Did you know that thanks to the rapid developments in the field of genetics in recent years, many diseases that could not be diagnosed before can be definitively diagnosed today? In fact, not only diagnosis is made, but also genetic tests are of great benefit in the treatment and follow-up of many hereditary diseases. Acıbadem Healthcare Group Medical Genetics Specialist Assoc. Dr. Ahmet Yeşilyurt said, “There are over 7 thousand single gene diseases, the genes of which we currently know, the cause of the disease. "Although the total number of these diseases is high, we can detect almost all genetic diseases with the tests we do for prospective parents." Assoc. Dr. Ahmet Yeşilyurt gave information about genetic tests, which are of great benefit to be done before becoming a parent, and made important suggestions and warnings.
Medical genetics, which is a rapidly growing field of medicine today, has made great progress in our country in recent years. Medical genetics, where great developments are achieved every year, can guide both patients and physicians in a much more sensitive way in the diagnosis, treatment and follow-up of diseases. Acıbadem Healthcare Group Medical Genetics Specialist Assoc. Dr. Ahmet Yeşilyurt “Genetic tests are used in the diagnosis, treatment and follow-up of many diseases today. Thanks to the developments in the field of genetics, many diseases that could not be diagnosed before can be easily diagnosed. E.g; Abnormal findings detected by ultrasound during pregnancy or increased risk in screening tests, growth-development retardation in infancy and childhood, cognitive (intelligence) retardation, convulsions, frequent illness, autism findings, early cancer in any individual in the family, or multiple It can be understood whether many different diseases such as cancer history, muscle diseases, metabolic diseases are due to a genetic cause. When the cause is determined, treatment specific to that disease can be given, and recurrence of this disease in subsequent pregnancies can be prevented.
It prevents the transition to the next generations!
Emphasizing that it is especially beneficial to have genetic testing before marriage or pregnancy, and if it is not possible before marriage or pregnancy, some diseases should be screened during pregnancy, Assoc. Dr. Ahmet Yeşilyurt says: “It can be guaranteed before pregnancy that a known genetic disease is not passed on to the children of the family. For couples who apply during pregnancy, prenatal (during pregnancy) genetic testing can be performed to determine whether the baby is affected or not. In recent scientific studies; Since it has been proven that almost everyone is a carrier for at least 2 genetic diseases, it is very important for every couple to consult a Medical Geneticist before pregnancy planning if possible or during pregnancy at the latest, whether they are related or not.
Genetic tests include diagnostic and screening tests performed at Genetic Evaluation Centers licensed by the Ministry of Health to detect a genetic disease or carriers with a known cause. Especially in our country, Thalassemia (Familial Mediterranean Anemia), Cystic Fibrosis, SMA (Spinal Muscular Atrophy), Fragile X with intelligence and learning difficulties, Duchenne Muscular Dystrophy, which is a muscle disease, developmental delay, neurological problems and decreased muscle strength. It is absolutely necessary to screen for common diseases, especially diseases such as biotinidase deficiency and Phenylketonuria. Assoc. Dr. Ahmet Yeşilyurt said, “Genetic tests allow us to find harmful mutations in our genes in DNA that cause diseases or cause us to be carriers for a disease. By testing one or thousands of genes at the same time with different genetic tests, almost all carriers that may exist in a person can be tested. "Which tests should be done on a couple is recommended based on the information received during genetic counseling," he says.
Definitive diagnosis is possible with a simple blood sample!
Stating that genetic tests can usually be done with a simple blood sample taken from the arm, like many other tests, Assoc. Dr. Ahmet Yeşilyurt continues his words as follows: “Moreover, with the comprehensive tests specific to the individual, which we can shorten as genetic check-up, these diseases can be prevented by taking precautions before they occur, or they can be treated much more easily by catching them at a very early stage. Although the accuracy rate of each genetic test may vary within itself, if it is performed in an experienced center, it can now be diagnosed with an accuracy of up to 100 percent. Diagnostic genetic testing can clearly tell whether a disease-related mutation is present.”