Genetic Predisposition, Rare Diseases
Conditions
Keywords
Rare Diseases, Genetic Predisposition, Next Generation Sequencing (NGS), Polygenic risk scores (PRSs), Repeat-Expansion, Genetic variation
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.
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.
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.
Sponsors
University Hospital Tuebingen
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnosis | Day 1 | Number of established probable diagnosis using molecular genetic diagnostics |
Countries
Germany
Contacts
CONTACTTobias Haack, Dr.
CONTACTOlaf Rieß, Prof. Dr.
PRINCIPAL_INVESTIGATORTobias Haack, Dr.
University Hospital Tübingen
Outcome results
None listed