Database and software solutions to help clinical diagnostic labs .
Individuals carrying a pathogenic variant for a dominantly inherited arrhythmia have a 50% likelihood of passing the variant on to their children, placing them at higher risk of developing the potentially life-threatening condition (1).
Today, there are a several commercially available sequencing options for genetic testing of inherited arrhythmias, ranging from targeted panels (5-20 genes) to broad pan-arrhythmia panels (170+ genes) and whole exome sequencing (20,000+ genes). While more comprehensive tests increase the sensitivity of variant detection, they also increase the detection of variants of unknown clinical significance, enhancing the complexity of interpretation.
There are several types of inherited arrhythmic disorders. The most common types include:
The greatest challenge with any genetic testing is interpretation of results. However, as NGS panels for inherited arrhythmic disorders continue to increase in size, data analysis and interpretation becomes more complex and time-consuming.
Genetic heterogeneity – most inherited arrhythmia disorders are characterized by mutations in multiple genes.
Variants of unknown significance (VUS) – multigene panel testing increases the number of detected VUS, often in genes with limited evidence.
Specialized knowledge – interpreting genetic results requires a high degree of specialized knowledge.
Future reclassifications – many VUS will likely require future reclassification as additional evidence about the variant becomes available.
The content core of QIAGEN’s clinical NGS variant interpretation and reporting solutions, the QIAGEN Knowledge Base (QKB) is unrivalled in breadth, depth, and accuracy, ensuring labs have access to the evidence, peer-reviewed literature, guidelines, drug labels, and clinical trial registries needed to interpret every variant with precision and confidence.
Built over 20 years and encompasses over 40 public and proprietary databases
Maintained by hundreds of certified MD- and PhD-level expert curators who enter more than 5,000 new findings each day
Contains the latest evidence from peer-reviewed papers, clinical and functional studies, on- and off-label drugs, and professional guidelines, such as NCCN, AMP/ASCO/CAP and the World Health Organization (WHO)
Updates list of recruiting clinical trials each week
Shorten the diagnostic odyssey with the de-facto standard resource for identifying inherited disease-causing mutations. HGMD Professional leverages human expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy and relevance.
Dynamically classify variants, eliminate manual curation, and accelerate test turnaround time with clinical decision support software that enables rapid and confident variant interpretation and reporting of large NGS panels for inherited disorders.