Abstract

The introduction of next-generation sequencing technologies in human genetic diagnostics is a challenge to many of its aspects. It is mainly positive, even revolutionary, which will be discussed as well as its critical aspects. It used to take several months or years to complete genetic testing. This already belongs to the past. As sequencing technologies are progressing at an extremely high speed, Germany recently introduced the new Gen Diagnostics Law in February 2010. Four common diseases with genetic contribution (dementia, Parkinson syndrome, epilepsy, and hereditary eye diseases) will be used to exemplify the latest development of human genetic testing.