Genetic testing: An integral component of cardiovascular medicine

Three digital pocket guides can help identify patients for testing

More than 1 in 200 people have an inherited form of heart disease such as cardiomyopathy, arrhythmia, vascular disease, or hypercholesterolemia. Individuals with these conditions may have few or no symptoms but still face significant risks, including sudden cardiac arrest. Early identification of these at-risk individuals can be life-saving, as is identifying asymptomatic family members who are also at risk.

The following guides can aid in the identification of patients who could benefit from genetic testing:
(please click on the guide to download)

Familial hypercholesterolemia:
Genetic diagnosis of familial hypercholesterolemia (FH) indicates substantially higher risk of coronary artery disease than clinical diagnosis alone. If FH is identified early and treated aggressively, morbidity and mortality are reduced by 80%.
Arrhythmias and cardiomyopathies:
Arrhythmias and cardiomyopathies may have a genetic cause that affects prognosis and management. Testing can confirm a clinical diagnosis and differentiate from other causes; predict response to pharmacotherapies; inform avoidance of arrhythmia triggers; and aid in the decision to place an ICD or pacemaker.
Thoracic aortic disease is typically asymptomatic until a life-threatening event occurs. Clinical diagnosis is not always straightforward. Genetic diagnosis clarifies when an aorta warrants surgical repair.

Invitae is dedicated to making genetic testing accessible to everyone who needs it. We hope these pocket guides help you identify the patients in your practice who could benefit. Learn more about Invitae’s high-quality, affordable genetic testing here.