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…

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Setting the standard: Invitae helps adapt the ACMG/AMP variant classification framework for inherited cardiomyopathies

Invitae cardiology genetics expert John Garcia on the importance of consistent variant classification and a collaboration to make recommended modifications to the ACMG variant classification framework. Sequencing DNA isn’t enough. A genetic sequence must also be translated into medically actionable information, in a manner that is both accurate and consistent across testing laboratories. In 2015,…

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