Key Takeaways
- Genetic heart testing looks at specific proteins that place someone at a higher risk of heart failure.
- After submitting a cheek swab or blood sample, results are usually available within a couple weeks.
- Once a risk is identified, providers can help patients monitor for the conditions more closely and offer early intervention as needed.
Many factors that raise a person’s risk of heart disease can be controlled through changes to their lifestyle. There are also some factors that cannot be controlled – including genetics.
Together with the American Heart Association, Rochester Regional Health is highlighting our mission to embrace tomorrow, today through innovative medical technologies like cardiovascular genetic testing. This conversation is part of the Red Chair Series – a series of conversations with leaders in healthcare highlighting heart disease prevention with a focus on a variety of areas, including preventive care, rural health, women’s health, genetics, and maternal & infant mortality.
The American Heart Association is the world’s leading nonprofit organization focused on heart health and strives to help everyone take on health challenges through a series of key initiatives aimed at reducing health disparities. Amanda Coniglio, MD, is a heart failure cardiologist for Rochester Regional Health and explains how genetic testing works, who should consider undergoing testing, and the next steps that can be taken after receiving results.
How genetic testing helps heart patients
Genetic testing identifies the genes that are in our DNA and compares them to genes that scientists have linked to specific diseases.
For cardiovascular genetic testing, a patient will have a cheek swab or bloodwork collected, then sent out for analysis. Genetic testing looks for specific genes related to the cardiovascular system to see if there are any abnormalities that may cause or be correlated with disease.
Genetic testing takes approximately two weeks and results are ready for patients.
If testing suggests that a patient has inherited a genetic mutation, it does not mean they are going to get the disease. However, the information does allow their provider to keep a watchful eye out for any symptoms through regular screenings.
“If we find any evidence of disease early on, it’s best to treat it early before the symptoms become more significant,” Dr. Coniglio said.
Who should get genetic testing?
Anyone who has a personal or family history of heart diseases should get tested.
Patients with a history of heart failure in the family may be at risk for:
- Hypertrophic cardiomyopathy (HCM)
- Amyloidosis
- Arrhythmias
- sudden cardiac death
- high cholesterol
- aortic syndromes such as aneurysms or dissections.
“These are the main cardiovascular diseases we know that have a strong genetic predominance,” Dr. Coniglio said.
Test results are not made available to health insurance companies, so there is no impact to any patient’s policy. If a patient is enrolled in life or disability insurance, genetic testing information is available to these companies.
Can you do genetic testing for risk of heart attack?
Unlike other heart conditions, heart attacks cannot be linked to one or two specific genes. Heart attacks are not caused by a single factor; there are several risk factors to consider when looking at the source. Some may include:
- high cholesterol
- high blood pressure
- obesity
- poor diet
- smoking
- stress
Patients with a strong family history of heart disease or heart attack who want to know their personal risk are encouraged to talk with their cardiologist or primary care provider. Together, they can come up with a plan to control their risk factors to lower their risk of heart attack.
“We are still learning new information every day about genetics, and we are trying to test a more diverse population to get more information about patients from different populations and how their genetics play into disease,” Dr. Coniglio said.
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