[Prevention of genetic diseases : the return of the family practitioner ?]

Prévention des maladies génétiques. Le retour du médecin de famille ?
Family communication General practitioners Genetics Génétique Information de la parentèle Médecin généraliste Prevention Prévention

Journal

Revue d'epidemiologie et de sante publique
ISSN: 0398-7620
Titre abrégé: Rev Epidemiol Sante Publique
Pays: France
ID NLM: 7608039

Informations de publication

Date de publication:
Feb 2021
Historique:
received: 05 11 2017
revised: 14 06 2018
accepted: 16 07 2018
pubmed: 17 9 2018
medline: 16 10 2021
entrez: 17 9 2018
Statut: ppublish

Résumé

Information to kin is one of the major ethical problems of the new genetics. In France, the revised bioethics law in 2011 created the possibility for patients to authorize professionals, under certain conditions, to directly contact their relatives at risk. Beyond this, other actors, such as GPs, could however play a role in this process. Our article is based on an ethnographic-type sociological study by observations and semi-structured interviews with patients (n=59) and genetic professionals (n=16) that took place from 2014 to 2016 in three genetic hospital wards in France and Canada. It focuses particularly on genetic predispositions to breast and ovarian cancers as well as genetic hemochromatosis. Because of its position as a primary care specialist, the general practitioner can play a decisive role in the process of informing relatives about genetic disorders. Upstream of the genetic test, the generalist, thanks to his knowledge of the family context of his patients, can play a referral role towards a specialized consultation. Downstream, it can also ensure a more effective follow-up of the information procedures undertaken by its patients thanks to the medical follow-up that it carries out. The data collected during our study highlight the unprecedented place that could be that of the general practitioner in the field of prevention in genetics. At the articulation between primary care and highly specialized care, it is the figure of the "family" doctor who seems to be called here to be renewed by genetics.

Sections du résumé

BACKGROUND BACKGROUND
Information to kin is one of the major ethical problems of the new genetics. In France, the revised bioethics law in 2011 created the possibility for patients to authorize professionals, under certain conditions, to directly contact their relatives at risk. Beyond this, other actors, such as GPs, could however play a role in this process.
METHODS METHODS
Our article is based on an ethnographic-type sociological study by observations and semi-structured interviews with patients (n=59) and genetic professionals (n=16) that took place from 2014 to 2016 in three genetic hospital wards in France and Canada. It focuses particularly on genetic predispositions to breast and ovarian cancers as well as genetic hemochromatosis.
RESULTS RESULTS
Because of its position as a primary care specialist, the general practitioner can play a decisive role in the process of informing relatives about genetic disorders. Upstream of the genetic test, the generalist, thanks to his knowledge of the family context of his patients, can play a referral role towards a specialized consultation. Downstream, it can also ensure a more effective follow-up of the information procedures undertaken by its patients thanks to the medical follow-up that it carries out.
CONCLUSION CONCLUSIONS
The data collected during our study highlight the unprecedented place that could be that of the general practitioner in the field of prevention in genetics. At the articulation between primary care and highly specialized care, it is the figure of the "family" doctor who seems to be called here to be renewed by genetics.

Identifiants

pubmed: 30219572
pii: S0398-7620(18)31317-8
doi: 10.1016/j.respe.2018.07.003
pii:
doi:

Types de publication

Journal Article

Langues

fre

Sous-ensembles de citation

IM

Pagination

30-38

Informations de copyright

Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Auteurs

B Derbez (B)

LABERS, université de Bretagne occidentale, 22, rue Camille Desmoulins, 29200 Brest, France. Electronic address: bderbez@gmail.com.

Z El Haffaf (Z)

Service de médecine génique, CRCHUM, 900, rue Saint-Denis, Montréal (Québec) H2X0A9, Canada.

F Galactéros (F)

UMGGR, université Paris-Est Créteil, AP-HP, 51, avenue du Maréchal de Lattre-de-Tassigny, 94010 Créteil, France.

S de Montgolfier (S)

Iris, université Paris-Est Créteil, 54, boulevard Raspail, 75006 Paris, France.

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Classifications MeSH