Abstract
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.
TopIntroduction
One of the main promises of personalized medicine was a new generation of genetic tests able to predict the onset of a wide range of multi-factorial common diseases. This new model of medicine, fostered by the massive advancements of and investments on genomics started with the Human Genome Project, was grounded on the discoveries of a few genetic variants associated with the predisposition to common diseases in the early 1990s (Collins, 1999). One of the most important is the celebrated APOE mutation associated with Alzheimer’s, which anticipated the use of individual genomic risk factors able to predict and prevent the onset of a wide range of common diseases (Lock, 2005). Until then, human genetics was mainly focused on rare, familial, monogenic diseases, while genetic risk factors opened a new frontier: the study of the genetic predisposition to a wide range of multifactorial, common conditions (Clarke et al., 2003; Rose, 2007; Tutton, 2014). While the ability to predict and prevent what will kill you continues to inspire biomedical research, as well as science fiction movies, such as Don't Look Up, or novels, such as Dave Eggers' The Every, the power to achieve this with the sole power of genomics has been scaled down. In many cases, practitioners view genetic susceptibility testing as a burden in their relationship with their patients (Will et al., 2010) and a source of uncertainty rather than actionable information (Turrini & Bourgain, 2021a). The trajectory of biomedical research and clinical application of inherited thrombophilia testing seems a very interesting case study for understanding the changing expectations and uses of genomic susceptibility.
Key Terms in this Chapter
Factor V: Factor V Leiden is a mutation of one of the blood clotting factors. This mutation can increase the chances of developing abnormal blood clots, most often in the legs or lungs.
Similarity Measures: In data science, the similarity measure is a way of measuring how data samples are related or closed to each other. On the other hand, the dissimilarity measure is to tell how much the data objects are distinct. Moreover, these terms are often used in clustering when similar data samples are grouped into one cluster.
Co-Word Maps: Maps graphically represent the proximities and distances of the co-words resulting in the temporal structure of a field of knowledge. The distance between two words on the map indicates the greater or lesser relationship between them. Finally, they help to visualize the knowledge structure of a scientific field.
Scientometrics: Branch of information science concerned with the quantitative study of science and the communication and policy in science.
Non-Rare Thrombophilia (NRT): NRT refer to the most common genetic risk factors associated with a susceptibility to VTE. They include variants in two factors of coagulation: Factor V and Factor II.
Venous Thrombo-Embolism (VTE: VTE is a disorder that includes deep vein thrombosis and pulmonary embolism. A deep vein thrombosis (DVT) occurs when a blood clot forms in a deep vein, usually in the lower leg, thigh, or pelvis. A pulmonary embolism (PE) occurs when a clot breaks loose and travels through the bloodstream to the lungs.
Factor II: Prothrombin or Factor II is the precursor of Thrombin, the final effector of the coagulation cascade that leads to the formation of Fibrin. Prothrombin is a key enzyme as it promotes positive feedback coagulation and anticoagulation by activating the Protein C pathway.
Thrombophilia: Thrombophilia refers to hyper-caogulable state that predisposes to form clots, a pathology technically called Venous Thrombo-Embolism (VTE). Thrombophilia is associated with inherited or acquired risk factors. Among the former non-rare thrombophilia (NRT) are the most frequent, genetic risk factors in the population of European origin.