Cancer is a genetic disease and due to the genetic differences of individuals, everyone's cancer is different even cancer is detected in the same organ. Progression, response to treatment, possible side effects and outcomes are also different. Genetic testing is done to go beyond standard treatment and find the right treatment for each individual (personalized medicine).
This is because genetic testing uses advanced biotechnology to examine the genetic structure of cancer. It precisely identifies biomarkers that play a role, if any, in the progression and development of cancer, biomarkers that play a role, drug response and toxicity, and information that differentiates response to treatment such as drug resistance and sensitivity, and helps personalize your treatment plan by determining treatment options in line with this data.
Since human body functions, diseases and treatments are controlled by genetic materials in the cell nucleus, genetic testing is needed for the diagnosis, treatment and follow-up of a disease, as well as for the investigation of disease susceptibility.
Personalized medicine in oncology is a method by which competent healthcare professionals (oncologists, molecular biologists, genetic counselors, pathologists and pharmacologists) can plan tailored care for patients based on their genes. Personalized medicine looks at how a particular gene change (gene mutation) can affect a person's risk of developing a particular cancer, or if they already have cancer, how their genes (or genes in cancer cells) can affect treatment. It uses information from genetic testing for this. In addition to improving diagnosis and treatment, personalized medicine can help guide individuals about healthy habits, early screening tests and other steps to prevent if they are at risk for a particular cancer.
Genetic test results provide information that helps your doctor find the right treatment for you. Molecular profiling is used to profile your tumor. Your personal tumor profile provides very detailed information, including cancer biomarkers specific to your tumor, biomarkers that may indicate possible side effects, genetic factors, drug response and toxicity, and predictors of drug resistance and sensitivity. This information can help your doctor to plan treatments which will specifically target your tumor.
Genetic test results also help match your tumor to appropriate treatments by reviewing a large amount of published literature and clinical trials on biomarkers that may be detected in you.
All of this information is used by your doctor to personalize your treatment and improve your response to treatment.
Molecular profiling of a tumor is a type of genetic analysis performed on tissue extracted from the tumor to identify unique characteristics that determine the patient's treatment and prognosis. These unique characters can be all forms of genetic changes (mutations, rearrangements, etc.) and all other biomarkers. Even if two people have the same type of cancer, their cancers may differ genetically. Molecular profiling tests identify unique differences so that oncologists can determine if there are treatments designed for the biomarkers found. The combination of molecular profiling results and potential targeted therapies helps to deliver evidence-based, personalized/precision medicine.
Next Generation Sequencing (NGS) is a genetic technology based on the simultaneous and harmonious parallel processing of DNA and/or RNA molecules from a living organism. Next-generation sequencing technology has become an indispensable part of biological research in many fields with its advantages.
Before 2010, the analysis of genes was limited to methods such as real-time PCR and microarray. The simultaneous analysis of all genes is complex and requires a wide range of technologies. Today, next-generation sequencing technologies have enabled to obtain large amounts of data on molecules inside the cell such as DNA, RNA, micro-RNA, Piwi RNA at low cost, rapidly and in parallel.
Towards the completion of the Human Genome Project in 2003, which began in 1990 and cost billions of dollars, next-generation sequencing, also called large-scale parallel sequencing, has been one of the main topics of genetics. NGS allows the simultaneous sequencing of millions of DNA fragments with no previous sequence information. This advanced technology has been a real revolution compared to traditional sequencing methods, where one or a few DNA fragments were previously amplified by polymerase chain reaction (PCR).
Next generation sequencing;
• It reads a region in DNA hundreds of times.
• This allows it to detect changes at low rates.
• Its capacity is high, it can read the entire DNA of a human being.
Next generation sequencing in oncology is used in the following areas:
• Mutation detection in inherited cancer syndromes based on DNA sequencing
• Detection of spliceogenic variants based on RNA-sequencing (sequencing of hereditary breast cancer genes BRCA 1 and 2)
• DNA-sequencing for the identification of risk modifiers and application for pre-implantation genetic diagnosis
• Cancer somatic mutation analysis
• Liquid biopsy
Genetic testing is not a treatment, but a guide to determine the most appropriate treatment for you.
It is personalized information that will help your doctor to personalize your treatment and ensure a better response to treatment. Genetic testing, in a sense, takes a photograph of your tumor, examines the genetic structure of your cancer with very sensitive methods and determines the drug options that may be useful in your treatment in line with the genetic changes identified. Your doctor will determine the best treatment plan for you, taking into account your genetic test results, your clinical picture and other factors.
