Recognize rare mutations of cardiomyopathies with database and software solutions for analyzing and interpreting genetic abnormalities of inherited cardiovascular diseases
Inherited cardiomyopathies (ICs) are a major cause of heart disease and progressive heart failure, affecting approximately 1 in 500 individuals (1). Consequently, genetic testing is used to confirm a diagnosis, guide management, and provide disease prognosis.
NGS-based assays for the rapid and cost-effective molecular diagnosis of diverse ICs are becoming a routine part of clinical care. While larger, multigene panels offer higher diagnostic yields, there is a concurrent increase in the rate of inconclusive results, illuminating the importance of high-quality and confident variant interpretation.
Inherited cardiomyopathies are heterogeneous disorders of the myocardium formally classified into six distinct forms:
Approximately 60 genes have been reported to be disease-related in inherited cardiomyopathy (2). While large multigene NGS panels provide opportunities to investigate thousands of genetic aberrations simultaneously among diverse cardiomyopathy phenotypes, identifying clinically actionable variants remains a challenge.
Genetic heterogeneity – cardiomyopathy phenotypes are caused by numerous genetic mutations, exhibiting both locus heterogeneity and allelic heterogeneity.
Rare variants – as a result of genetic heterogeneity, many pathogenic mutations are rare and frequently private, ie, specific, to an individual family, with few hot spots or common mutations.
Quality content – interpreting cardiomyopathy panels requires gene- and disease-specific evidence to help distinguish between gain- and loss-of-function variants.
Future reclassifications – ongoing reclassification of variants of unknown significance is needed as new data from probands and genome banks is published.
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.