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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| WGS Diagnostic | Experimental | Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease. Study related procedures: Blood sampling, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics). |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| WGS Diagnostic: Blood take for genetic diagnostic | Genetic | Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics). |
| Measure | Description | Time Frame |
|---|---|---|
| Number of WGS analysis | WGS analysis as a first line diagnostic test for all clinical indications | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Olaf Rieß, Prof. Dr. | Contact | +49 7071 29 | 72323 | olaf.riess@med.uni-tuebingen.de |
| Andreas Dufke, PD Dr. | Contact | +49 7071 29 | 72190 | andreas.dufke@med.uni-tuebingen.de |
| Name | Affiliation | Role |
|---|---|---|
| Olaf Rieß, Prof. Dr. | University Hospital Tübingen | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Tübingen | Recruiting | Tübingen | 72076 | Germany |
The GE-MED APPROACH study will provide data in a pseudonymized manner to national and international databases set up to increase the diagnostic yield through advanced analysis tools and matchmaking against other cohorts
Data will become available after analysis and unlimited.
Authorized users within the participating organizations.
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| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| D020022 | Genetic Predisposition to Disease |
| D000096442 | Genetic Risk Score |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D004198 | Disease Susceptibility |
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