Cancer management is a highly complex field of medicine. Every type of cancer and every stage of cancer is different. Individuals' responses to treatment are also different and individualized. Your doctor will recommend the most appropriate genetic test at the stage of your treatment when genetic testing is needed.
Genetic tests are performed in laboratories in our country that are advanced and high-tech, whose quality standards are regularly checked, and whose working procedures are routinely and unannounced inspected by the ministry. The devices and kits used in genetic testing laboratories in our country are of domestic or foreign origin and prices vary according to brands.
Whether you have your test done in a Turkish laboratory or send it to a laboratory abroad, the platform and reporting method on which the data of your test is analyzed is a large international data pool used by that diagnostics company all over the world.
Nesiller has all the high quality standards of a genetics laboratory. It successfully passes internal and external audits, and is staffed by a team with extensive experience in cancer genetics using gold standard EU and US kits and equipment.
The tests we run in our laboratory have been validated by technology transfer from abroad and offer all the following advantages of being run in a local laboratory;
• Accurate and rapid determination of the adequacy of incoming material,
• Close collaboration with the pathology laboratory,
• Maintain good communication with the patient or physician to provide new materials if needed,
• A geneticist is always available to counsel the patient and the physician.
The tests performed in our laboratory are determined by closely following the field of oncology and taking into account the expectations of physicians in order to conduct the most meaningful studies.
Our tests, based on NGS technology, are available in panels ranging from 15 genes to 523 genes to meet your diagnosis and the demands of your physician. The main differences in these tests are the starting material (DNA/RNA/cfDNA) and the types of mutations that can be detected (point mutation, copy number, fusion...).
For physicians who prefer to investigate a small number of specific genes instead of multiple genes, mutation analysis from tumors or blood can be performed by Sanger sequencing and Real-Time PCR methods.
Genetic testing may be ordered to help with the treatment and follow-up of your diagnosed disease, as well as cancer hereditary testing if there is a family history of cancer by your general health physician.
All cancers are genetic, but may not be inherited. There are genetic tests that can detect inherited mutations that can cause cancer. You can get detailed information from your doctor who monitors your general health.
Healthy individuals who have a known family history of cancer and want to learn about their genetic risk can have these tests.
Genetic testing is performed with tissue taken during surgical removal of your tumor or tissue taken from the tumor by biopsy. In addition, your doctor may also order a blood genetic test (liquid biopsy) if the tissue is not sufficient for the test. Your doctor will determine the most appropriate test material for your case.
Molecular-based tests are designed to operate with high precision. In order to obtain accurate results from the tests, it is necessary to work with sufficient tumor cells that have been stored under the right conditions and are not deformed.
The presence of sufficient tumor tissue is checked in our laboratory before the study, and if the necessary conditions are not met, the study is stopped and the patient and his/her physician are contacted.
In our NGS (Next Generation Sequencing) based studies, samples are also subjected to quality control and samples that do not pass quality standards are not included in the studies.
Most genetic tests can be performed in state hospitals and university hospitals within the scope of SSI. However, comprehensive genomic profiling tests in oncology have not yet been covered by the SSI.
Some private health insurances pay for these tests as part of the policy. You can get the best information from the insurance company you have taken out the policy with.
Your tissue will be delivered back to you.
Payment must be completed in order to open registration and start the process in our laboratory. Before starting the test, the tissue or blood taken from the patient is checked for suitability for analysis and the patient is informed. If the tissue adequacy check performed at this stage is not sufficient to be studied in the laboratory, there is no charge other than the cost of the section and DNA isolation.
In such cases, in consultation with the patient's physician, it is decided either to perform a tissue biopsy again or to perform a liquid biopsy.
The lack of gene mutation information to guide treatment, from successfully completed and reported test results, is due to the lack of a known gene mutation that affects cancer cells.
On the other hand, genetic tests do not only serve to identify gene mutations. They also provide;
- Genetic alterations (VUSs) detected in the test but not yet of clinical significance can contribute to treatment if they become significant over time - there is continuous access to an updated genetic library.
- The test detects not only gene mutations that affect cancer cells, but also mutations that cause resistance or sensitivity to drugs, and plays a critical role in excluding/dosing the drug that would be unfavorable for that patient.
Therefore, there is no refund in such a case.
When the tissues arrive at the laboratory, a preliminary evaluation is carried out. If the tissues are insufficient, the patient's doctor is contacted. If possible, new tissue is requested to be sent or, in cases where it is not possible to obtain tissue, the patient is referred for a liquid biopsy with the absolute approval of the doctor.
