What is Medical Genetics?

Medical genetics is an important branch of medicine that investigates the causes of inherited diseases and manages diagnosis and treatment processes. By examining genetic changes in human DNA, it reveals the origin of diseases and helps to develop personalized treatment methods. Thanks to medical genetics, hereditary diseases such as Down syndrome, cystic fibrosis and sickle cell anemia can be diagnosed at an earlier stage. In addition, prenatal tests performed during pregnancy provide important clues about the health of the baby. With genetic counseling services, families can learn whether they are carriers or not and make informed decisions about having a child. Studies in the field of cancer genetics determine the hereditary cancer risks of individuals and ensure that preventive measures are taken. Today, molecular genetic tests, karyotype analysis and DNA tests examine the genetic structure of individuals in detail, making early diagnosis and preventive health services possible. Medical genetics has a critical role in protecting the health of individuals and predetermining the risks they may face in the future.

As one of the fastest developing fields of modern medicine, medical genetics is of great importance not only in the treatment of existing diseases but also in preventive health practices for the future. Thanks to genetic tests, risk factors carried by individuals can be detected at an early stage and this information can be used to prepare personalized lifestyle recommendations and treatment plans. Thus, both individuals and families can take conscious steps for a healthy future.

In Which Areas Does Medical Genetics Provide Services?

As one of the most important branches of modern medicine, medical genetics provides services in many areas that directly affect the health of individuals. The diagnosis of genetic diseases is one of these areas. Inherited metabolic diseases, chromosomal disorders or congenital syndromes can be detected early thanks to medical genetic tests and treatment processes can be planned. Prenatal diagnosis services allow close monitoring of the health of the baby in the womb. With this method, the chromosome and gene structure is examined in the early stages of pregnancy and the family is informed about possible health problems that may arise before birth.

One of the most important service areas of medical genetics is cancer genetics. It is known that some types of cancer can be inherited from generation to generation. In this case, genetic tests can be used to identify individuals at risk, early screenings can be performed and personalized preventive measures can be applied. In addition, genetic counseling helps to determine whether family members are carriers and to take informed steps accordingly. This counseling is especially important for couples who want to have children.

In addition, medical genetics enables the development of personalized treatment plans by examining at the DNA and gene level through molecular genetic tests. In this way

The most effective and safe treatment methods are applied, taking into account the genetic makeup of individuals. Medical genetics also contributes to public health because early diagnosis and prevention of genetic diseases protects not only individuals but also future generations. In short, medical genetics plays an indispensable role in both preventive medicine and treatment processes today.

What Does Medical Genetics Aim to Achieve?

Medical genetics is a branch of science that basically aims to protect and improve human health at the genetic level. One of its most important goals is to determine the causes of genetic and hereditary diseases, make the correct diagnosis and manage the treatment processes of these diseases in the most effective way. Early diagnosis of diseases of genetic origin enables treatment to be initiated more quickly and the progression of the disease can be largely controlled. This approach allows for the assessment of the health status not only of the individual, but also of family members.

Another important goal is to strengthen preventive medicine. Thanks to genetic testing, risk factors that individuals carry can be identified in advance and these risks can be reduced before the disease occurs. For example, people with a predisposition to hereditary forms of cancer can be followed up with regular screenings and have the chance for early intervention. Medical genetics also aims to contribute to the birth of healthy generations. Genetic tests performed before and during pregnancy provide information about the health of the baby to be born and help parents make informed decisions.

Medical genetics does not only focus on the diagnosis and treatment of diseases; it also aims to develop personalized medical practices. With molecular genetic analysis, the genetic structure of each individual can be examined in detail and personalized treatment methods can be determined. In this way, more effective results are obtained in treatment processes and the risks of side effects are reduced. In addition, genetic counseling services contribute to determining whether family members are carriers, understanding the risks of inherited diseases and creating healthy life plans.

As a result, medical genetics plays an important role not only in the diagnosis and treatment of diseases, but also in their prevention and in protecting the health of future generations. The aim is to provide the most accurate health solutions by taking into account the genetic structure of individuals, to identify risks in advance and to prepare a healthier future for the society.

Which Tests are Performed in the Medical Genetics Department?

In the medical genetics department, many different tests are applied for the diagnosis and follow-up of hereditary and genetic diseases. Thanks to these tests, the genetic structure of individuals is examined in detail, it is determined whether they are carriers or not, and possible health risks can be detected in advance. One of the most common tests is karyotype analysis. This method is used to diagnose diseases such as Down syndrome and Turner syndrome by detecting changes in chromosome number and structure. The Clinical Pharmacogenetics Laboratory at NPISTANBUL Hospital contributes to the shaping of treatment plans by evaluating drug interactions according to genetic structure.

