[Genetic diagnosis in medicine. An overview of basic concepts and applications]

Currently, more than half of all known monogenic diseases are characterized at the molecular (DNA) level. This opens the possibility to verify clinically suspected disease at the molecular level, to predict future (late-onset) disorders, to diagnose many diseases prenatally, and to screen the population for genetic traits. Genetic tests that can be performed in Germany, Austria and Switzerland are listed in a database maintained by the German Board of Human Genetics. As of May 2006, 678 different diseases were amenable to DNA-based testing, and 147 institutions offered such tests. The actual genetic test utilisation cannot be determined accurately, but can be deduced from the database of the "Zentralinstitut der Kassenärztlichen Bundesvereinigung". Data have been calculated for the years 1996- 2002. In this time interval, the number of individuals undergoing genetic testing doubled approximately every three years. The total number in 2002 can be estimated at 220,000.