Genome-based Management for Patients with Rare or Genetic Diseases Using Whole Genome Sequencing in Precision Medicine

What this Trial Is About

Researchers are investigating a new approach to diagnosing rare diseases and genetic predispositions by using Whole Genome Sequencing WGS as a first-line diagnostic test. The study aims to integrate personalized medicine concepts, including predictive and preventive care, into standard clinical practice through a novel decentralized structure called Disease Analysing Task Forces DATF. This project will enroll about 12,000 patients who have unclear molecular causes of their diseases and have not undergone detailed genetic analysis like Whole Exome Sequencing WES. Participants will undergo blood sampling and clinical evaluation, including collecting medical history and family pedigree. The study will perform Next Generation Sequencing NGS along with other advanced molecular analyses such as transcriptomics, proteomics, and metabolomics. These procedures are part of the WGS diagnostic approach being tested to improve genetic diagnosis for rare diseases and familial cancer syndromes. During the study, participants will provide samples and clinical information to support genomic analysis. Researchers will measure the number of WGS analyses performed as the primary outcome. The study is conducted without masking, and participant involvement includes blood draws and clinical assessments to better understand genetic causes. The trial is sponsored by University Hospital Tuebingen and will continue through July 2027.

Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program