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Managing uncertainty in genetic prevention: medical decision and thrombophilia in a hospital setting Volume 39, issue 3, Septembre 2021

Authors
* Sociologue, Instituto de Políticas y Bienes Público (IPP), Consejo Superior de Investigaciones Científicas (CSIC), Calle de Albasanz, 26-28, 28037 Madrid, Espagne
** Sociologue et généticienne, Centre de Recherche, Médecine, Sciences, Santé, Santé Mentale, Société (CERMES3), INSERM U988, CNRS UMR8211, Université de Paris, École des Hautes Études en Sciences Sociales, Site CNRS, 7 rue Guy Moquet, 94800 Villejuif, France

In this paper, we look at how clinicians integrate genetic testing for prevention into their routine hospital activities, based on a study of thrombophilia testing (TNR). These genetic tests, used for the prevention of venous thromboembolic embolism (VTE), are widely used despite guidelines that call for restricted prescription, strictly subordinated to the clinic. We show that while the prevention of VTE generates uncertainties traditionally associated with prediction in the clinics, the genetic nature of the tests complexifies the type of uncertainty. Because they can identify a biological abnormality, the tests can be interpreted as a molecular explanation for VTE, even though their poor predictive ability undermines their clinical utility. This ontological duality of the tests and the resulting affordances –both a biological factor identifying a molecular cause AND a statistical risk factor quantifying a low probability of recurrence– increases the uncertainties, which are both more frequent and more troublesome. The professional investment required to implement the guidelines is substantial. While it relies on the work of clinical collectives, it also integrates a new division of labor with the emergence of a group of clinical specialists, who are working to ensure that an alliance between clinical and statistical reasoning takes precedence over a molecular reasoning. This additional investment in professional regulation reflects the exceptional nature of these tests, with respect to other non-genetic risk factors.