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

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.

Study Overview

• Status: Recruiting
• Conditions: Genetic Predisposition to Disease; Rare Diseases
• Intervention / Treatment: Genetic: WGS Diagnostic: Blood take for genetic diagnostic

• Study Type: Interventional
• Enrollment (Estimated): 12000
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Andreas Dufke, PD Dr.; Phone Number: 72190 +49 7071 29; Email: andreas.dufke@med.uni-tuebingen.de
• Study Contact Backup: Name: Olaf Rieß, Prof. Dr.; Phone Number: 72323 +49 7071 29; Email: olaf.riess@med.uni-tuebingen.de

Study Locations

• Germany
  • Tübingen, Germany, 72076
    • Recruiting
    • University Hospital Tübingen
    • Contact: Andreas Dufke, PD Dr.; Phone Number: +49 7071 29; Email: andreas.dufke@med.uni-tuebingen.de
    • Contact: Olaf Rieß, Prof. Dr.; Phone Number: 72323 +49 7071 29; Email: olaf.riess@med.uni-tuebingen.de

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: WGS Diagnostic; 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; Blood sampling, short clinical characterization, WGS based sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics).

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University Hospital Tuebingen
• Investigators: Study Director: Olaf Rieß, Prof. Dr., University Hospital Tübingen

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2021
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2027

Study Registration Dates

• First Submitted: February 16, 2021
• First Submitted That Met QC Criteria: February 16, 2021
• First Posted (Actual): February 18, 2021

Study Record Updates

• Last Update Posted (Actual): November 29, 2023
• Last Update Submitted That Met QC Criteria: November 28, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Rare Diseases; Genetic Predisposition; Whole Genome Sequencing (WGS); Whole Exome Sequencing (WES); Familial cancer syndromes; Polygenic Risk Scores (PRS)
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Genetic Predisposition to Disease; Rare Diseases
• Other Study ID Numbers: GE-MED APPROACH

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: 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
• IPD Sharing Time Frame: Data will become available after analysis and unlimited.
• IPD Sharing Access Criteria: Authorized users within the participating organizations.
• IPD Sharing Supporting Information Type: ANALYTIC_CODE

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No