The underlying cause of cancer formation is the disruptions in the DNA that constitutes genetics, leading to the irregular proliferation of cells. In other words, for a cell to be cancerous, mutations must occur in that cell’s DNA. There can be multiple factors that cause this situation, one of which is genetic transmission. Since DNA is inherited, it can pose a risk for individuals with a family history of cancer. Therefore, individuals with a family history of cancer can benefit from genetic counseling, which can assist the patient both medically and psychologically. To learn more about genetic counseling in cancer diseases, you can read the continuation of the article.
What is Genetic Counseling?
Genetic counseling is the process of informing individuals and families about genetic diseases, hereditary conditions, and genetic transmission, and providing them with counseling. This counseling service takes into account personal factors such as individuals’ health conditions and family histories while assessing genetic risks and possible outcomes. The goal of genetic counseling is to help interpret genetic test results and understand the possible genetic foundations of diseases and guide treatment options. It also provides guidance to patients and their families to offer information related to the prevention, treatment, and management of genetic diseases.
Genetic counseling is provided by medical genetic specialists in our country, both in genetic disease assessment centers and hospitals. At this stage, individuals’ health histories are evaluated, family trees are constructed, and the necessity of genetic tests is determined to provide personalized counseling.
Genetic counseling supports families in their health decision-making processes and provides information on topics such as the transmission of genetic diseases, fertility options, and the benefits and limitations of genetic tests. This way, it can help individuals and families make more informed decisions regarding coping with genetic diseases and understanding the risks for future generations.
Which Diseases are Hereditary?
Hereditary diseases are conditions that arise from abnormal genes inherited from a person’s parents and can be passed on to subsequent generations. Genes are the fundamental building blocks of our body and are found in specific regions of our DNA. They carry genetic information that determines a person’s physical characteristics and health status. Hereditary diseases typically show familial transmission and occur as a result of abnormal genes carried by one or both parents being passed to the child. The genes passed from parents to children code for specific traits and functions. Many different types of diseases can be inherited. The severity and effects of these diseases can vary depending on the type and location of the genetic mutation.
Genetic diseases are fundamentally evaluated in three stages. These are
- Single Gene Diseases
- Chromosomal Diseases
- Multifactorial Diseases
Many hereditary diseases are examined in the category of single gene diseases. Some common hereditary diseases include:
- Mucopolysaccharidosis: Mucopolysaccharidosis refers to a group of disorders caused by the deficiency of certain enzymes in the body. This condition affects the ability of cells to eliminate toxic substances and often leads to organ and tissue damage.
- Phenylketonuria (PKU): PKU is a metabolic disorder that occurs due to the body’s inability to break down the amino acid phenylalanine as a result of a deficiency of an enzyme. High levels of phenylalanine can lead to brain damage and mental retardation.
- Down Syndrome (Trisomy 21): Down syndrome is a genetic disorder that occurs due to the presence of three chromosomes in the 21st chromosome pair. It can cause intellectual disability, distinct features in facial and hand shapes, and some health issues.
- Hemophilia: Hemophilia is a genetic disorder that prevents blood from clotting normally. This disease, which develops due to the deficiency of clotting proteins in the blood, can be inherited genetically. It can lead to bleeding and prolonged bleeding episodes. There can be different types and degrees of hemophilia.
- Tay-Sachs Disease: Tay-Sachs is a genetic disorder characterized by the accumulation of harmful lipids in the brain due to the deficiency of an enzyme. This leads to neurological issues and mental retardation.
- Sickle Cell Anemia: Sickle cell anemia is characterized by the production of abnormal hemoglobin that prevents red blood cells from forming normally. This condition can cause anemia, painful crises, and organ damage.
- Cystic Fibrosis: Cystic fibrosis is a hereditary disease that affects the respiratory and digestive systems. The thickening of mucus and body fluids can lead to blockages in the airways and digestive problems.
- Huntington’s Disease: This disease is associated with a genetic mutation that causes the degeneration of nerve cells over time. It can have serious effects on movement control, thought processes, and emotional states.
Hereditary diseases can be identified through genetic counseling and tests. If there is a family history of a hereditary disease, it is important to consult a genetic specialist to understand the risks and possible treatment options. Genetic counseling can assist in the accurate diagnosis and management of hereditary diseases, helping families cope with such diseases and take preventive measures for future generations.
