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The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing. This has induced new expectations, and new demands, from both families and physicians regarding genetic counselling, DNA testing and application of this knowledge in clinical practice. A new task for cardiologists is therefore to integrate these data in order to give the most relevant information to the patients and the relatives, to discuss genetic testing, and to use the data to optimise the management of the family. At the same time the various impacts of genetic management such as psychological, social, ethical and legal issues should be recognised, anticipated and taken into account. This is possible through a close collaboration between cardiologists and members of other medical or non-medical disciplines such as geneticists, genetic counsellors, psychologists, and molecular biologists.
The present paper focuses on some of the practical issues the cardiologist may be facing in the context of a monogenic disorder.
GOALS OF GENETIC COUNSELLING
Genetic counselling has been defined as a communication process which deals with the human and psychological problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family.1 The general aim is to serve the interest of the family, either patients or relatives, and the primary responsibility is to provide information as accurately as possible. The process involves an attempt to help the individual or the family to reach several objectives: (1) understand the medical facts, including the diagnosis, the probable course of the disorder and the available management; (2) appreciate how heredity contributes to the disorder and, after reviewing the family history and the pedigree analysis, determine the risk of recurrence in specified relatives; (3) understand …
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