Medical Genetics
The Key to Understanding Your Health Is Medical Genetics
The Medical Genetics Department, offers complete and state-of-the-art genetic services to assist people and families in understanding and managing their health. Our team is committed to giving patients with genetic diseases accurate diagnoses, risk assessments, and individualized treatment plans using the most recent technologies and trained specialists.
For the purpose of comprehending, diagnosing, and treating genetic disorders and inherited diseases, the science of medical genetics combines the ideas of medicine, genetics, and biology. Medical geneticists are essential for diagnosing genetic disorders and explaining the implications of a diagnosis to patients and their families.
Pharmacogenetics
Pharmacogenetics is used to understand the genetic material's response to specific drugs. This information can help patients receive personalized treatments. Genetic differences between individuals largely influence the effects of a drug and its effectiveness on a particular disease. Each individual has a unique 'pharmacogenetic profile,' and for all drugs to complete their therapeutic mechanism, they need to reach the 'therapeutic plasma level' after being taken into the body. If the drug's dose is too low, the dose range is insufficient, the metabolic elimination is rapid, or the bioavailability is low, the drug may fail to reach the therapeutic plasma level, leading to an inadequate response to treatment. Conversely, if the drug's dose is too high, the dose range is too narrow, or the metabolic elimination is very slow, it may cause various adverse effects on the individual.
Targeted Chemotherapy
The focus of personalized cancer treatment is to identify individual variations in cancer biology. By elucidating these differences at the molecular level, the aim is to design treatments that can be more effective.
To be able to design personalized cancer treatment, an analysis of cancer pathways is necessary. This is achieved through genetic testing, referred to as comprehensive genomic profiling or comprehensive genomic mapping. Roughly speaking, this can be likened to using a navigation system where all the roads and traffic at each point are displayed, allowing you to choose a route tailored to your needs.
Our medical genetics division provides a vast array of services, such as:
Genetic Counseling
One method for assisting people and families in understanding the effects of genetic abnormalities, illnesses, or diseases is genetic counseling. Medical geneticists, who have received specialized training in the field, carry out this service to inform, support, and direct anyone who may be at risk for a genetic disorder.
A medical geneticist will take a thorough medical and family history, go over any pertinent test results, and discuss the genetic implications of a problem during a genetic counseling session. The medical geneticist will also go over the possibilities for genetic testing, the advantages and disadvantages of testing, and potential results of the test.
The purpose of genetic counseling is to provide patients with the information they need to make decisions about their own and their family's health. It can assist people in planning for any potential health issues, understanding their risk for certain conditions, and making wise decisions regarding their future health and family planning.
Individuals and families who might need emotional support while making challenging health decisions may benefit from genetic counseling. The medical geneticist can assist patients in coping with their diagnosis and making educated decisions about their health by providing information, resources, and connections to support groups or other services.
Genetic Testing
Genetic testing is the act of examining DNA or genetic material to find out if there are any particular genetic variants that could lead to or raise the risk of developing a given health problem. There are various kinds of genetic tests, such as:
Diagnostic Testing
A genetic test called a diagnostic test seeks to pinpoint the precise origin of a disease or medical condition. It is utilized to identify any hereditary conditions that a person may have as well as the nature of those conditions. The outcomes of diagnostic testing can be used to inform medical decision-making and treatment planning, as well as to support other family members' risk assessment and family planning.
There are various kinds of diagnostic tests, such as:
- DNA sequencing: DNA sequencing is a procedure that establishes the precise arrangement of a person's DNA's nucleotides. Genetic mutations or changes that may be the cause of a genetic disorder can be found with this kind of testing.
- Chromosome analysis, sometimes referred to as karyotyping, entails examining a person's chromosomes to determine their size, shape, and number. Chromosome abnormalities that can be connected to a hereditary disorder can be found with the aid of this kind of testing.
- Gene expression analysis: This method examines the degree of gene activity within an individual's cells. This kind of testing can assist in determining whether a gene is operating correctly or whether it has undergone an alteration that may result in a genetic disorder.
