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

Study Overview
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Brief Summary
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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.

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

Conditions
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Rare Diseases, Genetic Predisposition to Disease

Intervention / Treatment
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* Genetic: WGS Diagnostic: Blood take for genetic diagnostic


Participation Criteria
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Eligibility Criteria
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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
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: WGS Diagnostic<br>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). | Genetic: WGS Diagnostic: Blood take for genetic diagnostic<br>* Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of WGS analysis | WGS analysis as a first line diagnostic test for all clinical indications | Day 1 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Polygenic Risk Scores (PRS), Rare Diseases, Genetic Predisposition, Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Familial cancer syndromes