Possibilities and risks of genetic diagnosis

In the recent past, cytogenetic and molecular genetic methods led to an enormous increase in knowledge on genetic information. It reveals a correlation between the genetic information and the phenotype of an individual. Therefore, new starting points concerning the origin of diseases arise. A new nosology will develop. It will force researchers to emphasize more and more on the contribution of the--disturbed--genetic information system to the development of diseases. They will routinely carry out genome analyses on the following four already established levels: 1. phenotype level, 2. biochemical level, 3. chromosomal level, 4. molecular genetic level. Practicians mustn't close their mind to these new possibilities and methods: The three classical tasks of medicine--diagnosis, prevention and therapy--will be supplemented considerably by an earlier (presymptomatic) and more precise diagnosis that is furthermore independent of the organ. Moreover, there is the increasing possibility to predict the risk to develop a disease for descendants in certain partnerships more precisely and, if necessary, to diagnose prenatally. From the medical point of view, these advances are predominantly positive and to the patient's benefit. But it is pointed out that the diagnostic progress also raises new problems which were previously unknown. The answers will have to be given by society as a whole.