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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases; Genetic Predisposition
• Intervention / Treatment: Genetic: Retrospective data analysis

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 Type: Observational
• Enrollment (Estimated): 12000

Contacts and Locations

• Study Contact: Name: Olaf Rieß, Prof. Dr.; Phone Number: 72288 +49 7071 298; Email: olaf.riess@med.uni-tuebingen.de
• Study Contact Backup: Name: Tobias Haack, Dr.; Phone Number: 77696 +49 7071 298; Email: tobias.haack@med.uni-tuebingen.de

Study Locations

• Germany
  • Tübingen, Germany, 72076
    • Recruiting
    • University Hospital Tübingen
    • Contact: Haack Tobias, Dr.; Phone Number: 72696 +49 7071 29; Email: tobias.haack@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

• Sampling Method: Probability Sample

Study Population

Patients with genetic diseases of any age and, if present, other family members, for whom genetic analyzes were carried out between 10/2016 and 12/2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Genetic diseases; 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.

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnosis	Number of established probable diagnosis using molecular genetic diagnostics	Day 1

Collaborators and Investigators

• Sponsor: University Hospital Tuebingen
• Investigators: Principal Investigator: Tobias Haack, Dr., University Hospital Tübingen

Study record dates

Study Major Dates

• Study Start (Actual): February 18, 2021
• Primary Completion (Estimated): February 1, 2030
• Study Completion (Estimated): February 1, 2031

Study Registration Dates

• First Submitted: January 26, 2021
• First Submitted That Met QC Criteria: January 26, 2021
• First Posted (Actual): February 1, 2021

Study Record Updates

• Last Update Posted (Actual): May 4, 2026
• Last Update Submitted That Met QC Criteria: April 28, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Rare Diseases; Genetic Predisposition; Genetic variation; Next Generation Sequencing (NGS); Polygenic risk scores (PRSs); Repeat-Expansion
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Disease Susceptibility; Pathological Conditions, Signs and Symptoms; Genetic Risk Score; Rare Diseases; Genetic Predisposition to Disease
• Other Study ID Numbers: EXGEFATU

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No