- Biopsy: During a biopsy, a small sample of tissue is taken from the body and sent to a lab for examination. The biopsy sample can be subjected to genetic testing to determine the precise origin of a medical issue.
Medical genetics relies heavily on diagnostic testing, and the outcomes of these tests can have a big impact on the people and families impacted by genetic diseases. Our medical genetics section at Medicana Health Group offers cutting-edge diagnostic testing services to people and families so they can better understand the underlying reasons of their medical disorders and make decisions about their health.
Carrier Testing
Genetic testing known as "carrier testing" can help identify whether a person possesses the gene for a certain inherited ailment. People who are considering having children and want to know if they are carriers of a certain ailment can usually get this kind of testing done if they have a family history of a genetic disorder.
The goal of carrier testing is to find people who have a faulty gene linked to a certain condition but do not show any symptoms of the disorder. Medical practitioners can offer advice and strategies for reducing the chance of passing the illness on to their offspring by identifying carriers.
Carrier testing comes in a variety of forms, such as carrier screening tests, presymptomatic testing, and predictive testing. In order to detect carriers of particular genetic illnesses, carrier screening tests are typically administered to large populations of individuals. Presymptomatic testing is done on those with a family history of a specific disorder who may be more likely to inherit the gene. People who are at an elevated risk for a certain ailment and wish to know if they have inherited the gene undergo predictive testing.
A crucial tool for assisting families in managing the risk of passing on genetic illnesses is carrier testing. It also offers helpful information for those who may be more susceptible to certain illnesses as well as for couples thinking about raising a family. The medical genetics division at Medicana Health Group can give you additional details and address any inquiries you may have if you're interested in carrier testing.
Predictive Testing
Genetic tests that are used to predict a person's future propensity to develop a certain genetic condition are referred to as predictive testing. In order to find out if a person has a gene mutation or changes in a particular gene known to cause a certain condition, these tests examine their genetic composition.
Presymptomatic and predispositional testing are the two basic types of predictive testing. People who have a family history of a genetic illness but have not yet shown any symptoms are subjected to presymptomatic testing. Finding out if a person carries the genetic mutation and will eventually acquire the disorder is the aim of this kind of testing. Individuals who have a family history of a specific genetic illness but have not yet reached the age at which the symptoms are likely to manifest are subjected to predispositional testing. Finding out if a person carries the genetic mutation and is more likely to develop the condition in the future is the aim of this kind of testing.
Predictive testing can have substantial psychological and social repercussions, thus anyone thinking about taking this kind of testing should seek out genetic counseling to go over the advantages, restrictions, and potential results of the test. The outcomes of predictive testing may also have an impact on decisions for future medical procedures and family planning.
Prenatal Testing
Prenatal testing is the process of using genetic tests to identify chromosomal or genetic problems in a fetus while it is still in the womb. These tests can aid in the early detection of genetic disorders like Down syndrome, spina bifida, or other birth defects so that parents can make educated decisions regarding the pregnancy and the care of their unborn child.
Prenatal testing can in a variety of forms, including:
- Chorionic villus sampling (CVS): This test, which is carried out between 10 and 12 weeks of pregnancy, entails collecting a sample of the placenta in order to examine the fetal DNA.
- Amniocentesis: This test is carried out later in pregnancy, typically between 15-20 weeks, and requires the removal of a sample of amniotic fluid for the purpose of analyzing fetal DNA.
- Non-invasive prenatal testing (NIPT): This test analyzes fetal DNA using a sample of the mother's blood and can identify some genetic disorders as early as 10 weeks into the pregnancy.
- Ultrasound: The fetus is imaged using high-frequency sound waves during this examination, which can also be used to identify some physical problems.
Prenatal testing can give expectant parents useful information, but it's crucial to realize that these tests are not 100% accurate and may not catch all genetic abnormalities. Additionally, several of these tests have a very slight risk of side effects, such a probable miscarriage. Expectant parents should consult with their doctor about the potential advantages and disadvantages of prenatal testing before making a decision.
