Genetic counseling for cardiovascular disease

Genetic counseling for inherited cardiovascular disease helps you and your family members understand your risk of developing heart-related conditions that run in the family.

At the Penn Medicine Center for Inherited Cardiovascular Disease, we use advanced genetic testing to screen your parents, siblings, and children to understand how inherited heart disease might affect each of you. Our physicians, nurses, and counselors are specially trained in familial heart disease. We have a team of dedicated professionals with advanced degrees in genetic counseling who spend time educating your family on ways of taking control of your health.

Flexible, customized testing for sensitive family circumstances

We make it as easy as possible to have genetic screening and treatment for heart disease. Some families are spread out across the country or world, so we design our counseling to fit your preferences and needs. That may involve helping your family members find a specialized treatment center near them, individual or group counseling appointments in person or by video, and letters to inform relatives of results.

In addition, every family handles genetic or family history information differently. Our counselors have deep experience with many types of family dynamics. We handle each case with care and privacy, according to each person’s beliefs and wishes. We can even coach you on how to talk to your family about the possibility of a genetic issue.

Genetic counseling and treatment for heart disease: what to expect

During an appointment for genetic counseling, we take the time to learn as much about you as we can and answer your questions, including when you should seek cardiac genetic testing and care services and how to assess your familial risk.

At an initial appointment, you can expect to:

• Discuss your detailed personal medical history, including any symptoms you may be having
• Discuss your family’s medical history, especially any heart conditions or sudden deaths in your immediate or extended family
• Create a family pedigree, which is a family tree or map of your close relatives
• Explain the uses, benefits, and costs of genetic testing
• Get a recommendation for the specific types of genetic testing that are right for you

If you decide to proceed with genetic testing, the test can be performed in a lab or at home. If you prefer a lab test, a technician will take a sample of blood or saliva. If you choose a home test, you’ll receive a kit in the mail with instructions on how to take a saliva sample and send the test back to the lab through the mail. Results are usually available in about a month.

Steps after genetic testing for inherited heart disease

Once your genetic test results are ready, a genetic counselor will review them with you, explaining what the results mean, and how they might impact your health. They’ll discuss any next steps, such as additional tests or appointments with cardiac specialists, and assess the likelihood of passing the condition on to future generations. The counselor will also guide you on how to inform your family about any relevant findings and address any questions or concerns you may have.

Additionally, our counselors can monitor multiple generations of your family over time, sometimes even decades. We get to know you and develop relationships, which helps us design individualized care plans and identify problems before they cause symptoms or complications.

Help for future generations

If you’re pregnant or planning to have children, we’ll help you understand the role of inherited heart disease. We can assess the chances that you’ll pass down a heart condition and order prenatal testing to make sure your baby’s heart is healthy.