Clinical Epidemiology and Ageing

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

Derbez B, Z Haffaf E, Galactéros F, de Montgolfier S Rev Epidemiol Sante Publique. 2021;69(1):30-38.

<p><b>BACKGROUND: </b>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.</p><p><b>METHODS: </b>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.</p><p><b>RESULTS: </b>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.</p><p><b>CONCLUSION: </b>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.</p>

MeSH terms: Canada; France; Genetic Diseases, Inborn; Humans; Physicians, Family; Primary Health Care
DOI: 10.1016/j.respe.2018.07.003