelationsQualitative Research

Identifiers

PMID33907318
PMCPMC8904857

What OpenQuestion holds

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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.