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A retrospective survey was conducted in hematologic centres of the Rete Ematologica Lombarda (REL) on 529 older AML patients seen between 2020–2022. Compared to 2008–2016, the use of intensive chemotherapy (ICT) decreased from 40% to 18.1% and of hypomethylating agents (HMAs) from 19.5% to 13%, whereas the combination of Venetoclax/HMA, initially not available, increased from 0% to 36.7%. Objective treatment-specific fitness criteria proposed by SIE/SIES/GITMO in 2013 allow an appropriate choice between ICT and HMAs by balancing their efficacy and toxicity. Venetoclax/HMA, registered for patients unfit to ICT, has a unique toxicity profile because of prolonged granulocytopenia and increased infectious risk. Aiming at defining specific fitness criteria for the safe use of Venetoclax/HMA, a preliminary investigation was conducted among expert REL hematologists, asking for modifications of SIE/SIES/GITMO criteria they used to select candidates for Venetoclax/HMA. While opinions among experts varied, a general consensus emerged on restricting SIE/SIES/GITMO criteria for ICT-unfit patients to an age limit of 80–85, cardiac function > 40%, and absence of recurrent lung infections, bronchiectasis, or exacerbating COPD. Also, the presence of an adequate caregiver was considered mandatory. Such expert opinions may be clinically useful and may be considered when treatment-specific fitness criteria are updated to include Venetoclax/HMA.

The French pill scare is usually presented as a “media debate” triggered by the case of Marion Larat, a young woman who suffered a stroke attributed to the pill she was taking. This article intends to focus on a practice that preceded, accompanied, and followed this health scare: the publication of online testimonies of thrombotic reactions posted on the website of the French Association of Victims of Pulmonary Embolism and Stroke Associated with Hormonal Contraception (Avep). Through a discourse analysis, we intend to analyze these online public self-reports as an activist practice aimed at criticizing the dominant medical discourse on contraception. Four discursive frames emerged: unpreparedness of women and doctors, denial of blame and search for the cause, breaking the silence and building solidarity, and collective action. The first two frames concern the process women put in place to obtain the right to speak about and criticize a medical practice. The right to speak is achieved through a concise narrative style focusing on facts, bodily manifestations, and risk factors. The second pair refers to the formation of pill victims as subjects with an ambivalent status and ephemeral agency. The testimonies build what we call “lone solidarity”, that is, the creation of a social bond and action around a common experience of witnessing medical injustice that develops without any exchange between members. This proves to be inclusive and viral, but at the same time fiercely anti-representational with respect to political struggles or social identification.

The method of scientometrics can be extremely useful when combined with the qualitative study of technoscience widely practiced by science and technology studies. This chapter intends to integrate a qualitative study of the regulation of testing of two genetic variants (called nonrandom thrombophilias [NRT]), associated with susceptibility to generate blood clots in the venous system, or venous thromboembolism (VTE). NRTs are of particular interest because they were identified in the mid-1990s and have nurtured and participated in the promise of predictive medicine based on individualized risk profiles. The integration of qualitative and quantitative methods occurs at two levels. In the first, the qualitative survey previously conducted provides the tools to orient the scientometric analysis and direct its results. In the second, the maps obtained will be compared and integrated through interviews with several key figures from different European countries.

