Segundo a definição proposta em 1975 pela American Society of Human Genetics (ASHG), o Aconselhamento Genético “consiste no processo de comunicação que trata de problemas humanos relacionados com a ocorrência e o risco de recorrência de uma doença genética em uma família”.
Genetic counseling or counselling (British English) 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 in order to prevent, avoid or ameliorate it. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive aspects.