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The Pathologist / Issues / 2022 / Apr / Matters of the Heart
Genetics and epigenetics Biochemistry and molecular biology Molecular Pathology

Matters of the Heart

Could genetic testing put an end to heart disease once and for all?

By Liv Gaskill 04/08/2022 Quick Read (pre 2022) 1 min read

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Credit: Image from Shutterstock.com

Ever wondered if you might be at risk of heart disease? A new study, the first of its kind in North America, aims to use genetic testing to identify people most at risk of developing the number one killer in the world (1). “Our teams at three Dignity Health hospitals will collect DNA samples from 2,000 men and women with no known history of heart disease,” says Robert Roberts, Medical Director of Cardiovascular Genomics for Dignity Health in Arizona. “The DNA samples will be analyzed for genetic markers known to cause heart disease and, once genotyping is complete, our team will evaluate each participant’s genetic markers to determine whether they have a low, medium, or high chance of developing heart disease.”

With novel studies come novel challenges. “I expect we will need to provide a strong educational program regarding genetic testing within the community,” says Roberts. “We will also address common misconceptions about genetics – for example, the myth that, if you have genetic markers for heart disease, there is nothing you can do about it. We have already proven that, if you are at high genetic risk for heart disease, lifestyle changes and medications can decrease your risk by about 50 percent.”

Though the researchers hope to reduce such misconceptions, participants will still get to choose whether they would like to know their results. “Those who do wish to learn their results will have the opportunity to meet with cardiology experts for genetic counseling and preventive therapies, if necessary,” says Roberts. He anticipates that, if genetic testing effectively identifies at-risk patients before they experience a cardiac event, it could be adopted globally on a routine basis. “Genetic testing is inexpensive and blood can be collected anywhere in the world. The DNA is stable and can be shipped over days or weeks to the appropriate lab for analysis. If genetic testing is incorporated into routine clinical practice, it will transform the prevention of heart disease.”

Not only will it save lives, but Roberts is optimistic that current research will soon put an end to the deadly disease once and for all. “This should be the last century of heart disease,” he says. “I am hopeful that, through the results of this study, we will save countless lives in future.”

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References

  1. Dignity Health (2022). Available at: https://dignityhlth.org/3wiAMUy

About the Author(s)

Liv Gaskill

During my undergraduate degree in psychology and Master’s in neuroimaging for clinical and cognitive neuroscience, I realized the tasks my classmates found tedious – writing essays, editing, proofreading – were the ones that gave me the greatest satisfaction. I quickly gathered that rambling on about science in the bar wasn’t exactly riveting for my non-scientist friends, so my thoughts turned to a career in science writing. At Texere, I get to craft science into stories, interact with international experts, and engage with readers who love science just as much as I do.

More Articles by Liv Gaskill

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