SOPHiA DDM™ for Cardiology
Cardiac diseases are the #1 cause of death globally1,2. Genetic testing is frequently considered a key component of the clinical management process of inherited cardiac disorders, such as hypertrophic, dilated, and arrhythmogenic cardiomyopathies, aortopathies, and inherited arrhythmia syndromes3.
This approach is typically reserved for patients with a confirmed or suspected diagnosis of an inherited cardiac disease or individuals at high risk due to a previously identified pathogenic variant in their family.
Despite the benefits of short turnaround time and cost-effectiveness of NGS tests, the main challenge relies on accurately and efficiently analyzing the large number of variants detected. Besides pathogenic variants, multiple variants, including variants of uncertain significance (VUS), can be detected, thus complicating the clinical decision-making process.
2 Harvard Heart Letter. (2017) ‘The genetics of heart disease: an update’, Harvard Health Publishing, September.
3Ingles, J., Macciocca, I., Morales, A. & Thomson, K. Genetic testing in inherited heart diseases. Heart Lung Circ. 29, 505–511 (2020).
Most common diseases covered by SOPHiA DDM™ for Cardiology
- Catecholaminergic polymorphic ventricular tachycardia (CPVT)
- Long / Short QT syndromes
- Brugada syndrome (BRS)Arrhythmia
- Hypertrophic cardiomyopathy (HCM)
- Dilated cardiomyopathy (DCM)
- Restrictive cardiomyopathy (RCM)
- Left ventricular non-compaction (LVNC)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Streamlined workflow to accelerate variant analysis
In one experiment, the SOPHiA DDM™ for inherited cardiac diseases offers:
- Uniform coverage of the most relevant genes linked to cardiac disorders
- Accurate detection and annotation of single-nucleotide variants (SNVs), small insertion or deletion events (Indels), and copy number variations (CNVs)
- Simplified variant interpretation process with intuitive variant filter options (e.g., Virtual Panel and Cascading Filters), machine learning-based variant classification (complementing the ACMG ranking), and the possibility to gain and share knowledge on relevant variants with peers through global and local user networks.
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Delivering deep, impactful insights to BioPharma
Leverage our broad real-world genomic database and AI driven analytics to support your clinical development strategy and:
- gain insights into biomarker testing practices
- streamline biomarker driven clinical trial enrollment
- accelerate drug development process