ABSTRACT

The goal of genetic counseling is to provide accurate, up-to-date and comprehensive information related to inherited diseases in patients, their offspring or family members. Such information should be given in a non-directive manner and in an empathic atmosphere using the simplest possible terminology. At the end of this process, the patient and the counselor should be able to reach mutual informed management decisions. To achieve this objective, relevant family, pregnancy and medical histories are initially obtained. Thereafter, appropriate genetic testing, other diagnostic modalities or therapeutic means, when indicated, should be offered to the patient. Although most genetic counselors act along these lines, it is still surprising how differently information given to the patient is actually conceived and how often, despite all efforts, significant parts of the information are either misunderstood, misinterpreted or forgotten.