Genetic Counselling

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Genetic counseling consists in informing, educating and supporting people and families who have a genetic disease or have a risk of suffering it. During genetic counseling (online or face to face), the doctor informs the person and family about risks, providing diagnostic and susceptibility tests and proposing actions, also explaining the risks for future generations, and proposing different treatments or preventive measures.

1. Objectives of genetic counseling:

According to the American Society of Human Genetics, genetic counseling´s objectives are:

Report about diagnostic, prognostic and treatment of the genetic disorder.

Allow the understanding of the hereditary mechanism and the probability or risk to other family members.

Propose different reproductive options to reduce the risk.

Bring on individual choices of acceptable options, depending on personal risk perception, goals and values.

Facilitate adaptation to the presence of the disorder and the risk of recurrence.

2. Who can benefit from a genetic test?

Anyone who, whether or not through a DNA test, is aware that there are several cases of cancer in their family should visit their primary care physician for an initial assessment.  If the doctor thinks there is evidence of a hereditary disorder he will refer them to the nearest unit of genetic counseling. Also those who want to learn more about their genetic information to know the risks of developing complex or polygenic diseases, those who want to know if the treatment they are undertaking is using the appropriate drugs for their genetic composition. Also those who want to know if they are carriers of several monogenic diseases, in order to not to transmit it to their descendants.

3. Indications for genetic counseling:

Diagnostic of a hereditary cancer or disease

Confirmation of a previous clinical diagnostic.

Family history of hereditary diseases or congenital anomalies.

Family planning. Defining the reproductive risk.

4. Reasons to request genetic counseling:

When there is a family history of a hereditary disease or cancer.

When single or multiple deformities are detected after birth, in any part of the body.

Metabolic disruptions that occur in the newborn or the infant within the first hours or weeks of life, with many manifestations as hypotonia (body flabbiness), “unusual” smell, persistent vomiting, weight gain difficulty, respiratory distress, jaundice (yellowing of the skin), hepatomegaly (enlarged liver), lethargy, coma, unexplained bleeding and, in some cases, convulsive seizures (abnormal involuntary movements) that are difficult to control.

Intellectual disability or developmental delay, as well as when the delay is associated with mild dysmorphic signs.

Short stature or growth disorders.

Ambiguous genitals or abnormal sexual development.

Infertility, sterility or fetal loss.

When a woman tries to achieve pregnancy at an age of 35 years old or older, as well as in certain systemic conditions such as maternal malnutrition, epilepsy and diabetes mellitus.

When there is positive consanguinity (relations among relatives).

When it’s known that they are carriers of a common genetic disease such as cystic fibrosis.

Degenerative genetic diseases with early adulthood onset.

Behavioral problems of genetic origin, such as schizophrenia.

When someone has been exposed to potentially mutagenic or teratogenic agents.

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