After the fullfilled documents of the test requested and the sample are received by our laboratory, payment is going to be done and your records to be entered to our system. If there is missing information at this point, you will be contacted. If your samples sent to us are deemed sufficient for the studies, the study will be initiated. The completed laboratory tests are evaluated and reported by our geneticist (doctor). The final report will be sent to both you and your doctor. Genetic counseling is available upon request and is included in the fee.
The delivery time of the tests varies for each test. It varies from 5-7 days to 6-8 weeks. You can find out the turnaround time of the test requested for you from our laboratory.
Factors such as maternal or paternal infertility, inherited genetic diseases and advanced maternal age greatly affect the success of pregnancy and the chance of normal delivery. Your clinics and medical history will be interpreted by your doctor and possible causes and treatments will be investigated.
The healthy egg production of the mother and the healthy sperm production and transmission of the father are the first factors that are examined in the success of pregnancy. The source of anomalies detected at these stages may be genetic and the process can be clarified by genetic testing.
For clients who become pregnant but experience repeated miscarriages, genetic tests can be used to diagnose syndromes suspected as a result of their doctor's examinations.
If couples who cannot get pregnant under normal conditions or do not have a healthy pregnancy are referred to IVF, samples taken from fertilized eggs in the embryology laboratory are examined in the genetics laboratory and the embryos are tested for suitability for transfer. The embryos are transferred to the expectant mother and pregnancy follow-up begins.
Under standart conditions, the fertilized egg attaches and grows in the uterine wall. Genetic differences in the fetus can lead to problems at growth, development or attachment stages. On average, 70% of repeat miscarriages are caused by numerical and structural chromosomal abnormalities in the fetus and 2-6% in the parents.
*(Chester, M.R., Tirlapur, A. and Jayaprakasan, K. (2022), Current management of recurrent pregnancy loss. Obstet Gynecol, 24: 260-271. click here)
In cases such as the presence of a single gene disease in family members or recurrent miscarriages, we have different laboratory techniques to detect the suspected disease. We strive to perform the most appropriate study with a wide range of techniques including NGS, FISH, DNA Sequencing, Fragment Analysis, Molecular Karyotyping (aCGH), Karyotyping (G-banding).
Some of the genetic mutations that cause monogenic diseases in the expectant mother or father occur in so-called hotspots, where mutations are common, while others occur in places where they were previously rare. To ensure accurate results, these tests are designed according to your DNA and personalized for your family planning. In this way, the genetic identity and carrier status of the mother and father are determined, the embryos are subjected to the same study and embryos without the relevant genetic mutation are eligible for transfer.
Our laboratory has determined the optimum time required to personalize the process, to work first with the parents and then with the embryo biopsy, and to process the study and analysis meticulously.
It is one of our corporate policies to complete the work as soon as possible without compromising the meticulousness and quality of the work.
The materials for obstetrics, in vitro fertilization and reproductive genetics tests may vary depending on their purpose. Genetic tests are performed in our laboratory with sample types including blood, amniotic fluid, chorionic villus sample, cord blood, fetal blood, abortion material, skin biopsy. Detailed information is available in our test list.
In embryo single-gene studies (PGD-M), the precise identification of the genetic mutation transmitted from the mother and father allows us to look at the same point in the embryo, which enables us to correctly interpret the suitability for transfer.
When searching for genetic anomalies in samples such as amniotic fluid, it is requested to ensure that the material studied belongs to the fetus. This service is performed in addition to the genetic study requested to ensure that the sample does not contain maternal cells. The genetic anomaly detected in the relevant material is compared with the blood taken from the mother to clarify that it does not belong to the mother but to the fetus.
The family tree is a tool that allows us to evaluate you and your family from a genetic point of view and to understand the possible mechanism of disease transmission. In this way, the genetic disease to be detected, its carrier status and its role in possible family planning can be examined more accurately and more easily.
The role of genetics is crucial for the diagnosis of almost all rare diseases, but it also plays a role in understanding the underlying mechanisms and developing effective treatments.
Genetic tests are priced differently like any service in the health industry such as biochemistry tests, screening services, home care and other patient need. Prices differs from lab to lab as it is all over the world. It should not be forgotten that genetic tests are performed in advanced and high-tech laboratories, whose quality standards are regularly checked and whose working procedures are routinely and unannounced inspected by the ministry. Your doctor determines the scope of genetic testing that best suits your needs and recommends the brands that he or she has the best results and trust in analyzing and reporting in line with his or her experience.
As Nesiller, we care about your privacy and store your personal data in our highly secure data system. Internationally valid ISO 27001 (Information Security Management System) standards are applied in our organization and your information is never shared with third parties.