Genetic counselling is a process by which patients or the relatives of patients who have suffered, are suffering or are at risk of suffering a genetic disease are provided with information about the condition and psychological support.

Genetic counselling considers aspects such as the nature of the disease and its consequences, the likelihood of developing or transmitting the condition, the diagnostic tests available and family planning prevention options.

Indications

The evolution of genetic testing over the last few years and the high global prevalence of genetic diseases have made genetic counsellors an essential part of the healthcare system.

The purpose of genetic counselling is to provide information regarding hereditary risks and diseases, so that individuals can make their decisions based on their own needs, circumstances, values and beliefs.

There are numerous and varied scenarios where genetic counselling is required. Not only is it necessary when a clearly genetic disease is diagnosed, but it is also essential in the evaluation of personal and family histories related to conditions such as cancer, neurodegenerative disorders, heart diseases or mental/developmental retardation. Other contexts, such as desiring detailed information about risks and genetic testing prior to or during pregnancy, also require specialised genetic counselling.