We spoke with Dr. Dustin Thomas, Parkview Heart Institute, to help us better understand how genetic testing encourages productive conversations around heart disease and family risk factors.

What is genomics, and how is it relevant in cardiology?

Genomics, as it pertains to the medical field, is the study of the human genome. The genome is a patient’s complete unique sequence of DNA stored in almost every cell in their body.

Current research tells us that genetics could play a significant role in 30-60% of cardiovascular disease, but lifestyle factors remain the most important contributors to the development of very common diseases like coronary artery disease. There are, however, many cardiovascular conditions, such as certain cardiomyopathies, aortic diseases and arrhythmias, in which genomics is very important.

What can genetic testing do for me?

The role of routine genetic testing in cardiovascular disease screening is uncertain and still being studied. There have been relatively few clinical trials in cardiology that have examined this newer technology. For patients who have multiple first and second-degree family members with heart muscle problems, aneurysms, heart rhythm issues or who have experienced very high cholesterol from a young age, genetic testing could be helpful in informing their risk of developing these issues in the future.

How can genetic testing benefit my family or the community?

Individuals with a known inherited cardiac condition can undergo genetic testing to identify their specific gene mutation. This information can help focus screening for their family members.

For example, if a patient is diagnosed with hypertrophic cardiomyopathy and carries the MYBPC3 gene mutation, their siblings and children could be tested for that specific gene to determine their risk for developing the disease in the future.
 

Is genetic testing safe?

Genomic testing typically involves a saliva swab or blood test, so the harm associated with collecting the sample is very minimal. However, learning about a gene mutation can be emotionally distressing, particularly if the gene mutation is associated with a potentially life-limiting or quality-of-life-reducing disease. This emotional response is especially true for individuals who have not exhibited clinical signs of the disease at the time of testing.

Additionally, some life insurance carriers may charge higher rates or decline to insure patients who carry certain well-known gene mutations. Due to these factors, patients and providers must always carefully weigh the risks and benefits of pursuing this option.

For more information on how genetic testing may impact your life insurance, disability insurance or long-term care insurance, visit the DNA Insights frequently asked questions.
 

How do I know if I’m a candidate for heart-related genetics testing?

Ultimately, your primary care physician is best suited to help you make a decision about undergoing genetic testing. I also recommend talking it over with your immediate family and reaching out to your extended relatives to inquire about the presence of inheritable cardiac conditions.

Regardless of whether you decide to undergo genomic testing, healthy lifestyle interventions such as regular exercise, avoiding processed foods, particularly those containing high amounts of sugar and quitting smoking are safe and effective for everyone.

If you’re interested in learning more or signing up for DNA Insights, visit parkview.com/DNAInsights.  

 

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