[Background] The debilitating effects of noncommunicable diseases (NCDs) and the accompanying chronic inflammation represent a significant obstacle for the sustainability of our development, with efforts spreading worldwide to counteract the diffusion of NCDs, as per the United Nations Sustainable Development Goals (SDG 3). In fact, despite efforts of varied intensity in numerous directions (from innovations in biotechnology to lifestyle modifications), the incidence of NCDs remains pandemic. The present work wants to contribute to addressing this major concern, with a specific focus on the fragmentation of medical approaches, via an interdisciplinary analysis of the medical discourse, i.e. the heterogenous reporting that biomedical scientific literature uses to describe the anti-inflammatory therapeutic landscape in NCDs. The aim is to better capture the roots of this compartmentalization and the power relations existing among three segregated pharmacological, experimental and unstandardized biomedical approaches to ultimately empower collaboration beyond medical specialties and possibly tap into a more ample and effective reservoir of integrated therapeutic opportunities., [Method] Using rheumatoid arthritis (RA) as an exemplar disease, twenty-eight articles were manually translated into a nine-dimensional categorical variable of medical socio-anthropological relevance, relating in particular (but not only) to legitimacy, temporality and spatialization. This digitalized picture (9 x 28 table) of the medical discourse was further analyzed by simple automated learning approaches to identify differences and highlight commonalities among the biomedical categories., [Results] Interpretation of these results provides original insights, including suggestions to: empower scientific communication between unstandardized approaches and basic biology; promote the repurposing of non-pharmacological therapies to enhance robustness of experimental approaches; and align the spatial representation of diseases and therapies in pharmacology to effectively embrace the systemic approach promoted by modern personalized and preventive medicines. We hope this original work can expand and foster interdisciplinarity among public health stakeholders, ultimately contributing to the achievement of SDG3.

Cet article s’intéresse à la façon dont les cliniciens intègrent les tests génétiques pour la prévention dans leur activité de routine hospitalière, à partir d’une étude du bilan de thrombophilie (TNR). Ces tests génétiques, utilisés pour la prévention de la maladie thromboembolique veineuse (MTVE), sont très répandus en dépit de recommandations de bonnes pratiques qui appellent à en limiter l’usage, en les subordonnant strictement à la clinique. Nous montrons que si la prévention de la MTEV génère des incertitudes classiquement associées à la prédiction clinique, la dimension génétique des tests complexifie la nature de ces incertitudes. Parce que les TNR caractérisent une anomalie biologique, elles peuvent être interprétées comme explication moléculaire de la survenue d’une MTEV, alors même que leur faible capacité à la prédire met à mal leur utilité clinique. Cette dualité ontologique des tests et la double affordance qui en résulte – à la fois facteur biologique permettant de proposer une cause moléculaire ET facteur de risque statistique permettant de chiffrer une probabilité de récidive faible – amplifient les incertitudes, à la fois plus fréquentes et plus inconfortables. L’investissement professionnel déployé pour appliquer les recommandations est particulièrement lourd. S’il mobilise le travail de collectifs cliniques, il intègre également une nouvelle division du travail avec l’émergence d’un groupe de cliniciens spécialistes, qui s’emploie à faire primer une alliance entre raison clinique et raison statistique sur une raison moléculaire. Ce surcroît d’investissement dans la régulation professionnelle témoigne du caractère exceptionnel de ces tests, au regard d’autres facteurs de risque non génétiques.

Digital relations are deeply transforming our lives : from the nature of political participation to the relationship between digital and non-digital environments ; from the reorganization of the public sphere to the ethics of responsibility, transparency or inclusiveness. We are witnessing fundamental changes in the infrastructures of democracy and the emergence of new forms of digital citizenship.

Personalized medicine (PM) moves at the same pace of data and technology and calls for important changes in healthcare. New players are participating, providing impulse to PM. We review the conceptual foundations for PM and personalized healthcare and their evolution through scientific publications where a clear definition and the features of the different formulations are identifiable. We then examined PM policy documents of the International Consortium for Personalised Medicine and related initiatives to understand how PM stakeholders have been changing. Regional authorities and stakeholders have joined the race to deliver personalized care and are driving toward what could be termed as the next personalized healthcare. Their role as a key stakeholder in PM is expected to be pivotal.

