Cardiovascular Disease Research
Genomic research and cardiovascular health
Tools and methods to advance cardiovascular research
Research tools for cardiovascular research
Next-generation sequencing (NGS) is a powerful tool to reveal how genes affect cardiovascular disease. These NGS-driven advances are enabled by a growing option of tools and applications available to researchers. Even the discovery of a single gene can reveal vast insights into the complex nature of cardiovascular genetics.
Estimating cardiovascular disease risk with polygenic risk scores
Polygenic risk scores (PRS) are an estimate of an individual's genetic risk for a specific trait or condition, obtained by aggregating and quantifying the effect of many common variants. Using PRS, in addition to typical screening methods, can help to identify individuals at risk for coronary artery disease that could have otherwise been missed.1
- PRS overview: Introduction to PRS
- Global Diversity Array with PRS: GDA with Enhanced PRS Content
- Analyzing PRS: Illumina PRS software
Going beyond DNA sequence changes
Epigenetics is the study of chemical modifications that occur to the genome that regulate gene expression at the DNA, RNA, and histone level through methylation, acetylation, ubiquitination, and phosphorylation. Epigenetic based therapies, or epi-drugs, continue to be explored and developed for potential treatment options. Some existing drugs used to treat heart failure have known epigenetic effects, including statins, metformin, apresoline, and SGLT2 inhibitors.2
- NGS Solutions: ChIP-Seq, ATAC-Seq
- Array Solutions: Methylation Arrays
NGS and protein analysis
Proteomics is the study of a protein’s structure, function, and regulation. NGS-powered assays in proteomics can be used to better understand functional relationships between genes and proteins in bulk cell populations or even at the level of single cells. In some cases, this approach enables researchers to study these relationships within the context of preserved tissues.
- Bulk protein and sequencing: BEN-Seq app note
- Surface protein detection and sequencing data at the single-cell level: CITE-Seq
- Transcriptional activity within intact tissues: Spatial transcriptomics
Multiomics multiplies your discovery power
See how you can use multiomics to better connect genotype to phenotype and obtain a full cellular readout not found through single omics approaches.
Enhancing research discoveries with whole-genome sequencing
Whole-genome sequencing (WGS) is a powerful and comprehensive tool to analyze entire genomes, allowing researchers to identify inherited disorders such as those for heart disease. This approach has identified causative gene variants in which prior genetic testing was inconclusive or negative.3,4 WGS can also pave the way for future applications to detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants.
Featured Product
TruSight One Expanded Sequencing Panels
The TruSight One Expanded Panels provide clinical research labs with an affordable solution for managing a diverse assay portfolio. Investigators can choose to analyze all genes on a panel or focus on a specific subset. With a single assay, labs can expand existing menus, streamline workflows, or create an entire portfolio of sequencing options. This assay offers 181 cardiac genes related to 18 inherited cardiac conditions (ICCs).
Cardiac conditions covered by TruSight One Expanded Sequencing Panels*
Arrhythmias
- Familial atrial fibrillation (21)
- Long QT syndromes (15)
- Brugada syndrome (13)
- CPVT: catecholaminergic polymorphic ventricular tachycardia (6)
- Short QT syndrome (4)
Cardiomyopathies
- Dilated cardiomyopathy (59 genes covered)
- Hypertrophic cardiomyopathy (50)
- ARVC: arrhythmogenic right ventricular cardiomyopathy (11)
- Noonan syndrome (11)
- Non-compaction cardiomyopathy (10)
- Restrictive cardiomyopathy (9)
Aortopathies
- Familial aortic aneurysm (16)
- Heritable thoracic aortic dissection (4)
- Loeys-Dietz syndrome (4)
- Aortic valve disease (3)
- Marfan syndrome (3)
Other cardiac conditions
- Structural heart disease (15)
- Familial hypercholesterolemia (10)
*Numbers represent number of associated genes on the TruSight One Expanded Panels.
Learn more
Cardiovascular genetics for providers
Read the benefits of cardiovascular disease genomics on the diagnosis, management, and treatment of patients. Get updated guidelines from leading professional medical societies.
Cardiovascular genomics overview
See the compelling case for genetic sequencing to improve our understanding of cardiovascular related diseases.
Is heart disease genetic?
Learn how genetic testing can help your diagnosis, management, and treatment options.
THOUGHT LEADERSHIP
Featured experts on cardiovascular genomics
Improving cardiovascular therapies through pharmacogenomics
Pharmacogenomics can reveal how a patient responds to drugs and serve as an important tool to identify efficacy. In this interview, Dr. Marie-Pierre Dubé, PhD discusses how she identified genotypes of responders and nonresponders using Illumina technologies.
Can genetic testing improve cardiovascular outcomes?
In this webinar, Dr. Joshua Knowles discusses the importance of genetic cascade testing in familial hypercholesteremia, as well as implementing polygenic risk scores in clinical care.
Using genetics to predict heart attack risk
In this podcast, Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.
Related content
Precision genomics
Genomics-powered precision medicine can help identify disease-associated variants, pinpoint the underlying genetic causes of diseases, and optimize management and treatments.
Polygenic risk scores
These scores represent the number of genetic variants an individual has that increase their risk of developing a particular disease. Explore key considerations and future uses.
References
- Mujwara D, Henno G, Vernon ST, et al. Integrating a Polygenic Risk Score for Coronary Artery Disease as a Risk-Enhancing Factor in the Pooled Cohort Equation: A Cost-Effectiveness Analysis Study. J Am Heart Assoc. 2022;11(12):e025236. doi:10.1161/JAHA.121.025236
- Gorica E, Mohammed SA, Ambrosini S, Calderone V, Costantino S, Paneni F. Epi-Drugs in Heart Failure. Front Cardiovasc Med. 2022;9:923014. Published 2022 Jul 13. doi:10.3389/fcvm.2022.923014
- Kalayinia S, Goodarzynejad H, Maleki M, Mahdieh N. Next generation sequencing applications for cardiovascular disease. Ann Med. 2018;50(2):91-109. doi:10.1080/07853890.2017.1392595
- Bagnall RD, Ingles J, Dinger ME, et al. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2018;72(4):419-429. doi:10.1016/j.jacc.2018.04.078