Next-Generation Sequencing Gene Panel Tests for the Management of Inherited Cardiovascular Diseases

Managing risk factors for patients with heart disease demands comprehensive care. The partnership between patient and provider must exist in order to address both the genetic and lifestyle risk factors that contribute to heart disease. In line with the precepts laid down by the Framingham Heart Study, (1) the NIH recommends combating the onset of cardiovascular disease by making prevention a priority. Patients are empowered to take charge of their health through modifying lifestyle choices, but physicians can further the impact of these choices by providing customized care. Offering patients the benefit of genetic testing can be a transformative component of addressing cardiovascular concerns.

Care through the lens of gene expression

Our understanding of heart disease has evolved. In 2017 whole genome sequencing (2) was completed for all participants in the Framingham Heart Study. This was done with the aim of entering into a new phase of population science. Gene Panel tests offer providers more insight into the management of patient disease states. By analyzing a selection of genes most commonly associated with heart disease, doctors can identify a patient’s risk of experiencing a severe cardiovascular event. Inherited heart conditions present tremendous risk for patients, but this risk can be tempered by early identification of relevant genetic factors. 

Testing improves treatment choices

Collaborative research into the genetic determinants of cardiovascular health has been an enduring priority for both the NIH and the American Heart Association. The partnership between these institutions and the Framingham Heart Study have resulted in the Cardiovascular Genome-Phenome Study. Practical applications of this research (3) have shown that most drugs used to treat heart disease are metabolized by three enzymes in the liver. Gene expression can affect the level of these enzymes present within the body, in turn impacting drug metabolism. Depending on drug and dosage choices some patients may metabolize their medications optimally while others do not. Genetic testing services offer insight that can improve treatment protocol choices. Understanding genetic expression helps demystify the process of selecting the right cardiovascular medication at the right dose for each and every patient.

Prevention made possible

Practice management is optimized by offering NGS Gene Panel services to those struggling with inherited cardiovascular disease. A conversation between a patient and provider about their genetic profile can be an important phase of the treatment process. By increasing patients’ knowledge of how genetics affect their health, preventative care is made possible. This exciting benefit of testing allows intervention to happen early, when symptoms are minimal or even non-existent. Screening for risk factors is also an important component of family practice. When one relative experiences a cardiovascular event, screening of other family members can identify those who would benefit from additional care. With insight into the genetic determinants of their health, patient clarity about the future of their care will improve. An empowered and engaged patient population increases the likelihood of intervention success and improved care outcomes. Offering a continuum of care that addresses all aspects of cardiovascular disease can strengthen both the understanding and experience of those seeking medical help. Please contact us for more information about how genetic testing can enhance the level of care possible in your clinical practice.

Sources

(1) https://framinghamheartstudy.org/

(2) https://www.nih.gov/sites/default/files/about-nih/impact/framingham-heart-study.pdf

(3) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698938/