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GENETIC SCIENCE AND HEALTH
Especially in the last 10 years, developments in the field of genetics offer new options for the diagnosis and treatment of diseases. Genetic science is being applied in many areas from pregnancy to cardiovascular diseases, cancer to hematological diseases.
Which tests are performed in which field, what these tests say about diseases and genetic counseling Generations, Turkey Medicals Co-ordinator, “we asked the Founder of the Center for Diagnosis and Evaluation of Genetic Diseases, Genetics and Pharmacology Specialist Dr.
1- For which health problems are genetic tests applied?
Genetic diagnostic tests are used to analyze or exclude a genetic condition. At the current point, genetic tests are being used in almost all health fields. Genetic tests first entered the current medical practice in the field of obstetrics by checking whether the pregnant woman’s baby is chromosomally normal and interventional methods (amniocentesis and chorionic villus analysis). Now, at the embryo stage, the baby’s health can be analyzed both chromosomally and genetically by taking blood from the mother’s arm.
With the advancement of technology, genetic tests are used in almost every branch of medicine, including intensive oncology. Beyond these, genetic tests are now in our lives from diet program selection to sports activities. Genetic tests are also used to determine whether a teenager who is going to play sports has a health problem that will prevent heavy sports. Genetic tracking can be used for routine health checks. In addition, genetic tests can be applied in many areas, from smoking predisposition to reactions to medications.
2- Was genetic science used during the Covid-19 pandemic?
During the pandemic, tests that can predict the course of the disease with Covid-19 predisposition genes were used. According to the risks predicted in these tests, preventive treatments were given to the client. Genetics is one of the very important areas that will increase our control measures against different viruses in the future.
3- What does medical genetic counseling mean?
Genetic counseling can be defined as ’a process that provides information about the risk of developing a genetic disease or transmitting a genetic condition to the next generation, as well as information about the management of genetic problems and treatment options’. In the simplest form, in health management, bringing genetic information together with the patient, informing about the test results before and after the tests are included in the scope of medical genetic counseling.
4- What is the place of genetic tests in the diagnosis and treatment of cancer, which you have indicated as the most widely used area?
In oncology, genetic tests are used both during diagnosis and treatment selection. Genetic data is critical in every step of cancer treatment. Cancer is a genetic disease that forms in a cell, there are also inherited types, but every cancer is genetic. Mutations in the cell pathway are important in the course, treatment and follow-up of the disease. Cancer treatment is changing with developing technology, smart drugs and immunotherapies. Genetic profiling of tumor tissue is required in order for these treatments to be performed. Treatment is selected according to the result of this profile. It may even be decided to try new RNA treatment methods.
Even a single mutation that will be learned by a tumor profiling test to be performed immediately after a cancer diagnosis can change an oncologist’s entire perspective on treatment.
5- What role do genetic tests play in determining the problems of women who cannot get pregnant or experience recurrent losses?
Genetic examinations in couples who want to have children begin with chromosome analysis, it is checked whether the chromosome numbers and structure are normal. With the low resolution remaining with cell culture, detailed examination of chromosomes with a high-resolution test called molecular karyotyping is appropriate. If no change in chromosomes is detected, it is useful to conduct a carrier analysis using the exome (WES) test, in which all coding gene regions are examined along with family history. In families where the carrier of any disease is detected, it can be ensured that they have a healthy baby by in vitro fertilization method, preimplantation technique. Again, the rate of diagnosis by exome test for families with sick children has increased by 65-70 percent.
6- Do the developments in the field of genetics also offer answers/solutions to infertility, which is one of the biggest problems of couples?
Genetic developments are both widely used in the field of infertility and bring good results. Creating a healthy pregnancy is possible with the contribution of genetics. Especially in men with sperm problems, research is being conducted with new technology and experimental treatments are being applied.
The ’non-invasive PGD’ application allows the sample taken from the embryo fluid to be genetically examined. The test, performed without the need for an embryo biopsy, allows determining the embryo that is healthy and most suitable for holding in the womb during the first transfer.