In this laboratory, drug interactions are evaluated according to genetic structure, and scientific support is provided to physicians in making the most appropriate drug selection for the person in treatment processes.

Another important method is molecular genetic testing. These DNA-level tests help diagnose conditions such as cystic fibrosis, sickle cell anemia or inherited metabolic diseases by detecting mutations in genes. Prenatal genetic testing also plays an important role in medical genetics. With methods such as amniocentesis, CVS (chorionic villus sampling) and non-invasive prenatal testing (NIPT), the genetic structure of the baby in the womb is examined and possible risks are determined in advance.

In addition, cancer genetic tests are used to reveal the risks of inherited cancer types. Analyses of genes such as BRCA1 and BRCA2 play an important role in determining the likelihood of developing breast or ovarian cancer. In addition, carrier tests determine the likelihood of individuals passing on genetic diseases to their children, so that families can make informed decisions.

As a result, the tests performed in the medical genetics department cover a wide range from chromosome examinations to DNA analysis, from prenatal screening to cancer risk assessments. The common goal of these tests is to diagnose genetic diseases at an early stage, plan treatment processes correctly and contribute to the birth of healthy generations. Therefore, medical genetic tests not only enlighten the current health status of individuals, but are also of great importance in terms of preventive medicine for the future.

Why is Medical Genetics Important?

Medical genetics is of great importance for both individual and public health because it plays a critical role in diagnosis, treatment and prevention processes by examining the genetic factors at the root of diseases. First of all, it stands out by providing early diagnosis; genetic tests can detect congenital or acquired hereditary diseases before symptoms appear. This makes it possible to start treatment early and positively changes the course of diseases. It also contributes to the preparation of individualized treatment plans. Since the genetic makeup of each individual is different, medical genetic testing can help determine which treatment will be more effective and safer.

Medical genetics also supports the development of preventive medicine. By performing genetic carrier tests in families, diseases that can be transmitted to children can be identified in advance and healthy generations can be born. Prenatal tests during pregnancy also provide valuable information about the genetic health of the baby in the womb. In addition, cancer genetics studies reveal the hereditary cancer risks of individuals, allowing early diagnosis through regular screenings.

As a result, medical genetics is vital not only in the treatment of existing diseases, but also in the prevention of future risks. By enabling both individuals and families to make informed decisions, it contributes greatly to public health in the long term. For this reason, medical genetics is now recognized as one of the indispensable fields of modern medicine.

Why Carrier Tests for Genetic Diseases?

Carrier tests for genetic diseases are performed to determine whether individuals are unknowingly carriers of a genetic disease. Carrier individuals are usually healthy and do not show any symptoms; however, when they have children, if their spouses also carry the same genetic change, the disease may occur in the baby to be born. For this reason, carrier tests are particularly important in family planning.

With these tests, couples can determine their risk of passing on a genetic disease to their children in advance and make informed decisions. For example, carrier screening plays a critical role in the prevention of serious inherited diseases such as cystic fibrosis, sickle cell anemia and SMA (Spinal Muscular Atrophy). In addition, these pre-pregnancy tests allow the selection of embryos that do not carry genetic diseases through in vitro fertilization treatment, if necessary.

Carrier tests are important not only for families but also for public health. As these tests become more widespread, the incidence of inherited diseases will decrease and future generations will be healthier. In short, carrier tests are an indispensable step in preventing genetic diseases, supporting healthy pregnancies and guiding the society in an informed way.

NPISTANBUL Hospital Medical Genetics Department

NPISTANBUL Hospital Medical Genetics Department provides services with up-to-date test methods in the diagnosis and follow-up of hereditary diseases. Genetic counseling, carrier tests, prenatal diagnosis methods (NIPT, amniocentesis, CVS), molecular genetic analysis and cancer genetics examinations are performed in the department. Thanks to these tests, the genetic structure of individuals and families is evaluated in detail, possible risks are identified at an early stage and personalized health planning is supported.

Early diagnosis of genetic diseases is of great importance for the birth of healthy generations and preventive medicine. At NPISTANBUL Hospital, individuals and families are helped to make informed health decisions with medical genetic services carried out by specialist physicians.

You can contact NPISTANBUL Hospital Medical Genetics Department for detailed information and appointments.