Specific genetic variants increase your risk of developing conditions like high cholesterol, arrhythmia, and heart failure. The easiest way to know if you have these variants is through genetic testing for inherited heart disease. This genetic screening doesn’t provide a diagnosis but estimates your risk of developing heart conditions and suggests proactive measures to improve and maintain your heart health.
We will explore the different types of genetic testing for heart disease, who should consider taking them, and how accurate they are. We’ll also guide you through the next steps to consider once you receive your results.
What is genetic testing for heart disease?
Some heart problems, like familial hypercholesterolemia (FH), hypertrophic cardiomyopathy, and arrhythmia, can be inherited and are passed down through genes. Genetic testing for inherited cardiovascular diseases is a way to check if you have the associated genes that can increase your chances of developing particular heart conditions.
The test consists of the following steps:
You’ll provide a DNA sample (either blood, saliva, or cheek swab)
Your sample will be sent to a lab that will check for any variants related to heart disease
You’ll be informed about the potential impact on your heart health (such as an increased or decreased risk of developing heart problems)
Hereditary cardiovascular screening can identify the following conditions:
Condition | Outcomes | Genes screened |
Familial hypercholesterolemia (FH) | High cholesterol levels, increased heart attack risk | LDLR, APOB, PCSK9 |
Hypertrophic cardiomyopathy | Thickened heart muscle, heart failure risk | MYH7, MYBPC3 |
Long QT syndrome | Irregular heartbeats, sudden cardiac arrest | KCNQ1, KCNH2 |
Marfan syndrome | Aneurysm | FBN1 |
Having a genetic variant doesn’t automatically mean you’ll develop heart disease. It means your risk is higher, and knowing this can help you take preventive measures.
Bonus: Read about heart disease risk factors that affect women.
When to seek genetic testing for heart disease
Source: Cottonbro Studio
Most people get tested for genetic risks of heart disease because of:
Family history of heart disease
Unexplained symptoms
Proactive health management
In the following sections, we’ll explore these reasons further and explain when genetic testing might be the right choice.
1. Family history of heart disease
If you have close relatives who’ve had heart conditions, it’s a good idea to get screened for cardiovascular disease, especially if the person is a first-degree relative.
First-degree relatives include your parents, siblings, and children. They are the people who share about 50% of your genes. When a heart condition is genetic, there’s a higher chance that close family members could also be affected.
For example, with familial hypercholesterolemia, if a parent is diagnosed, their children and siblings have a 50% chance of inheriting the same condition and would often get tested for the same heart condition. Testing the family can help catch the condition early and facilitate appropriate management.
2. Unexplained symptoms
Sometimes, doctors recommend genetic testing when a person starts experiencing unexplained cardiovascular-related symptoms. If you’ve had fainting spells, irregular heartbeat, chest pain, or seizures with no clear cause, genetic testing might help identify if an inherited heart condition is behind it.
Conditions like Long QT syndrome and Brugada syndrome can cause irregular heart rhythm that leads to fainting or seizures. Since these disorders are genetic, testing can help determine whether they’re the root cause.
3. Proactive health management
Heart disease doesn’t always come with warning signs. Some genetic heart conditions, like coronary artery disease, may not show symptoms until later in life or until a serious event like a heart attack. That’s why some people get tested even if they have no symptoms.
By understanding your genetic risk early, you can change your diet, exercise more, or start pharmaceutical therapy if your doctor deems it necessary to protect your heart health before severe problems arise.
What are the types of genetic tests for heart disease?
If you’re thinking of taking a genetic test for heart disease, your options include:
Multi-gene panel testing
Whole genome sequencing
1. Multi-gene panel testing
This type of test looks at a group of genes all at once, usually the ones that are most commonly linked to inherited heart conditions like arrhythmia, cardiomyopathy, or connective tissue disorder.
This method is used because many conditions can have similar symptoms. For example, someone with Marfan syndrome and someone with Loeys-Dietz syndrome might show the same clinical picture, even though they’re different issues and are caused by different genetic variants.
That’s why doctors recommend testing for multiple genes simultaneously instead of diagnosing based on symptoms alone.
2. Whole genome sequencing (WGS)
Unlike panel testing that focuses on a specific set of genes, whole genome sequencing looks at almost your entire DNA. It scans through your genetic markers to catch common, rare, and new variants that can be missed in smaller panel tests.
The table below compares what WGS and multi-gene panel testing offer:
Feature | Multi-gene panel | Whole genome sequencing |
Scope | Tests for a specific set of genes | Analyzes almost your entire genome |
Coverage | Limited to known genes related to heart conditions | Broader coverage, which can detect rare variants |
Depth of insight | Focused insights based on select genes | More comprehensive view of genetic risks |
Flexibility | Only tailored to certain heart conditions | Can reveal other health-related details beyond heart conditions |
One study found that WGS detected all the variants that a gene panel picked up and a few extra ones that the panel completely missed. That’s because it dives into every part of your DNA, including regions not typically covered by panel tests.
WGS tests tend to be expensive because of how comprehensive they are. If you’re looking for a more affordable option in the U.S., Nucleus Health could be an excellent choice. This all-in-one DNA health test screens not just for cardiovascular health but also cognitive and mental health, focus and energy, rare cancers, and more.
How accurate is cardiovascular disease prediction through DNA tests?