7- Can you give information about pharmacogenetics?
Pharmacogenetics is the fact that drugs show different effects with the characteristics of our genetics while being metabolized in our body. It is the most important step of personalized treatment. It should be used to control the dose, effects and side effects of medications. Taking advantage of pharmacogenetics, especially when using multiple medications, will lead to fewer side effects.
8- What information can the science of genetics give about hematology diseases?
Hematology is another area where genetic analysis is used extensively. Most of the primary hemotological problems are genetically based. Knowing the underlying genetic problem provides accurate data on both diagnosis and treatment selection.
Different genetic tests in Turkey can be used for all types of hematological diseases. One of the common hematological disorders is anemia, and genetic tests especially play an important role in the diagnosis of anemia.
9- What are the other areas in which medical genetics cooperates most often?
Medical genetics is a wide-ranging specialty that cooperates with all fields of medicine. Cardiology is one of them. Genetic problems may be at the root of common heart diseases. That is why it is important for individuals with heart disease among family members to decipher both their controls and their nutrition and lifestyle correctly. Genetic heart diseases include arrhythmia, vascular diseases, heart November diseases. Very common arteriosclerosis and hypertension are also examples of these disorders.
Again, an important part of neurological diseases are based on genetics, and genetic tests have become important in definitive diagnosis, as well as allowing diagnosis to be made at an early stage.
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Many diseases of allergic, viral, endocrine origin and autoimmune diseases are also associated with genetic predisposition. Along with the symptoms, if there is a predisposition to a certain disease in the family, a genetic test may be ordered for a definitive diagnosis.
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Turkey's world-renowned organ transplant specialist. Dr. Demirbaş has 104 international publications and 102 national publications.
Physician's Resume:
Born on August 7, 1963 in Çorum, Prof. Dr. Alper Demirbaş has been continuing his work as the President of MedicalPark Antalya Hospital Organ Transplantation Center since 2008.
Prof. who performed the first tissue incompatible kidney transplant in Turkey, the first blood type incompatible kidney transplant, the first kidney-pancreas transplant program and the first cadaveric donor and live donor liver transplant in Antalya. Dr. As of August 2016, Alper Demirbaş has performed 4900 kidney transplants, 500 liver transplants and 95 pancreas transplants.
In addition to being the chairman of 6 national congresses, he has also been an invited speaker at 12 international and 65 national scientific congresses. Dr. Alper Demirbaş was married and the father of 1 girl and 1 boy.
Awards:
Eczacibasi Medical Award of 2002, Akdeniz University Service Award of 2005, Izder Medical Man of the Year Award of 2006, BÖHAK Medical Man of the Year Award of 2007, Sabah Mediterranean Newspaper Scientist of the Year Award of 2007, ANTIKAD Scientist of the Year Award of 2009, Social Ethics Association Award of 2010, Işık University Medical Man of the Year Award of 2015, VTV Antalya's Brand Value Award of 2015.
Certificates:
Doctor of Medicine Degree Hacettepe University Faculty of Medicine Ankara, General Surgeon Ministry of Health Turkey EKFMG (0-477-343-8), University of Miami School of Medicine Member of Multiple Organ Transplant, ASTS Multiorgan Transplant Scholarship. Lecturer at Kyoto University. Lecturer at University of Essen, Research assistant at the University of Cambridge .
Professional Members:
American Society of Transplant Surgeons, American Transplantation Society Nominated, Middle East and Southern Africa Council Transplantation Society 2007, International Liver Transplantation Association, Turkish Transplantation Association, Turkish Society of Surgery, Turkish Hepatobiliary Surgery Association.
Disclaimer:
Our website contents consist of articles approved by our Web and Medical Editorial Board with the contributions of our physicians. Our contents are prepared only for informational purposes for public benefit. Be sure to consult your doctor for diagnosis and treatment.