Genomics

Hope for Familial High Cholesterol

If you’re living with hypercholesterolemia (FH), you aren’t alone. Our expert team at the AdventHealth Cardiovascular Institute is here to guide you and your family with the necessary information, support and personalized care you need to take charge of your health.

Trusted Heart Care From a Multidisciplinary Team I Experts

From innovative research that leads to breakthroughs, to a whole-person, multidisciplinary genomics care approach, our specialists work tirelessly to bring you leading-edge diagnostics for accurate results, leading to customized treatment options that help you live your best life.

  • Whole-Person Care

    Our whole-person care philosophy is embedded in every interaction with our patients. And our cardiologists are committed to helping you explore your genetics to identify the root causes of your conditions so that you can thrive in body, mind and spirit.

  • Genomic Expertise

    Our cardiologists and genetic specialists take a comprehensive approach to your health, evaluating your family history, conducting expert genetic testing and providing compassionate counseling to help you manage your risk factors.

  • Multidisciplinary Research

    Our goal of delivering the best genomics care drives us as we work closely with patients and families. This focus on innovation and research has led to new procedures, devices and treatments to help you heal and reclaim your life.

Understanding Familial Hypercholesterolemia

Familial hypercholesterolemia is a very common genetic condition that causes high cholesterol. It often goes undiagnosed, leading to early heart attacks and heart disease. Raising awareness of this condition will improve the long-term health and wellness of families who discover they have a genetic predisposition.

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Supporting You at Every Step

You'll never have to wonder what's next when you're in our care. Our dedicated team will be with you every step of the way, answering your questions, anticipating your needs and easing your mind. Contact us today to get started with treatment for yourself or a loved one.

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Identifying FH With the WholeMe Study

In partnership with personal genomics company Helix, we launched a large-scale DNA study that’s the first of its kind in Florida. This research not only gives participants a unique look at their genes and personal traits — from caffeine metabolism to circadian rhythm — it provides an important screening for familial hypercholesterolemia and the potential for early intervention of developing health conditions.

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Answering Your Genomics Questions

The more you know about your health, the more empowered you’ll be as you and your family journey toward wholeness. We’re here to answer these frequently asked questions about genomics, and your care team will be happy to answer any questions you have throughout your treatment.

  • What can genetic testing actually tell me, and what are its limits?

    Genetic testing can provide a wealth of information regarding your health by analyzing your DNA to identify changes specific to health conditions, disease risks or ancestry. These tests can provide robust insights into the diagnosis of rare diseases, your carrier status and your predictive risk of developing certain disorders or conditions. However, genetic testing cannot predict your future health status with 100% certainty, as there are certain limitations as to what these tests can identify, which include their inability to:

    • Determine whether a disorder will develop
    • Explain complex behavioral traits
    • Predict when symptoms will start
    • Provide absolute negative results (negative results don’t mean you have zero risk)

  • What does it mean if my result is positive, negative or a variant of uncertain significance?

    Genetic testing results can either be positive, negative or a variant of uncertain significance. A positive result means that the test found a change in a certain gene that may confirm a diagnosis, indicate that you’re a carrier of a particular genetic variation, identify you as being at an increased risk of developing a disease or suggest a need for further testing.

    A negative result means that the test didn’t find a change in a specific gene, indicating that you aren’t affected by a certain disorder, at a higher risk of developing it or a carrier. However, it’s important to know that this result doesn’t entirely rule out a genetic condition. It could be that your condition is caused by a gene that wasn’t included in your testing panel or is currently unknown due to a lack of current knowledge around that specific gene.

    A variant of uncertain significance (VUS) result means that a change was found, but it’s uncertain whether that gene change is harmful. Not all genetic mutations are harmful; everyone has unique adaptations in their DNA. A VUS result doesn’t mean that you’re at risk of developing a disease or condition, but it also doesn’t mean that the mutation is harmless.

  • Should my parents, siblings, children or other relatives be screened or tested, too?

    If you test positive for a genetic mutation, there’s a 50% that your first-degree biological relatives (mother, father, sibling, child) have the same mutation. Second-degree biological relatives (aunts, uncles, grandparents, grandchildren, nieces, nephews or half-siblings) have a 25% chance of having it. It’s important that you share your genetic test results with your loved ones so they have the information they need to decide whether they want to get tested.

  • How will a genetic result change my treatment, monitoring or family planning?

    Receiving a positive genetic mutation result changes your treatment and health monitoring for the better. Once your doctor and care team know what your specific mutation is, they’ll be able to provide more targeted therapies and treatments that are designed to eliminate cancerous or unhealthy cells. Similarly, your care team will likely increase the number and frequency of preventive screenings to keep a close eye on your health and monitor any changes, allowing adjustments to be made promptly.

    When it comes to family planning, there’s a lot to consider if there’s a genetic mutation in the mix. If you and your partner are both carriers for a recessive genetic condition, your child will have a 25% chance of developing it. However, knowing your results allows you to explore alternative family planning methods, such as in vitro fertilization (IVF) combined with preimplantation genetic testing. This process allows you and your partner to screen embryos before implantation to see if they are free of the specific mutation.

Find Expert Congenital Cardiology Care Near You

The expertise and support you need to keep your heart beating strong are right here at our AdventHealth Heart, Lung and Vascular Institute. We offer trusted genomics care and more, close to home. Explore our locations or let our team guide you to the one that’s right for you.