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As knowledge about diseases increases, it is discovered that a greater number of them have a genetic basis. And, once the mutations behind it are discovered, more treatments are developed to address them. It is therefore becoming important to refine the diagnosis by looking for biomarkers that allow us to find the most effective treatments for each patient. This is the situation that is leading to exponential growth in genetic studies. At the Multidisciplinary Genetics and Molecular Pathology Unit of the Vigo (CHUVI) University Hospital Campus They project approximately 15,000 tasks in 2023, which represents more than 60 per working day. And “It can only get worse, because precision medicine demands it,” insists one of its managers, Dr. Joaquin Gonzalez Carrero.
This department was created in late 2018 Clinical analysis and pathological anatomy, The head of this last service, Dr. González-Carrero, explains that the Vigo Complex, unlike others, chose to “unite human and technical resources into a shared and transversal unit”. And this highlights that they are open to include all specialties interested in molecular tests such as oncology or oncohematology. He says, “Our destiny is to create more and more complex technologies and it is better to unite to master them.”
cytogenetics
People in clinical analysis – specifically, cytogenetics and molecular genetics – are in charge of hereditary-based diseases. Last year, they processed 7,000 genetic studies. According to the doctor, 25 to 30 patients come in a day. Alfredo Reparaz, Clinical Analysts accredited by the Spanish Association of Human Genetics – Spain is the only country in Europe that does not have the expertise of a geneticist, although it has been in demand for years. Over the five years that the unit has been in operation, this means Cumulative increase of 40%. They complete about half and send the other half to the Galician Public Foundation of Genomics Medicine.
Most of its activity comes from the maternal and child sector. -both Pediatrics and Obstetrics-, which contribute about 40% of the studies they carry out. Following are oncology, with 20% of requests, and oncohematology, with another 10%. The rest are from practically all the remaining services, among which cardiology and neurology can be highlighted.
Dr. Repraz Andrade emphasizes that the greatest growth in these five years has been seen in oncology and pharmacogenetics – a part of personalized medicine that involves adjusting the type or dosage of drugs based on genetic conditions. By 70 and 75% respectively. The results of these latest studies are intended to be given within a week so that treatment can start as soon as possible.
They have a genetic counseling clinic in which they study about 230 people every year. If a hereditary disease is identified in a patient, a family tree is created and it is evaluated which members of the family are susceptible for genetic studies. It is up to the individual in the index case whether they share this information and whether the study is initiated. With this consultation they address all types of diseases except oncology, breast cancer, colon cancer and some cardiology which have their own specific consultations. However, everyone works in coordination.
pathological anatomy
If these hereditary DNA mutations are discovered mainly in blood samples, the acquired or somatic alterations studied in pathological anatomy are worked out in tissues such as tumors. Dr. Gonzalez Carrero estimates he conducted 8,000 genetic studies last year. they have a 10% increase annually.
The vast majority, 5,000, correspond to the control of human papillomavirus (HPV), which has “increasing demand” because “they are very informative.” There are another 3,000 oncological biomarkers. At the top, the lungs. “We do 6 or 7 tests to determine their sensitivity to certain medications,” he explains.
The team consists of three chemical analysts, one pathologist, two senior clinical and biomedical laboratory technicians and two senior pathological anatomy technicians.
Behind a huge sequencer for more capacity
The discovery of genetic biomarkers is something that is already essential in oncology. In fact, last week the Health Ministry presented a general list of genetic tests, which will be expanded from time to time. “In Galicia we have very good access to these tests,” says Dr. Repraz. That doesn’t mean it can’t be better. The technical aspiration of the Chuwi unit is to have a massive sequencer.
“With a single technique we can determine all the altered biomarkers that can be treated. Reduce 6 or 7 in an essay. It is more informative and potentially cheaper,” explains González Carrero. In Santiago they have it and in A Coruña it is being assembled. In the Precision Oncology strategy of Galicia, consideration has been given to Vigo and Pathological Anatomy. “A competition has been prepared” and is awaiting authorization, the head of the WHO explains. “Our ability to provide information for this precise medicine will be substantially increased.”
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