Newborn Screening
A battery of tests called newborn screening are administered to newborns in an effort to find illnesses or genetic diseases that might not be apparent at birth. The results of these tests, which are often carried out within the first few days of life, are used to identify and treat diseases that may lead to severe health issues. Phenylketonuria (PKU), congenital hypothyroidism, and sickle cell anemia are a few of the frequent disorders that can be found through newborn screening.
A small blood sample from the newborn's heel is routinely taken as part of newborn screening, and the sample is subsequently sent to a lab for analysis. A hearing test or a physical examination may also be conducted in some circumstances.
The goal of newborn screening is to find diseases as soon as possible so they can be treated or managed. This can assist the affected youngsters fare better and stop significant health issues from emerging.
It is crucial to remember that newborn screening is not a diagnostic procedure, and positive results may not always imply that the kid has the affliction under consideration. However, the outcomes may enable early intervention if necessary and give families and healthcare professionals with useful information.
Preimplantation Testing
Before embryos are put in the uterus during in vitro fertilization, a sort of genetic testing known as preimplantation testing is performed on the embryos (IVF). Preimplantation testing's goal is to spot embryos with chromosomal or genetic defects so that clinicians may only choose the healthy ones for implantation. This kind of testing improves the likelihood of a successful pregnancy while lowering the danger of specific genetic problems.
Preimplantation genetic diagnosis (PGD) and preimplantation genetic screening are the two basic types of preimplantation testing (PGS).
- Preimplantation Genetic Diagnosis (PGD) is a kind of genetic testing used to find particular genetic diseases in embryos. PGD is typically conducted on couples who are at a high risk of transferring a genetic disease to their future children, such as those who have a family history of a specific genetic disorder or who have already had children who have a genetic disorder.
- In order to check for chromosomal abnormalities in embryos, preimplantation genetic screening, or PGS, is a sort of genetic testing. Given that the chance of chromosomal abnormalities rises with advancing age, PGS is often conducted on couples who have undergone numerous unsuccessful IVF cycles, have experienced previous miscarriages, or are older.
PGD and PGS both entail taking a single cell from an embryo and examining it for chromosomal or genetic abnormalities. In doing so, medical professionals can choose the healthiest embryos for implantation, enhancing the likelihood of a successful pregnancy and a healthy child.
Cancer Genetic Testing
A specific kind of genetic test called cancer genetic testing is performed to find genetic changes that could make a person more likely to have cancer. It is carried out on a DNA sample of the subject, typically taken from a biopsy or blood sample. The outcomes of this test can offer crucial information that can be used to estimate a person's likelihood of developing cancer and to help make decisions regarding possible preventative actions and treatments.
A person's risk for hereditary malignancies, which are diseases brought on by inherited genetic alterations, can be assessed via cancer genetic testing. Breast and ovarian cancer, colon cancer, and pancreatic cancer are a few examples of hereditary cancers. This kind of testing can assist in identifying people whose hereditary abnormalities in genes like BRCA1 and BRCA2 enhance their chance of contracting cancer.
Cancer genetic testing is also available for those who have previously received a cancer diagnosis. Tumor sequencing is a type of test that can assist identify the precise genetic abnormalities that are fueling the development of the malignancy. This information can offer suggestions for the best therapies for a given patient and help with treatment decisions.
It is significant to remember that other factors, besides genetic testing, affect a person's likelihood of getting cancer. Age, way of life, and exposure to the environment are among other aspects that are important. A medical geneticist or a genetic counselor should be consulted by anyone thinking about cancer genetic testing to go over the test's potential advantages and disadvantages and to assist them decide whether it is appropriate for their particular situation.
You should obtain the counsel of a medical geneticist or other healthcare professional before performing genetic testing because the results can have a substantial impact on a person's health and the future of their family.
Diagnostic Testing
Diagnostic testing is a category of genetic testing that identifies particular genetic disorders or diseases. This kind of testing is carried out to find out if a person has a genetic predisposition to a particular ailment when they are exhibiting symptoms or have a family history of it.
