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Genetic counseling is the process of acquiring information on genetic disorders. The genetic counselor translates scientific genetic data into practical information that individuals who are unfamiliar with the subject can understand and use to help them make decisions.
During the genetic counseling process, people who have an inherited disease in themselves or in their family or who are at risk of being a hereditary carrier are informed about diagnostic tests that may be applied to determine the risk, the course of the disorders, the risks of recurrence, the compatibility with life, the financial and spiritual burdens that the patient may bring to the family, the treatment if any, and other remedies.
Our geneticists within the DNA Laboratories Genetic Disorders Assessment Center provide consultancy services. Their task is to convey information about the disorder accurately and completely and to provide solutions.
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WHO CAN RECEIVE GENETIC COUNSELING?
- Presence of a carrier of a genetic or hereditary disorder or the disorder itself in the family or individual
- Single-gene disorders
- Chromosomal disorders
- Multifactorial disorders
- Mitochondrial disorders
- Presence of a child or children with genetic disorders
- Mental retardation
- Developmental retardation and short stature
- One or more malformations
- Gender development anomalies
- Relative marriages
- Advanced maternal age (≥35)
- Cases found to be positive in newborn screenings and routine tests before marriage (Phenylketonuria, Thalassemia, etc.)
- Recurrent miscarriages
- Medication use before pregnancy or during pregnancy
- Exposure to radiation during pregnancy (X-ray, tomography, etc.)
- Problems detected in the baby during pregnancy (Abnormal USG finding)
- Presence of familial transitional cancers in the family tree (Breast, Colon, Lung, etc.)
- Male and female infertility
- Some diseases that are symptomatic at an advanced age (such as Huntington),
- Anxiety
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HOW IS THE GENETIC COUNSELING PROCESS?
First, a detailed family medical history is taken in genetic counseling. A detailed family tree is drawn in light of the information. If there is a sick child or adult, a detailed clinical examination is performed. All kinds of medical records, test results, radiological imaging reports (such as USG, MR, CT) of this individual are examined. Besides, additional routine examinations may be required. Genetic tests that are performed to determine the risk or to make a genetic diagnosis of the disorder are planned in light of these results.
If the disorder has been diagnosed or a genetic cause has been detected after these procedures, the patient is informed about the problems that the disorder may cause and its consequences. Genetic risks of patients and other family members are explained. Information and support are provided about treatment options, if any, along with ways to reduce the risk of disorder. Likewise, couples are informed about the risk of genetic disorder that may be present in their children to be born and the tests to be performed before and after pregnancy in the family counseling given to couples.
The risks identified after these procedures may vary from the absence of risk of recurrence in new pregnancies of couples to the risk of all their children being born sick. If the inheritance pattern of the disorder is determined in undiagnosed families, information is given to the family about the risks of recurrence.
The genetic counselor provides information to sick individuals or families about the most appropriate diagnosis, treatment, and follow-up option, if necessary, in coordination with other clinical branches in all these processes. The patient should be contacted, the information should be shared in the most accurate way, support should be provided, but the consultant should not be guiding in the decision-making phase.
You can review our test list or contact us for further information and panel contents about the tests.
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