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

University Hospital Tuebingen

Status: Enrolling

Conditions: Genetic Predisposition to Disease; Rare Diseases

Treatments: Genetic: WGS Diagnostic: Blood take for genetic diagnostic

Study type: Interventional

Funder types: Other

Identifiers

NCT04760522

GE-MED APPROACH

Details and patient eligibility

About

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.

Enrollment: 12,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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12,000 participants in 1 patient group

WGS Diagnostic

Experimental group

Description:

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).

Treatment:

Genetic: WGS Diagnostic: Blood take for genetic diagnostic