Susceptibility in the clinic

Practice, regulation, and tendencies of genetic predisposition to Venous Thrombo-Embolism and to Ovarian and Breast Cancer

Susceptibility in the clinic. Practice, regulation, and tendencies of genetic predisposition to Venous Thrombo-Embolism and to Ovarian and Breast Cancer.

From a clinical perspective, the application of genetic susceptibility testing has been extremely cautious due both to the delicate status of genetic information and to its controversial clinical utility (Turrini and Bourgain 2020). The ability of genetics to predict the development of future diseases or health conditions depends on the relentless work that medical professionals do to produce reliable predictions, which is still far from facilitating the integration of genetic susceptibility into clinical settings (Bourgain and Beaudevin 2020). The studies that have tackled this question in different contexts have mainly described situations in which practitioners have resisted (Hall 2004) or marginalized (Will, Armstrong, and Marteau 2010) changes to their entrenched ways of thinking and working that the adoption of susceptibility genetic testing would have entailed.

This project will compare two very different, and yet frequent testing of genetic susceptibility: the investigation of BRCA1 and BRCA2 variants associated with early onset and aggressive breast and ovarian cancer and that of non-rare thrombophilia (NRT) associated with venous thromboembolism. The latter test is accessible and frequent; yet its clinical utility has been increasingly contested in the last years. While NRT testing is progressively being discarded as a useless tool of prediction and tends to be replaced by other biological risk factors, like D-Dimer, or even behaviors (smoking) or physical traits (obesity, age), it is still largely offered to pregnant women deemed at risk of venous thromboembolism. It has been even proposed as a screening program for all women before the first prescription of hormonal contraception, to reduce the rare, but very severe thrombotic adverse reactions of these medicaments. In this case, genetic testing incorporates a cultural struggle over the regulation of contraception. On the other hand, the variants of the genes BRCA1 and BRCA2 have a much stronger predictive capacity, leading to very invasive preventive treatments, including chemotherapy and surgical interventions (mastectomy or ovarian removal). At the same time, recent research in this sector has shown a wide set of variants spanning very different degree of predictive capacity, and some of them are experimented as a way to personalize the screening routine for breast cancer. Comparing the clinical regulation of these tests in different national contexts will enlarge and give a comparative, international approach to each perspective.


Bourgain, Catherine, and Claire Beaudevin. 2020. « Au-delà de la technologie : travailler à la fiabilité de la prédiction génétique ». Médecine et Philosophie 2: 34‑39.

Hall, Edward. 2004. « Spaces and networks of genetic knowledge making: The “geneticisation” of heart disease ». Health and Place 10 (4): 311‑18.

Turrini, Mauro, and Catherine Bourgain. 2020. « 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 and Medicine, mars, 112903.

Will, Catherine M., David Armstrong, and Theresa M. Marteau. 2010. « Genetic unexceptionalism: Clinician accounts of genetic testing for familial hypercholesterolaemia ». Social Science and Medicine 71 (5): 910‑17.