Sequencing in thrombosis and hemostasis
A technician analyzes a sample in one of the massive sequencing facilities.
The progress in medicine are advancing by leaps and bounds and healthcare professionals are working daily to improve the diagnosis and on treatment of the disease like thrombosis and on hemostasis. In the first of these areas, the development of massive sequencing plays a key role. This was emphasized during the XXXVIII National Congress of Spanish Society of Thrombosis and Hemostasis (SETH), which takes place until next Saturday in Barcelona together with Spanish Society of Hematology and Hemostasis (SEHH) and international society of hematology (ISH).
about Bethlehem from the Morena districtfrom the University of Murcia, explained that “in the field of diagnostics, the development of massive sequencing It points us towards a precise, fast and personalized diagnosis that will enable precision medicine with important prognostic and therapeutic implications that will facilitate the management of each patient as he is, a unique and complex individual”. In this sense, next-generation sequencing will help reduce the number of undiagnosed cases and discover new molecular mechanisms involved in the disease.
In the case of thrombosis and hemostasis, this becomes a significant advance in cases of thrombosis and other changes in hemostasis, such as thrombocytopenia or hemophilia. For example, De la Morena specified: “ third generation sequencingn is beneficial in patients with thrombosis who have gone more than 30 years without a diagnosis”.
in turn Laura Gutierrez Gutierrezfrom the Institute for Health Research of the Principality of Asturias (ISPA) and the University of Oviedo, highlighted in one of his presentations how platelets in various health conditions contribute to advances in personalized therapies. “Knowing the specifics of how they are formed and how they are formed will even help us use platelets as ‘biosensors’ or a source of diagnostic or prognostic biomarkers,” he pointed out.
Resistance to antithrombotic drugs
Resistance to antithrombotic or antiplatelet therapy was defined as failure to respond to the standard dose. Noelia Villalta Setofrom the Hospital de la Santa Creu i Sant Pau, addressed this issue during the Congress and explained that this resistance “is given by the initial conditions of the subject receiving the treatment”, as opposed to antibiotic resistance. “There are basically two causes of resistance: acquired through drug-food interactions; and genetics, due to polymorphisms in enzymes involved in drug metabolism and transport,” he pointed out.
Regarding decisions in this direction, the specialist emphasized that “the state of resistance can only be diagnosed if we are aware that such a possibility exists. The prevalence of resistance is unknown due to its underdiagnosis and because it is a rare disease.
The therapeutic arsenal to be able to treat patients with thrombotic problems increases, but antithrombotic drugs They are not free from side effects, such as bleeding, which is the most common according to experts. “The greater variety of therapeutic options offers the clinician the ability to give each patient the drug that best fits their profile. However, the simplification of guidelines or the lack of need for regular examinations leads to excessive prescription of treatments by specialists who are not aware of contraindications. Also, in cases where patients on anticoagulants are not followed up, this increases the number of complications in this population group,” Villalta concluded.
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