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.
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
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
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.
See how you can use multiomics to better connect genotype to phenotype and obtain a full cellular readout not found through single omics approaches.
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.
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).
*Numbers represent number of associated genes on the TruSight One Expanded Panels.
Read the benefits of cardiovascular disease genomics on the diagnosis, management, and treatment of patients. Get updated guidelines from leading professional medical societies.
See the compelling case for genetic sequencing to improve our understanding of cardiovascular related diseases.
Learn how genetic testing can help your diagnosis, management, and treatment options.
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.
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.
In this podcast, Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.
Genomics-powered precision medicine can help identify disease-associated variants, pinpoint the underlying genetic causes of diseases, and optimize management and treatments.
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.