Non-rare thrombophilias (NRT) are hereditary predispositions to thromboembolism, the most severe side-effect of hormonal contraception. In the mid-1990s, the identification of NRT stirred up a controversy over the possibility of investigating these genetic variants in women wishing to use contraception. Appraising how to handle this test led the medical profession to reconfigure the risk visibility on hormonal contraception. Through a review of scientific literature, this paper reconstructs the debate over whether and how NRT genetic tests should enter the distribution system of pharmacological contraception. The main arguments concern their epidemiological, social, economic, and clinical consequences of these risk factors. We analyze this debate as a process consisting in shaping the risk visibility. To those who opt for selective thrombophilia screening, this test should become a part of the medical decision-making process, and its visibility should be kept under medical control to protect contraception safety. To advocates of universal or “extended” screening, NRT visibility becomes a moral/legal obligation, and the test a valuable, if not mandatory, means to assure contraception safety. Risk visibility reveals assumptions about medical power, women’s responsibility, and drug safety, and points to an appraisal process as an ideal field to explore political and epistemological implications of screening.

Non-rare thrombophilia (NRT) are hereditary predispositions to thromboembolism, the most severe side effect of combined hormonal contraception. In the mid-1990s, the identification of NRT stirred up a controversy over the possibility of investigating these genetic variants in women wishing to use contraception. Through a review of literature, this article reconstructs the debate over whether and how this genetic test should be prescribed as a way to reconfigure the risk visibility on pharmacological contraception. The main arguments identified concern the epidemiological, social, economic and clinical aspects of the test. In a context where the overall thrombotic risk for hormonal contraception is largely invisible, the genetic tests turn to embody the thrombotic risk itself. Those who opt for selective screening argue that a better estimation of risk implies a test prescription embed in a global medical assessment of women's individual risk. To advocates of universal or ‘extended’ screening, the tests are valuable tools to inform women on the thrombotic risk and, as such, appraised as a moral/legal obligation, whatever their predictive power. Risk visibility thus appears as an insightful concept to analyse a complex setting associating clinical, political, social and cultural considerations that touches upon medical power, women's responsibility and drug safety

[Background] Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire., [Results] Among the 1568 participants, 91% are favorable to preconception genetic tests and 57% declare to be willing to have the screening if the latter is available. A medical prescription by a family doctor or a gynecologist would be the best way to propose the test for 73%, with a reimbursement from the social security insurance. However, 19% declare not to be willing to use the test because of their ethic or moral convictions, and the fear that the outcome would question the pregnancy. Otherwise, most participants consider that the test is a medical progress despite the risk of an increased medicalization of the pregnancy., [Conclusion] This first study in France highlights a global favorable opinion for the preconception genetic carrier testing under a medical prescription and a reimbursement by social security insurance. Our results emphasize as well the complex concerns underpinned by the use of this screening strategy. Therefore, the ethical issues related to these tests include the risk of eugenic drift mentioned by more than half of the participants.

Introduit au lendemain de l’identification des « thrombophilies non rares » (TNR), au milieu des années 1990 afin de prédire et de prévenir la maladie thromboembolique veineuse (MTEV), le bilan génétique pour ces thrombophilies est un exemple assez rare de test génétique de susceptibilité pour une maladie complexe, à avoir franchi le pas d’un véritable usage de routine en clinique. Bien que ce test soit le plus répandu des tests de génétique post-natale en France, son usage (À qui proposer le test ? Que faire des résultats ?) fait encore l’objet de débats. Cet article analyse la trajectoire de régulation clinique de ce test et illustre l’importance du contexte spécifique d’usage pour comprendre sa diffusion. Cette analyse vise à nourrir une réflexion plus générale sur les enjeux que pose l’intégration clinique des tests génétiques pour les maladies communes, en considérant notamment les modalités de définition de l’utilité clinique d’un test (statistique versus biologique), des sujets du test (le cas index versus ses apparentés), et des critères en sous-tendant l’accès (modalités des calculs médico-économiques)

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, guide lines 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 aetiology and implications for prevention in healthy relatives, and therefore adopted less stringent regulatory principles. We identify three features of these genetic susceptibility tests that are central in this regulatory trajectory: two epistemological interpretations of the tests – as a molecular determinant of disease and as a multifactorial risk factor for VTE – that are alternatively aligned or opposed to each other; the connections established between different clinical contexts through test use and the correlated possibility of proposing preventive actions “for relatives; the centrality of the tests” in various clinical contexts regarding decisions about pharmacological treatment.