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.
- 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.
- Who can benefit from a genetic test? Anyone knowing that there are several cases of cancer in their family should go to their doctor for a first 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.
- Indications for genetic counseling:
- Diagnostic of a hereditary cancer or disease
- Confirmation of a previous clinical diagnostic.
- Family history of inherited diseases or connate defects.
- Family planning. Defining the reproductive risk.
- Reasons to request genetic counseling:
- When there is a family history of a hereditary disease or cancer.
- Deformities are detected after birth, single or multiple and from any part of the body.
- Metabolic changes that occur in the baby or the child within the first hours or weeks of life, with many manifestations, as hypotonia (sagging body), “unusual” smell, persistent vomiting, gaining weight difficulty, respiratory distress, jaundice (yellowing of the skin), hepatomegaly (enlarged liver size), lethargy, coma, unexplained bleeding and, in some cases, convulsive crises (abnormal involuntary movements) that are difficult to control.
- Mental retardation or developmental delay or where the developmental delay is associated with minor dysmorphic signs.
- Short stature or growth disorders.
- Ambiguous genitals or abnormal sexual development.
- Infertility, sterility or fetal loss.
- When a woman tries to achieve a pregnancy at an age of 35 or older, as well as to 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 in early adulthood, such as Huntington’s chorea.
- Behavior problems of genetic origin, such as schizophrenia.
- When someone has been exposed to potentially mutagenic or teratogenic agents.