Using Innovations in Genetics and Family History to Pinpoint Your Cardiac Risk

In Pennsylvania and nationwide, heart disease is the leading cause of death. While certain lifestyle factors, like smoking and high cholesterol, can increase a person’s risk for heart disease, physicians are developing a more complex picture of how each person’s unique biology impacts that risk. In contemporary cardiac care, there’s a strong understanding of how genetics and family history play a big part in shaping heart health — and increasingly, how they can be used to help prevent a negative health event before it occurs.

"Early detection can change the trajectory," says Dr. John Clark, cardiologist at Main Line Health in Philadelphia. "People may ask, 'Why even check? If it’s going to happen, it’s going to happen.' But the reality is, you have the chance to modify your future."

Recognizing this, physicians at Main Line Health have adopted a proactive approach, utilizing family history and genetic testing through their specialized Cardiovascular Genetics and Risk Assessment Program to help patients take control of their health before a crisis strikes. The program stands out for its comprehensive evaluations, which include detailed family history analyses, customized risk management strategies, and tailored genetic testing.

“During consultations, we’re not just identifying risk factors,” explains Cristina Nixon, MS, CGC, a certified genetic counselor at Main Line Health. “We’re providing patients with actionable steps to mitigate those risks and extend that knowledge across generations.”

This focus on prevention represents a promising movement in cardiology. By understanding which specific genes elevate risk, and counseling families on screening and treatment options designed for their unique risk, the team at Main Line Health is pioneering a personalized, preventative approach to cardiovascular care.

Here’s how that knowledge is being applied to help anyone at risk of a cardiovascular condition — and how you can take advantage of it.

Why your family history matters

Determining your inherited risk all starts with understanding your family history. When unpacking your family’s cardiac health, it’s important to understand that all heart health issues don’t fall under the same umbrella. Even though up until a generation or two ago, most cardiac episodes and sudden deaths were simply referred to in families as “heart attacks,” contemporary care requires far more nuance and detail. Conditions like high cholesterol and heart attacks often run in families, which means there are multiple different inherited conditions that could be behind one cardiac incident.

“That means patients and physicians should be diving deeper into what actually happened with those family members,” Nixon says. Counselors like Nixon attempt to determine the exact nature of a heart attack or stroke, so that patients know how to address the inherited tendencies that are driving their particular risk.

Nixon recommends patients talk to relatives to gather as many details as possible. They can start by having conversations with those closest to them and asking whether they are aware of anyone in the family who has suffered from heart disease, high cholesterol or other cardiovascular issues.

After identifying a health issue, patients should try to understand how the symptoms developed and were treated. For example, if there is a history of multiple family members with heart attacks, follow-up questions to understand the mechanics behind those heart attacks are crucial. “You might ask, ‘What symptoms [did] they have leading up to that? Did they have a pacemaker or defibrillator? Did they have high cholesterol?” Nixon says.

Once you have the information, have a thorough conversation with your cardiologist. Include specific diagnoses, ages of onset, and relevant lifestyle factors of affected relatives. For example, note any recurring patterns, such as heart attacks or strokes occurring before age 55, as these can indicate inherited risks like familial hypercholesterolemia or genetic predispositions to heart disease.

Armed with this information, your doctor can recommend appropriate screenings to monitor your cardiovascular health. These may include cholesterol testing, blood pressure monitoring or advanced diagnostic tools such as cardiovascular imaging.

Genetic testing could also be advised if there are strong indicators of inherited conditions, helping to tailor prevention strategies or early treatments. Having a close family member who has suffered from high cholesterol, heart arrhythmias, heart failure, stroke or SIDS may increase a patient’s risk of suffering from one of the same conditions and may be reason enough to pursue cardiac genetic testing.

The Importance of genetic testing and counseling

While knowing your family’s history is one factor in determining your heart health risks, it isn’t the only information you can use to understand your cardiac health. With genetic testing, providers at Main Line Health are helping patients take the next step in breaking down their risk–and identifying the exact conditions that they need to target early. At Main Line Health, Nixon and her colleagues test for different types of genes responsible for different cardiovascular conditions, each of which is linked to a treatment and prevention approach. These include lipid disorders like familial hypercholesterolemia; aortopathy, which are conditions that weaken the aorta, the largest artery in the body; cardiomyopathies, which are diseases that make it difficult for the heart to pump blood; and channelopathies, also known as arrhythmias or heart rhythm disorders.

Doctors use this information to determine detailed, targeted prevention plans. They may recommend screenings, including anything from cholesterol testing to heart rhythm monitoring. Lifestyle factors such as diet, exercise, stress management, and smoking may also play a role in prevention.

“We know that interventions with lifestyle changes or certain medications can actually decrease your risk of progression to symptoms or worsening of that condition,” Clark says.

Often, the earlier you get tested, the better. In fact, discovering a cardiac gene mutation in young adulthood or even childhood can set patients up for success in the long term and potentially save their lives. If high cholesterol can be detected from a very young age, diet changes, exercise regimens, and medications may be recommended to begin lowering cholesterol as early as possible.

“People often don’t think about checking their younger children for cholesterol levels, but let’s say we find a gene mutation in one of their parents for familial hypercholesterolemia,” Nixon says, referring to a condition in which one has very high levels of LDL or “bad” cholesterol in the blood. “In that case, it’s recommended that they start having their cholesterol checked as early as eight years old … When you lower the body’s exposure to those high LDL levels starting from a younger age, it’s going to lower the risk of having a heart attack or stroke later on in life.”

Even simply ruling out a genetic condition can be helpful for patients. Seeking genetic testing and genetic counseling can help patients determine not just what they are at risk for, but also what they are not, saving them from a lifetime of unnecessary monitoring and medical appointments they might otherwise have attended.

“It can be highly informative to know who needs to be followed and screened over time, who carries the gene mutation, and who therefore carries that increased risk — but also, who doesn’t carry the mutation, and who doesn’t need that ongoing surveillance,” Clark says.

Taking action — for everyone

Identifying inherited risks not only benefits the patient–genetic testing is often recommended for siblings or children of the patient as well, so that they might also assess their own genetic risk for heart disease.

“[The] importance of testing is multifold. It’s understanding that individual’s risk, and then understanding familial risk. So if we find a mutation in the person sitting in front of us, we’re going to make recommendations for their first-degree family members to get tested,” Clark says, noting that with most cardiac genes, the parents, siblings and children of a person who has a gene mutation have a 50% chance of also having the same mutation.

Beyond family members, the growing amount of information on genetics also helps researchers better understand cardiac genetics and develop new treatments for everyone. According to Clark, patients at Main Line Health also have the option to help directly by participating in studies or joining a research registry.

So if you haven’t already spoken to your doctor, it’s time to take action. Start by having a conversation with your family — ask about specific diagnoses, ages when conditions started, and any patterns like early heart attacks or strokes. Once you’ve gathered this information, make an appointment with your primary care doctor or cardiologist to share what you’ve learned and see if genetic counseling or additional screenings might be right for you.

Remember, your family history is just a starting point — it doesn’t define your future. By taking these steps, you’re advocating for your health and empowering yourself to make proactive choices for a stronger, healthier tomorrow.

Next steps:

Make an appointment with John Clark, DO
Make an appointment with Cristina Nixon, MS, CGC
Learn more about heart and vascular care
Learn more about cardiovascular genetics and risk assessment