Genetic counseling is a service that informs future generations of people affected by a familial disease. Genetic counseling also explains the risk of first-degree and second-degree relatives carrying the disease. It is a service that informs these people about the possible consequences.
What is Genetic Counseling?
Genetic counseling; The exact diagnosis of the person receiving genetic counseling, heredity, evaluation of individuals at risk, recurrence risks, treatment possibilities and reproductive options are evaluated.
What are the stages of genetic counseling?
The stages ofgenetic counseling are as follows;
- At the beginning of the genetic counseling process, the family tree of the families is first drawn up.
- It is understood what the health status of all known members of the family is.
- All available medical data are examined.
- Necessary genetic tests are performed to establish the diagnosis or to confirm a suspected diagnosis.
- If there is a disease, information is given about what the disease is, how it will progress in the long term, as well as the problems it may cause, its consequences and precautions that can be taken, and treatment, if any.
- The risk of genetic diseases for other family members or future children is determined.
Who Needs Genetic Counseling?
People with the following conditions should seek genetic counseling;
- At least one partner has a genetic disease
- People with hereditary diseases in at least one of the spouses' relatives
- At least one partner is a carrier of a genetic disease
- People who marry relatives
- People who have undergone radiation or drug treatment during pregnancy,
- Alcohol and drug abuse and people who have had a viral infection during pregnancy,
- People who want to become a mother at an advanced age to be informed about the risks,
- People who have experienced recurrent miscarriage,
- Families with planned prenatal diagnosis,
- People with a history of cancer,
Who Provides Genetic Counseling?
Genetic counseling should definitely be provided by experts, otherwise it may cause unwanted consequences. The following people and institutions can provide genetic counseling;
- Medical Geneticists working in private or public hospitals
- Academicians and research doctors specialized in Medical Genetics at universities
- Specialist doctors in private and public genetic diagnosis centers
How is Genetic Counseling Examination Performed?
Examination in genetic counseling is the detection of human DNA, RNA, chromosomes, proteins and certain metabolites of chromosomes related to hereditary disease. These tests are individualized. Genetic tests are divided into DNA-based genetic tests and chromosome-based genetic tests. The test is performed by taking a blood sample (2 mL) or tissue. There is a 5-day study period after the sample is taken. Following these procedures, the examination period lasts 2-3 days (except in exceptional cases). After passing the three-stage control, the reporting period is 14 days on average.
Diseases Requiring Genetic Counseling
Genetic counseling should be sought when these diseases are observed. If individuals receive genetic counseling during marriage, these diseases can be solved before they are seen.
- Mediterranean Anemia (Thalassemia):
Thalassemia can be seen in three different forms as minor, major and intermia. It can be recognized by complaints such as growth retardation, tachycardia (heart palpitations), fragile bone structure. The most prominent feature is enlargement of the heart.
- Albinolism (Albinism):
It is seen when the melanin substance (color pigments) that gives color to human skin is less than normal. Patients have white hair and eyebrows. Their skin is much thinner than normal.
- Daltonism (Color Blindness):
Patients cannot perceive shades of color accurately.
- Down Syndrome:
Occurs as a result of having an extra chromosome number. Individuals with Down Syndrome have learning difficulties, speech and movement deficits.
- Hemophilia (Bleeding Clotting Disorder):
The patient's body is unable to produce certain proteins that enable the blood to clot. As a result, the patient's bleeding can only be stopped by a doctor.
