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

摘要: Abstract The use of individual genomic risk factors to predict the onset common diseases is one main promises personalized medicine. This paper aims contribute understanding how genetic susceptibility shapes clinical practice, by drawing on non-rare thrombophilia (NRT) tests, a diagnostic technique for congenital predisposition venous thromboembolism (VTE). Adopting diachronic approach, we describe trajectory NRT usage and its professional regulation since discovery variants in mid-90s. Empirical materials combine biomedical literature, guidelines recommendations, interviews with key actors. We show rapid adoption these tests clinicians, followed controversy over their utility after epidemiological evaluations test demonstrated low capacity VTE carriers. Indeed, alternative views what should count as led heterogeneous regulations. Some clinicians favoured statistical individualized predictions proposed cessation prescription management VTE. Others praised context-specific values that integrated connection aetiology implications prevention healthy relatives, therefore adopted less stringent regulatory principles. identify three features are central this trajectory: two epistemological interpretations - molecular determinant disease multifactorial factor alternatively aligned or opposed each other; connections established between different contexts through correlated possibility proposing preventive actions “for relatives; centrality tests” various regarding decisions about pharmacological treatment.