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NCT Number: NCT04731857

Diagnostic Value of Exome/ Genome Sequencing, 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.

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Key information

Conditions

Rare Diseases Disease Attributes Disease Susceptibility Genetic Predisposition Genetic Predisposition to Disease Genetic Risk Score Pathologic Processes Pathological Conditions, Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

  1. Diagnosis

    Time frame: Day 1

    Number of established probable diagnosis using molecular genetic diagnostics

Study contacts

Contact information is provided by the study sponsor or research team.

Olaf Rieß, Prof. Dr.

CONTACT

[email protected]

+49 7071 298 ext. 72288

Tobias Haack, Dr.

CONTACT

[email protected]

+49 7071 298 ext. 77696

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Official study title

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

Acronym: EXGEFATU

Important dates

Study start
2021
Primary completion
2030
Study completion
2031
First posted
Feb 1, 2021
Registry last updated
May 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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