In 2003, after years of painstaking research by thousands of scientists around the world, a person's complete genetic code – or genome – was published.
The Human Genome Project, as it is known, was completed with a technique called "sequencing" in order to read 3 billion bases of the human genome letter by letter. There is now an opportunity to leverage crucial scientific discoveries about DNA and the way it works to potentially be life-saving for patients around the world.
Most of us have heard of genetics; we can briefly summarize the science of genetics as the study of the way certain characteristics or diseases are inherited through genes that are transferred from one generation to another.
But the more we learn about genes, the more we realize that the idea of having a single gene that determines your destiny, or a single gene for that matter, isn't so true. In fact, groups of genes work together and their activity is influenced by a wide range of environmental and other factors. Therefore, every patient is different.
Your genome is your body's instruction manual, and almost every healthy cell in your body contains a copy of your genome.
When the entire human genome was sequenced, it was claimed that it would revolutionize medical treatment. But it turned out that we do not understand and know genetics sufficiently. One of the biggest surprises in the Human Genome Project was that there were only about 20,000 genes that code for proteins.
The role of the rest of a human genome—a surprising 95 percent, in fact—has been a mystery. We now know that the remaining DNA is not irrelevant as once thought, but that much of it has a critically important role, influencing, regulating and controlling the rest.
Therefore, if we want to truly understand the role of genes in health and disease, this is impossible with current knowledge and technology. Just looking at the 20,000 genes currently used for medical diagnosis is not always informative.
People are very different, so simply examining a small number of genomes will not be enough to give doctors and scientists a true picture of our genes and their relationship to disease.
Another important point is that a genome alone cannot tell you much. To understand this, it is important to know much more about the person giving the blood or other tissue sample.
Another set of information that may be important in interpreting genomic data comes from historical medical records and includes information such as previous diseases and medications.
So what can genomics do?
You can use this to predict how well a person will respond to a treatment or to find the one that will work best for them. You can also use genomics to test how well a cancer may respond to radiotherapy.
For some, this may mean much fewer radiotherapy sessions. The potential of genomics is huge and could lead to more precise diagnoses for early detection, new medical devices, faster clinical trials, new drugs and treatments, and potentially new treatments over time.
Because cancer is more likely to occur as people get older, we expect the number of cancer cases to increase as people live longer. Although individual rare diseases are very rare, in total around 8000 rare diseases have been identified and therefore the number of people affected is not small.
Genomics has great potential for both, as both rare disease and cancer are strongly linked to changes in the genome.
Cancer begins due to changes in genes inside a normal cell. Although a cancer starts with the same DNA as the patient, it develops mutations, or changes, that allow the tumor to grow and spread.
Precise changes are detected by taking DNA from the tumor and DNA from the patient's normal cells and comparing them. Knowing and understanding these will indicate which treatments will be most effective. Genomics has begun to guide and inform doctors about the best treatment for patients with some cancers and certain diseases.
At least 80 percent of rare diseases are genomic, and half of new cases are found in children. Knowledge of the entire genome sequence could identify the cause of some rare diseases and help point the way to new treatments for these devastating conditions (a vital advance given that some rare diseases take two or more years just to be identified).
Because most rare diseases are inherited, the genomes of the affected individual (usually a child) and two of their closest blood relatives (usually the mother and father) may be included to determine the cause of the condition.
Some patients involved in the Genome Project have already benefited because a better treatment was identified for them or their condition was diagnosed for the first time.
However, for many, it will be beneficial to know that they will be helping people like them in the future by doing research on the genome data they have generously allowed to be studied, but they will all know that because of their participation, an infrastructure will be developed.
There are many difficulties in the sequencing technique and subsequent stages. The first step after sequencing is to compare the possibly millions of differences between the patient's genome and a reference genome; This process is called variant calling.
The next hurdle is to select the important ones of these differences and interpret their meaning. Some of the differences will be just natural harmless variations between individuals, but some will be damaging and almost certainly involved in the development of disease. This process may sometimes take weeks or sometimes years.
Another data issue is size. The raw data from a genome is approximately 200 GB, taking up most of the average laptop's hard drive. Annotations alone can easily fill a DVD on their own.
This mountain of data needs to be sifted through, analyzed, and presented in a way that is helpful to doctors, many of whom do not have expert knowledge of gene alterations, and that takes time.
Eurogene As the Diseases Evaluation team, we are ready to assist you with genetic tests using the technology available in our laboratory.
Since genetic data is personal and highly sensitive data, it is protected under the Personal Data Protection Law in Turkey. Before having a genetic test, you must read the brochure we have prepared for you and sign the informed consent form before giving a sample for testing.
Genetic testing is a medical test that examines certain genes or genetic changes in a person's DNA. These tests are used to understand a person's genetic makeup, assess disease risk, or diagnose genetic disorders.
Genetic testing can be used in many different situations. For example:
Determining disease risk: Some genetic tests are used to assess a person's susceptibility to certain diseases. In this way, individuals can take preventive measures by learning the risk factors in advance.
Diagnosis of genetic disorders: Genetic tests are used to diagnose some congenital or hereditary diseases. These tests provide important information for accurate diagnosis and treatment planning.
Family planning: Some couples may resort to genetic testing to evaluate the risk of genetic transmission and plan a healthy pregnancy.
Genetic tests have various types used for different purposes. These include:
Genetic carrier tests: Used to determine whether a person carries a certain genetic disease.
Genetic profile tests: They are used to evaluate disease risks by examining the person's genetic structure in general.
Prenatal genetic tests: These are tests performed during pregnancy to evaluate the genetic health of the baby.
The results of genetic tests are generally presented with high confidence. However, the accuracy and reliability of each test may differ. It is important to consult a geneticist to interpret test results and receive counseling.
If you want to have genetic testing, you should consult a healthcare professional. Health care organizations or genetic counseling centers can provide information and guidance about genetic testing.
You can fill out the form below to get detailed information about our genetic tests.
