Abstract
Background: Clinical or medical genetics deals with the study and diagnosis of genetic diseases. It is oriented to the formulation of the clinical diagnosis of genetic diseases and genetic counseling, in order to evaluate the possible reproductive risk for the patient and his family. The geneticist is also called to play a diagnostic and preventive role for some of the most frequent diseases, such as cardiovascular disease and cancer. Methods: State-of-the-art by literature review. Results: Genetic counseling is a tool that should help consultants to make decisions regarding the possibility of developing and/or transmitting genetic diseases, helping to evaluate the possible choices that can be made once genetic testing has been carried out and its result is known (possible therapies, voluntary pregnancy interruption, etc.). The decision on what to do is always autonomous to the consultants and the doctor (or, in any case, the qualified professional figure) has no managerial role. Genetic testing is an examination that can be done on deoxy-ribonucleic acid (DNA) as well as on other substances using different methods. Conclusions: In doing genetic testing, one should never dwell on one single “suspect” side of the family. This is both not to generate inappropriate stress and guilt, and not to underestimate the risk of transmission of other diseases (even more serious) on the other hand.
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