Numerous procedures, such as blood tests, tissue samples, and other laboratory techniques, can be used to conduct diagnostic testing. The type of genetic disorder being investigated, along with the patient's medical background and present-day symptoms, will determine the precise testing procedure.
After a sample is taken, it is examined in a lab to see if any particular genetic alterations or mutations connected to the condition being tested for are present. The test's outcomes can aid in the diagnosis of the ailment, the choice of the most effective course of treatment, and the gathering of crucial data for family planning.
It is crucial to keep in mind that diagnostic testing might occasionally produce false-negative or false-positive results. The ethical, social, and psychological ramifications of genetic testing should also be taken into account, which is why genetic counseling is frequently advised both before and after a diagnostic test.
Treatment
Treatment options for genetic diseases are provided by Medicana Health Group's medical genetics divisions. Each patient will have a unique treatment strategy based on their unique genetic condition, medical needs, and medical history. Medical genetics departments may offer a variety of treatments, such as:
- Medications: Some medications, such as painkillers for conditions that cause joint pain or anti-inflammatory treatments for conditions that cause inflammation, may be used to manage the symptoms of hereditary conditions.
- Surgery: In order to rectify physical defects or remove damaged tissues or organs, some hereditary disorders may necessitate surgical intervention.
- Gene therapy: This cutting-edge area of medicine involves replacing defective genes that result in genetic illnesses with healthy genes.
- Physical Therapy: Physical therapy is helpful for a variety of inherited diseases, particularly for those that impair mobility, such muscular dystrophy.
- Genetic counseling: Patients and their families may benefit from genetic counseling to better understand their genetic condition, as well as the advantages, disadvantages, and treatment options available based on their genetic makeup.
It's crucial to remember that not all genetic disorders can be treated, and others might not have a known treatment. However, Medicana Health Group's medical genetics departments are committed to offering the finest care possible to all of their patients, and they will work carefully with each patient and their family to develop a customized treatment plan that takes into account their unique requirements and objectives.
Research
A key component of medical genetics is research, which is essential for expanding our knowledge of genetic illnesses and creating new treatments. A group of highly qualified and experienced geneticists and researchers collaborate to conduct cutting-edge research in the field at Medicana Health Group's medical genetics divisions.
At Medicana Health Group, some of the fields of medical genetics study are:
- Determination of novel genetic mutations and illnesses: Our researchers are committed to identifying novel genetic mutations and disorders in order to further our knowledge of their underlying causes and available treatments.
- Development of new diagnostic tests: Research in medical genetics is also concentrated on creating new, more precise diagnostic tests for genetic illnesses in order to increase the diagnostic efficiency.
- Creation of novel therapies: Our researchers are working to create novel, more efficient therapies for genetic diseases, such as gene therapy.
- Genetic risk factor research: To help identify those at higher risk and create individualized prevention and treatment strategies, our experts are researching genetic risk factors for a range of illnesses, including cancer and cardiovascular disease.
- Personalized medicine: Research in medical genetics is also concentrated on harnessing genetic data to customize treatment and care to each patient's particular needs, ensuring that they receive the best care possible.
Why Choose Medicana for Medical Genetics?
- Expertise: Our team of medical geneticists has years of experience and extensive training in the subject. They are well-versed in genetic disorders and offer the most recent genetic tests and counseling.
- Comprehensive care: We provide a full spectrum of services in our medical genetics department, from genetic testing and counseling to diagnostic evaluation and treatment. To provide a comprehensive and individualized approach to care, we collaborate with patients and their families.
- Advanced technology: Our genetic testing facility is outfitted with cutting-edge hardware and sophisticated genetic testing procedures. Our goal is to deliver the most precise and trustworthy results we can.
Contact us at +90 850 4601010 or [email protected] for more information about our medical genetics services or to make an appointment. Let us work with you to create a specific treatment plan and to assist you and your family comprehend the effects of genetic disorders.
