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

NCT04731857 | Recruiting

• 1 other identifier: EXGEFATU
• Study Type: observational
• Target: 12,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Rare Diseases; Genetic Predisposition

Keywords

Rare Diseases; Genetic Predisposition; Next Generation Sequencing (NGS); Polygenic risk scores (PRSs); Repeat-Expansion; Genetic variation

Outcome Measures

Primary Outcomes (1)

• Diagnosis

  Number of established probable diagnosis using molecular genetic diagnostics

  Day 1

Study Arms (1)

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

Interventions

Retrospective data analysis GENETIC

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.

Genetic diseases

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• \- None

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

University Hospital Tübingen

Tübingen, 72076, Germany

RECRUITING

MeSH Terms

Conditions

Rare Diseases; Genetic Predisposition to Disease; Genetic Risk Score

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Disease Susceptibility

Study Officials

• Tobias Haack, Dr.

  University Hospital Tübingen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Tobias Haack, Dr.

CONTACT

+49 7071 298; tobias.haack@med.uni-tuebingen.de

Olaf Rieß, Prof. Dr.

CONTACT

+49 7071 298; olaf.riess@med.uni-tuebingen.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2021
• First Posted: February 1, 2021
• Study Start: February 18, 2021
• Primary Completion (Estimated): February 1, 2030
• Study Completion (Estimated): February 1, 2031
• Last Updated: May 4, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)