Evaluating genetic testing methods for rare diseases and familial tumor syndromes

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study analyzes retrospective data from patients with genetic diseases and their family members who underwent genetic testing between October 2016 and December 2020. The focus is on utilizing next-generation sequencing (NGS) and polygenic risk scores (PRSs) to enhance the understanding of genetic predispositions. By examining approximately 12,000 individual records, the study aims to develop diagnostic algorithms and improve future genetic testing strategies. The findings will contribute to a more robust framework for diagnosing rare diseases and familial tumor syndromes.

Why it matters

Who can join: the full rules

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

Where it's running

• University Hospital Tübingen
  Tübingen, Germany Recruiting

Study contacts

• Principal investigator: Tobias Haack, Dr. — University Hospital Tuebingen
• Study coordinator: Tobias Haack, Dr.
• Email: tobias.haack@med.uni-tuebingen.de
• Phone: +49 7071 298

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.