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Updated: Dec 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Susceptibility genetics of common conditions in clinical practice]
Mauro Turrini1, Jérôme Connault2, Catherine Bourgain3
1Université de Nantes, Maison des Sciences de l'Homme A. Guépin, 5 allée J. Berque, 44000 Nantes, France.
Abstract:
The genetic tests for "non-rare thrombophilias" (TNR) were introduced into clinical setting immediately after the identification of genetic variants in the mid-90s to predict and prevent venous thromboembolism (VTE). Although being a rare example of a genetic test of susceptibility for complex diseases that has been integrated in medical routine, it is the most widespread post-natal genetics inquiry in France nowadays. Yet, determining whom to test and how to use the results is still controversial. This article outlines the trajectory of its clinical regulation and illustrates the importance of the context of use to understand its diffusion. This analysis is intended to feed a more general reflection on the issues raised by the clinical integration of genetic surveys for common diseases, particularly with regard to the clinical utility of a test (statistical vs. biological), the subjects to be tested (the case index and/or her/his relatives), and the criteria underlying access to these tests (modalities of medico-economic assessment).
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