Genetic counseling can be thought of a long discussion between the patient and genetic counselor, during which questions regarding hereditary of specific diseases are discussed. Those seeking advice may be affected patients, family members who may be carriers of a disease, or parents who may wish to learn about the risk of further transmission. The genetic counselor is a specialist in genetics/molecular biology and thus a specialist in hereditary diseases, modes of inheritance, and scientific approaches to diagnosis and treatment. During the counseling, the familial disease data is collected and pedigree is generated.

The consultation also includes a discussion of the potential impact of this knowledge on family planning, health of the person and putative risk of this disease in their next progeny. Once the analysis of the genetic material has been completed, the findings will be discussed with the family and concept of major trait, carrier and percent chances of effected individuals in next births will also be communicated. The patient will also be informed of any relevant studies being performed by specialists in specific medical fields. In some cases, particularly for affected children, in whom a counselors are not able to make a diagnosis at the time of first visit, a re-visit at a later date would also be recommended.