Diagnostic Value of Exome/ Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes

Recruiting

• Conditions: Genetic Predisposition; Rare Diseases
• Interventions: Genetic: Retrospective data analysis

• Registration Number: NCT04731857
• Lead Sponsor: University Hospital Tuebingen

Brief Summary

For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.

Detailed Description

The methodological developments of the last few years allow the broad use of next-generation-sequencing (NGS) -based methods in the routine molecular genetic diagnosis of genetic diseases.The aim of the retrospective data analysis is to create a solid data basis for further discussion regarding the development and mapping of diagnostic algorithms and subsequent supply routes. For the genome data, this evaluation is to be expanded to include the evaluation of the Polygenic risk scores (PRSs) in the sense of an additional finding.

Study Timeline

• Study First Submitted: 2021-01-26
• Study First Submitted QC: 2021-01-26
• Study First Posted: 2021-02-01
• Study Start: 2021-02-18
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-25
• Last Update Posted: 2025-03-30
• Primary Completion: 2026-02
• Study Completion: 2027-02

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 12000

Inclusion Criteria

• Patient with genetic disease or
• Family members
• Genetic analysis between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Genetic diseases	Retrospective data analysis	For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.

Primary Outcome Measures

Name	Time	Method
Diagnosis	Day 1	Number of established probable diagnosis using molecular genetic diagnostics

Trial Locations

Locations (1)

University Hospital Tübingen; 🇩🇪 Tübingen, Germany