Genetic counseling is a branch of clinical and medical genetics that examines the probability of occurrence (risk of occurrence) of completely genetic diseases or diseases in which genetics plays an important role. In examining genetic diseases, the genetic counselor has the first level of contact with the patient, his family, and relatives. Genetic counseling services play an essential role in the birth of a healthy baby and reducing the prevalence of disabilities in the family, which focuses not only on the primary patient but also on the patient's family members and relatives, both now and in the future.
- What questions does genetic counseling answer?
- What is the main and medical nature of the disease?
- Has the disease occurred in that person or family consulted?
- Is the disease hereditary or does inheritance play an important role in causing it?
- How likely is it to occur again in other family members?
- Does the course of the disease improve, remain stable, or progress?
- Is there a way to treat or control and manage the disease?
- How can it be prevented from recurring in other family members?
- When can genetic counseling be done?
- The most appropriate time to conduct genetic counseling is before marriage, according to the studies conducted in Iran, it is recommended that all people, whether relatives or non-relatives, do genetic counseling before marriage.
- If the couple has not done this before marriage, they can go for genetic counseling before pregnancy, during pregnancy, or after delivery.
Cases in which genetic counseling is necessary:- Existence or suspicion of any hereditary disease in the family or relatives
- Existence of any disability or mental deficiency in the family or relatives
- History of any chromosomal abnormality in the family or relatives (such as Down syndrome, etc.)
- Pregnancy of the mother before the age of 18 and over the age of 35
- Father's old age (more than 45 years old)
- Repeated abortions (2 or more abortions) and stillbirth
- Sterility or sterility in women
- Sterility in men
- Genetic counseling before marriage (it is especially important in consanguineous marriages)
- Existence or history of any sexual organ ambiguity in the family or relatives
- Early or late puberty in the girl or boy of the family
- Existence of a person suffering from physical abnormalities (including the abnormal appearance of organs) in the family or relatives
- Metabolic disorders such as diabetes and increased blood fats
- Exposure of the pregnant mother to toxic substances, chemicals, infectious agents, and harmful rays
- History of progressive nervous system diseases in family or relatives
- History of breast, colon, or ovarian cancer in the family or relatives
- Existence of people suffering from common diseases such as cardiovascular diseases, blood pressure, fat increase, etc. in the family and relatives (if the incidence rate in the family or relatives is more than usual or it is caused at a young age)
- Short stature and growth disorder
- Behavioral disorders
- Identification of people carrying genes for diseases such as thalassemia, hemophilia, and sickle cell anemia
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In genetic counseling, whose presence is necessary and how many times does it take place?
In most cases, genetic counseling takes place in one or two sessions. In cases where a genetic disease is seen in the family and there is a need to get the opinion of other medical experts, it may be necessary to refer several times. Since the basis of work in genetic counseling is to take a complete history, especially family history and draw a detailed genealogy and calculate the risk level, therefore, if the couple does not have enough information about family relationships and diseases in their relatives, it is appropriate. Informative people should accompany them during the consultation.
- Should genetic counseling be accompanied by expensive genetic tests?
In most cases, after genetic counseling, there is no need to do any tests (especially genetic tests). Only in a few cases, there is a need to perform routine tests or in some cases genetic tests, which are done with the opinion of a medical genetics specialist and the family's consent.