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

Genetic Predisposition Clinical Trial

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

Status Recruiting

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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

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

• NCT number: NCT04731857
• Study type: Observational
• Source: University Hospital Tuebingen
• Contact: Tobias Haack, Dr.
• Phone: +49 7071 298
• Email: tobias.haack@med.uni-tuebingen.de
• Status: Recruiting
• Start date: February 18, 2021
• Completion date: February 2025