Genomic susceptibility in practice: The regulatory trajectory of non-rare thrombophilia (NRT) genetic tests in the clinical management of venous thrombo-embolism (VTE).

Social Science & Medicine
Mauro Turrini, Catherine Bourgain

Abstract

The use of individual genomic risk factors to predict the onset of common diseases is one of the main promises of personalized medicine. This paper aims to contribute to the understanding of how genetic susceptibility shapes clinical practice, by drawing on non-rare thrombophilia (NRT) tests, a common diagnostic technique for congenital predisposition to venous thromboembolism (VTE). Adopting a diachronic approach, we describe the trajectory of NRT usage and its professional regulation since the discovery of NRT variants in the mid-90s. Empirical materials combine biomedical literature, guidelines and recommendations, and interviews with key actors. We show a rapid adoption of these tests by clinicians, followed by a controversy over their clinical utility after epidemiological evaluations of NRT test demonstrated a low capacity to predict VTE in individual carriers. Indeed, alternative views on what should count as clinical utility led to heterogeneous professional regulations. Some clinicians favoured statistical and individualized predictions of risk and proposed a cessation of test prescription in the management of VTE. Others praised the context-specific clinical values of the tests that integrated their connection with ae...Continue Reading

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Citations

May 27, 2020·Médecine sciences : M/S·Mauro TurriniCatherine Bourgain

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