Genetic testing in medicine is quickly becoming a hot topic in the healthcare industry. With new advancements happening on a near-daily basis, it’s easy to get swept up and lost in the ocean of information out there. So, what exactly is the role that genetic testing for cardiovascular care plays? Well, the answer is resoundingly emphatic. It can play a significant role in determining not only risk factors but also prevention tactics and treatment options.

Genetics in Cardiovascular & Public Health

Conclusions derived from the well-known ​Framington Heart Study​ have taught us more about the importance of hereditary factors in cardiovascular diseases. Discoveries have concluded that genetics play a significant role in 9 out of 10 leading causes of death. Included in this is the understanding that genetic testing is quickly becoming the state-of-the-art norm​ in cardiac care following the advancements of the availability and ease of cardiovascular genetic tests. Incorporating genetic information into care plans when necessary is vital to addressing some patient issues at the root of the problem. And, with this incorporation growing, the benefits experienced by the health of the public will grow, as well. The better educated the patient and their families, the more the public in general benefits.

In addition to the benefits of patient and public education on the topic, one more very important benefit is observed: The positive impact genetic testing and information has on healthcare costs. Increasing the efficacy and efficiency of any medical procedure is at the core of effective patient health management. Better targeting for root causes of cardiovascular disease will minimize not only the patient’s stress level but also yours.
By adding genomic information to electronic health records, we can better identify current and future clinical decision support tools to aid in practitioner and patient health decisions.

Genetic Testing in Cardiovascular Care

Until fairly recently, genomic studies have been confined to rare diseases. But, it is increasingly evident that the value they provide in our overall health outlook is larger than previously understood. The ​future of genomics​ lies in its application for common cardiovascular and other health issues. Encouraging patients to participate in genetic research either with clinical or commercial testing is vital to advancing genomics in public health.

Genetic testing can improve your patient’s understanding of several things:

● Knowing what their risk factors are

● Knowing what their risk factors are

● Ways on how to focus on prevention

● Make diagnoses more efficient

● Improved treatment options and outcomes

● More detailed and comprehensive prognoses

Examples of Inherited Genetic Risk Factors

There are two types of inherited genetic disorders: ​Monogenic and Polygenic​. Many of the monogenic types of heart disease include uncommon disorders, such as​ hypertrophic cardiomyopathy​ (caused by MYH7), ​long QT syndrome (caused by ​KCNQ1, KCNH2​ , and ​SCN5A​ ), and ​familial hypercholesterolemia​ (caused by APOB, LDLR, LDLRAP1, or PCSK9). However, we are discovering that many of the most common heart diseases coincide with polygenic risk factors, meaning it may be easier to diagnose and treat these if we understand better how each gene influences different aspects of the disease. So far, researchers have identified 67 different variants in DNA sequences that can contribute to cardiovascular disease. A patient may have zero, one or two copies of each variant, and the more they have of each increases their likelihood of various cardiovascular problems.

A ​recent study​ found that African-Americans have a higher risk of hypertension due to a gene identified as ARMC5. Researchers identified 17 variants of ARMC5 which suggests that those of African descent have a higher risk of developing high blood pressure at a younger age than Caucasians. Earlier work on the variants of the ARMC5 gene revealed primary aldosteronism, a hormonal disorder that leads to high blood pressure, is also more common in those of African descent. However, one common variant called rs116201073, was identified as being “protective” and can help lower blood pressure.

Another study​ found that variants found in the GUCY1A3 and NOS3 genes have been associated with both high blood pressure and coronary artery disease. While Factor V Leiden, Prothrombin gene mutation G20210A, and Deficiency of protein C, protein S, and antithrombin all can ​predispose patients​ to deep vein thrombosis and pulmonary embolism. With each new discovery, we find a clearer picture of how we can use genetic testing for cardiovascular care to our advantage.

Current Pitfalls in the New Age of Genomics

While the field shows tremendous promise, it is important to note that this emerging field is still in its infancy and does come with a few caveats. The potential for having incomplete or incorrect information should not be ignored. Using genetic testing in cardiovascular care should be used in combination with your patient’s unique treatment plan, not as a replacement.

The promise for better public and private healthcare decisions is astounding. As healthcare professionals, educating ourselves and our patients on emerging developments will produce significantly better results by using a multifaceted approach to tackle issues head-on.