German program using whole genome sequencing to diagnose rare diseases and cancer risk A program at the University Hospital of Tübingen is the first in Germany to use whole genome sequencing (WGS) to improve the diagnosis of rare diseases and hereditary cancers.
The program is led by Professors Tobias Haack and Olaf Riess from the Institute of Medical Genetics and Applied Genomics. While they will use whole genomes to diagnose rare conditions, they will also use the information to generate scores for the risk of common diseases based on genomic data - polygenic risk scores. A polygenic risk score is a risk estimation of developing a disease based on the total number of genetic changes related to that disease. They say that this data will help identify individuals that may benefit from personalized healthcare management.