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Secugen - Genetic Diagnostic - Genetic Counseling

What is genetic counseling?

Genetic counselling is the process by which patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning. This process considers the occurrence, or over the risk of occurrence of a possible genetic disorder in a family.

This process, carried out by a trained person, is intended to help the patients or their families to:

  • Understand the concepts of the disorder.
  • Understand the options to avoid the risk of recurrence.
  • Being aware of how heredity contributes to the disorder and the risk of recurrence in their families.
  • Use this genetic information on an individual basis, in order to promote health, minimize psychological trauma and increase personal control on the disorder.
  • Choose the most appropriate course of action taking in account the individual and family risks, and act in accordance with that decision.
  • Take the necessary actions to get adapted to the disorder and to the recurrence risk of the disorder, both in the patient and in the affected family members.





Who should go to a genetic counseling consultation?

  • Those who have symptoms of having a genetic disorder, in order to make the tests necessary to confirm or exclude the evidence of the genetic condition of the disorder. Whether the result could be positive or negative, the entire family may require appropriate genetic counselling.
  • Those persons who are completely healthy, but his family has a monogenic disease associated with the presence of a mutation, and therefore, they may have a high risk of suffering for the same disorder with a late onset.
  • Those persons who are completely healthy but they want to know if they have an increased risk for suffering a multifactorial genetic disorder. In some cases it is possible to perform a genetic risk analysis.
  • Those persons who are most likely carriers of a genetic disorder which does not affect their health, in order to detect whether they are or not carriers, and to determine the consequences for their offspring.
  • Those persons wishing to make a prenatal test to detect a mutation or chromosomal anomaly that exists in the family or because they have a suspicion because of anomalous sonographic findings in the fetus.
  • Those persons wishing to undergo in vitro fecundation because his family has a high risk of suffering an inherited disorder or a chromosomal anomaly, and wish to test the presence of this mutation or chromosomopathies in the embryo and thus only implant healthy embryos.
  • Those persons, who remain healthy and do not have a high individual or family known risk of developing a genetic disease, but wish to carry out a genetic analysis in any of the genetic disorders that are known.

What is the genetic counseling consultation?

A personal and family history of the disorder that is consulted will be developed in the genetic counselling session. It is therefore desirable to provide all possible reports available in relation to the disease concerning all the relatives having the same disorder.

During the consultation the disease will be explained in detail and any doubt you or your family may have will be answered. Once the consultation process is completed, or within the next few days, you will receive a report summarizing the information provided.

If it is necessary to perform a genetic test, samples of the patient and the family will be collected, usually blood (no preparation is necessary) or saliva, except in cases of prenatal diagnostic where amniotic samples could be required. Once the results of the genetic test were completed, you will be appointed to become informed of these results.