RecruitingNCT04731857

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

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

Sponsor

University Hospital Tuebingen

Enrollment

12,000 participants

Start Date

Feb 18, 2021

Study Type

OBSERVATIONAL

Conditions

Rare Diseases Genetic Predisposition

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.

Eligibility

Plain Language Summary

Simplified for easier understanding

This study evaluates whether advanced DNA testing (whole exome or whole genome sequencing) leads to better diagnoses for patients with rare genetic diseases or inherited cancer syndromes compared to standard genetic tests. **You may be eligible if...** - You have a known or suspected genetic condition, rare disease, or inherited cancer syndrome - OR you are a family member of someone with such a condition - Your genetic analysis was performed between October 2016 and December 2020 at the University Hospital Tübingen Institute for Medical Genetics **You may NOT be eligible if...** - Your genetic testing was performed outside the specified time period or at a different institution - You do not have a genetic condition or family history of one Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICRetrospective 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.