Genetic Predisposition to Disease, Rare Diseases
Conditions
Keywords
Rare Diseases, Genetic Predisposition, Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Familial cancer syndromes, Polygenic Risk Scores (PRS)
Brief summary
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES). The novelty of this study is to integrate genomic health concepts into immediate clinical care. To achieve these goals, a novel structure for the Triple P (3P) concept of personalized medicine (Personalized, Predictive, Preventive) integrated into a well-established health care system and associated with novel decentralized Disease Analysing Task Forces (DATF) will be implemented. The overall goal of this study is to implement, for the first time, Whole Genome Sequencing (WGS) analysis as a first line diagnostic test for all clinical indications such as Rare Disease (RD )and familial cancer syndromes.
Interventions
GENETICWGS Diagnostic: Blood take for genetic diagnostic
Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).
Sponsors
University Hospital Tuebingen
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Unclear molecular cause of the disease * Suspected genetic cause of the disease
Exclusion criteria
* Missing informed consent of the patient and if applicable the legal representative * Previously performed WES or panel analysis
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of WGS analysis | Day 1 | WGS analysis as a first line diagnostic test for all clinical indications |
Countries
Germany
Contacts
Primary ContactOlaf Rieß, Prof. Dr.
Backup ContactAndreas Dufke, PD Dr.
Outcome results
None listed