Using genomic tools like SNP microarrays in whole genome association studies and Next Generation Sequencing (NGS), markers and actionable genetic targets have been identified
for common complex diseases, like various types of cancer, neuronal disorders or metabolic and heart diseases. These marker panels can now be used for improving diagnostic procedures, patient stratification, outcome prediction and to optimize individualized treatment strategies. In addition, we know more than 7000 rare diseases affecting all together about 7% of the total population. The WHO estimates that over 300.000.000 individuals are globally affected, predominantly children and newborns. Due to their low population penetrance (>0.05%) these disorders are very difficult to diagnose. Even in countries with a well-developed healthcare system like the USA, it takes on average 7.6 years (in UK 5.6 years) to identify rare diseases, far too long especially for  newborns, that account for over 50% of the cases. Whole genome and exome sequencing, as well as sequencing large panels with known target regions can significantly speed up the identification and characterization of these rare diseases and open new options for therapy selection. These technologies supply the input of large global databases that will continuously improve and speed up the development of diagnostic and treatment procedures, using the combined resources of the global research community.