Evaluating Exome and Genome Sequencing Compared to Conventional Methods for Diagnosing Rare Diseases and Familial Tumor Syndromes

What this Trial Is About

Researchers are analyzing retrospective data from patients with genetic diseases and their family members who underwent genetic testing between October 2016 and December 2020. The study aims to improve molecular genetic diagnostics by evaluating the use of exome and genome sequencing alongside conventional methods. It also includes assessing polygenic risk scores to enhance diagnostic algorithms and patient care for rare diseases and familial tumor syndromes. The study involves reviewing approximately 13,000 genetic analysis records, excluding combined analyses in the same patient, resulting in around 12,000 individuals. This evaluation helps identify diagnostic gaps and informs recommendations for appropriate genetic testing based on patient indications. The study also explores the potential impact of polygenic risk scores in routine diagnostics, particularly for familial breast cancer, which may influence preventive management. Participants data from genetic tests performed at the University Hospital Tuebingen are used for this observational analysis. Researchers will focus on diagnosis as the primary outcome measure, reviewing existing genetic information without requiring new interventions. The study seeks to create a strong data foundation to support future diagnostic and care strategies for patients with genetic conditions and their families.

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