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

Genetic Predisposition Clinical Trial

— EXGEFATU  

Official title:

Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04731857
• Other study ID #: EXGEFATU
• Status: Recruiting
• Start date: February 18, 2021
• Est. completion date: February 2025

Study information

• Verified date: November 2023
• Source: University Hospital Tuebingen
• Contact: Tobias Haack, Dr.
• Phone: +49 7071 298
• Email: tobias.haack[@]med.uni-tuebingen.de
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 12000
• Est. completion date: February 2025
• Est. primary completion date: February 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition
• Genetic Predisposition to Disease
• Neoplasms
• Neoplastic Syndromes, Hereditary
• Rare Diseases

Intervention

Genetic:
• Retrospective data analysis
The outlined evaluation contributes to the improvement of molecular genetic diagnostics in patient care - for example when which diagnostics can be sensibly recommended for patients with which indications or not. Diagnostic gaps can be systematically evaluated and specifically addressed in the future. This potentially affects every examination assignment for current and future patients. In addition, the evaluation of the PRSs for example, can contribute significantly to the timely introduction to routine diagnostics. For familial breast cancer, according to the guidelines, there may be very specific preventive measures. Estimates currently assume up to 5% of patients, which would mean up to 25 cases per year with a potentially adapted management for patients with the question of a tumor disease alone.

Locations

Country	Name	City	State
Germany	University Hospital Tübingen	Tübingen

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnosis	Number of established probable diagnosis using molecular genetic diagnostics	Day 1