Source: Pavel Danilyuk
Gene testing for heart disease isn’t a diagnosis. Having a genetic variant linked to a heart condition doesn’t mean you’ll develop the disease, but the risk might be higher than average. That awareness helps you take preventive steps.
Like any medical tool, genetic testing isn’t perfect. Here are a few limitations to keep in mind:
Rare variants might be missed: Some genetic variants haven’t been identified yet. If your variant hasn’t been studied enough or isn’t included in the testing panel, it might not show up, even if it can lead to a heart condition.
Uncertain results: Sometimes, your test might pick up a variant of unknown significance (VUS), which means researchers have found a change in your DNA but don’t yet know whether it causes the disease.
False positives or negatives: Though uncommon, lab errors or low-quality samples can lead to results that aren’t fully accurate. That’s why tests are ideally done through CLIA-certified labs, like the ones used by Nucleus.
Some of these limitations can be minimized with whole-genome sequencing, since it provides a more comprehensive view of your DNA.
While genetic testing is not foolproof, it’s still one of the most powerful tools we have for early insight. There have been cases where someone’s regular heart scans looked totally fine, but a genetic test revealed a high-risk variant, long before symptoms ever showed up.
How much does it cost to undergo genetic testing for cardiovascular disease?
The cost of genetic screening for heart disease typically ranges from around $250 to $2,000, depending on:
The provider you choose
How extensive the testing panel is
Whether or not your insurance covers part of the test
For some providers, you’ll need to go through a doctor to order the test. In those cases, the final price may not even be transparent until after the test (though you can usually get an estimate beforehand). Alternatively, companies like Nucleus have more accessible screening with at-home test kits and a flat fee of [PRICE.KIT_SOLO.ONE] for genetic testing.
Also, if you’re getting tested because a relative has a known heart-related gene variant, you may be eligible for cascade testing, which could reduce or even eliminate your cost. Some providers offer free or discounted testing for family members within a specific time window.
What to do after undergoing a genetic test for cardiovascular disease
Source: Cottonbro Studio
Undergoing a genetic test for heart disease can feel unnerving. Still, it’s important to remember that these results are not a diagnosis but a means to guide risk-informed next steps.
If your test shows that you have a gene variant linked to a heart condition, here’s what you can do next:
Make lifestyle changes: You can adjust your diet, get more active, learn how to manage stress effectively, and get regular checkups. These small shifts can make a big difference in lowering your risk of cardiovascular issues.
Talk to a genetic counselor: They can help you understand your results, options, and how to move forward medically or emotionally.
Get your family involved: If your results suggest a hereditary condition, your relatives, especially first-degree ones, should get tested to know whether they also have the gene variant.
Taking action after testing is where the real power lies, and knowing your risk early gives you the chance to make proactive decisions regarding your heart health.
How to choose the right genetic test for heart disease
With so many companies now offering genetic testing for heart disease, figuring out which one to opt for can be challenging. It’s worth considering the insights you actually want from your results.
Many heart conditions can have similar symptoms, so to really determine your risk, you need a comprehensive test to get a full picture. If you choose a limited gene panel, there’s always the risk that it might miss something important.
That’s why, when you’re choosing a provider, you want one that:
Offers deep, wide-ranging insights by testing more genes
Makes the testing process smooth and simple
Has clear and upfront pricing
Keeps your data protected
Nucleus is a HIPAA-compliant genetic testing provider that excels in these aspects. It examines nearly 100% of your DNA for common and rare variants linked to cardiovascular conditions. So if you’re looking for a detailed option with affordable pricing and quality reports, it could be an ideal option to consider.
Order your Nucleus Health kit to get started.
Nucleus Health: Your disease risks mapped with whole genome sequencing
Most companies that offer genetic testing for heart disease use multi-gene panels. These tests look at a small set of genes known to be linked to heart conditions and can sometimes miss important variants.
Nucleus Health takes a more advanced approach. The company uses whole genome sequencing, which scans all of your DNA to identify genetic variants that may affect your heart health.
With Nucleus, you get screened for 130+ genetic biomarkers and conditions linked to cardiovascular health, including options like:
Familial hypercholesterolemia
Coronary artery disease
Lipid metabolism disorders
Severe hypercholesterolemia
Marfan syndrome
Hypertension risk
Arrhythmia (like Long QT syndrome, Brugada syndrome)
Cardiomyopathy (e.g., hypertrophic cardiomyopathy)
You also get insights into 40+ diet-related markers that may affect your heart, giving you a clearer view of how your lifestyle choices interact with your genes. Additionally, you’ll get screened for hundreds of other conditions and traits related to your neurological health, IQ, metabolism, and more.
Nucleus doesn’t only give you raw data. It provides AI recommendations based on your reports, so you know exactly what actions you can take. Also, if you want additional medical support, the company connects you with board-certified genetic counselors who’ll walk you through your reports and next steps.
Getting started with Nucleus Health
Nucleus testing is physician-ordered and clinical-grade, so you don’t need to go through your doctor to order. If you’d like to get started, follow these steps:
Provide the required details
Order your test kit
The test includes everything you need: the at-home cheek swab test kit, instructions, and a full breakdown of your results.
Once you collect and ship your sample, Nucleus will analyze it and deliver your personalized heart risk report in about six to eight weeks.
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Featured image source: Antoni Shkraba
