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.
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.
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