Genetic Counselling

Understanding your genetic information is easier when you have the guidance of an expert. Genetic counseling consists of informing, guiding, and supporting individuals and families who have a genetic condition or who may have a higher probability of developing it or passing it on. In a consultation, in person or online, a genetics specialist explains to the individual and their family what their situation means, what diagnostic or predictive tests may be indicated, and what options exist for their follow-up, prevention, or treatment. They also clarify what implications it may have for their relatives and for future generations.

1. Goals of genetic counseling:

According to the definition of the American Society of Human Genetics, genetic counseling seeks:

• Explain the diagnosis, predictable course, and treatment options for the genetic condition.

• Help understand how it is inherited and how likely it is to affect other family members.

• Facilitate adaptation to the condition and the possibility of it recurring in the family.

• Support each person in making decisions that best fit their goals and values.

• Make known the different reproductive options available.

2. Who can a genetic test help?

If you know, thanks to a DNA test or not, that there are several cases of cancer in your family, consult your primary care physician. If they consider that there may be a hereditary cause, they will refer you to the corresponding genetic counseling unit.

3. When is genetic counseling indicated?

• When a genetic test shows that you are a carrier of an inherited condition or identifies a variant relevant to your health.

• To interpret the result of a previous genetic analysis.

• When there is a family history of hereditary diseases or congenital anomalies.

• In family planning, to know the reproductive risk.

4. Situations in which it is advisable to request it

• Family history of hereditary diseases or cancer.

• Malformations detected at birth, single or multiple, anywhere on the body.

• Metabolic alterations in the newborn or infant during the first hours or weeks of life. They can manifest in very diverse ways, for example: hypotonia (lack of muscle tone); unusual odor of urine or sweat; persistent vomiting or difficulty gaining weight; respiratory distress; jaundice (yellowish skin color) or hepatomegaly (enlarged liver); lethargy or coma; unexplained bleeding; seizures that are difficult to control.

• Intellectual disability or developmental delay, especially if accompanied by unusual physical features (minor dysmorphias).

• Short stature or other growth disturbances.

• Ambiguous genitalia or disorders of sex development.

• Infertility or recurrent pregnancy losses.

• Desire for pregnancy from age 35, or in the presence of maternal diseases such as epilepsy or diabetes, or malnutrition.

• Consanguinity, that is, when the members of the couple are relatives.

• When it is known or suspected that one is a carrier of a relatively common genetic condition, such as cystic fibrosis.

• Degenerative genetic diseases with adult onset present in the family.

• Psychiatric disorders with a significant hereditary component in the family, such as schizophrenia.

• Exposure to agents that can damage genetic material or affect embryonic development, such as certain drugs or radiation, especially during pregnancy.