What Tests are Requested from Patients in Genetic Counseling?
There are various tests that may be requested from patients during the genetic counseling process. These tests are conducted to determine an individual’s genetic risks, detect hereditary disease carriers, or confirm the diagnosis of a disease. Generally, the genetic counselor recommends appropriate tests based on the patient’s family history and symptoms. Commonly requested tests during the genetic counseling process include:
- Genetic Tests: Genetic tests examine a person’s DNA to detect changes or mutations in the genes. These tests can be used to determine hereditary disease carriers and assess the risk of genetic diseases or for diagnosis.
- Carrier Status Tests: Some genetic diseases can be passed from parents to children, but parents often carry the disease as carriers and do not show symptoms. Carrier status tests determine whether a person carries a specific genetic disease.
- Preimplantation Genetic Testing (PGT): This test allows for the examination of embryos for genetic abnormalities during in vitro fertilization. This aims to select genetically normal embryos and have healthy children.
- Amniocentesis and Chorionic Villus Sampling (CVS): These tests are conducted to evaluate the genetic makeup of the fetus in the womb during pregnancy. In amniocentesis, a sample is taken from the amniotic fluid in the mother’s womb, while in CVS, a sample is taken from the placenta. These tests can help detect chromosomal abnormalities and some genetic diseases.
- Family Tree and Family History Assessment: Genetic counselors examine patients’ family histories and family trees to identify risk factors for hereditary diseases and recommend appropriate tests.
- Pharmacogenetic Tests: These tests are used to evaluate how a person processes certain medications and their relationship to side effects. This way, more effective and safer treatment options can be offered.
The genetic counseling process is important for understanding an individual’s genetic risks and taking appropriate precautions. Patients can collaborate with their genetic counselors to gain more information about their health conditions and their families’ health histories and make more informed health decisions.
If Genetic Tests Indicate Cancer Susceptibility, What Steps Should Be Taken?
If genetic tests indicate susceptibility to cancer, important steps should be taken for individuals. In this case, the following steps are generally followed:
- Evaluation and Counseling: The results of genetic tests are carefully evaluated by a specialized genetic counselor. The patient’s family history and personal health history are considered to assess cancer risk, and the individual’s questions are answered. The counselor can help them understand genetic risks and make decisions.
- Risk Group Determination: Genetic tests detect specific genetic changes or mutations that cause cancer susceptibility. These mutations can increase an individual’s risk of developing cancer. Based on the test results, the individual is assigned to a low, medium, or high-risk group.
- Early Diagnosis and Screening: Individuals with cancer susceptibility are advised to participate in regular screening programs for early detection of cancers. Early diagnosis can facilitate the detection of cancer in its early stages and the implementation of more effective treatment options.
- Healthy Lifestyle: Individuals with cancer susceptibility are encouraged to adopt a healthy lifestyle. Smoking, alcohol consumption, and unhealthy eating can increase cancer risk. Therefore, these risk factors should be avoided.
- Preventive Surgery: In some cases, individuals with cancer susceptibility may consider preventive surgery to reduce cancer risk. For example, women at high risk for breast cancer may consider mastectomy (breast surgery).
- Psychological and Emotional Support: The detection of cancer susceptibility can cause emotional difficulties for the individual and their family. It is important to seek psychological support during this process. Options such as joining support groups that help cope with cancer risk or receiving therapy can be considered.
- Consulting Family Members: Individuals with cancer susceptibility should recommend that family members also seek genetic counseling to assess their cancer risk. If there is a genetic predisposition to cancer in the family, preventive measures can also be taken for other family members.
The detection of cancer susceptibility can help individuals make more informed health decisions and take precautions against cancer. Additionally, the genetic counseling process can contribute to patients understanding their genetic risks and adopting a more informed and proactive approach to cancer. During this process, individuals should seek support and guidance from experts to protect their health and take preventive measures against diseases. The expert doctors and psychologists at Hisar Hospital Integrated Oncology aim to manage the situation in the best possible way by providing counseling to individuals. If you would like to receive genetic counseling, you can apply to Hisar Hospital.
