Genomics in Cardiology

Families with inherited cardiac conditions

Patients with a suspected ICC should be referred to a specialist ICC service to ensure they benefit from the latest developments in genomic medicine.

Most ICCs are autosomal dominant, meaning that immediate family members have a 50% chance of inheriting the same condition.

Genetic testing can be used to determine the risk to the patient’s family members; this is known as cascade testing.

Treatment and management of cardiac conditions

For some inherited cardiac conditions, treatment can be refined when we understand the precise molecular basis of an individual’s condition. For example, those with inherited arrhythmia may receive treatment tailored to the genetic cause.

Increasingly, other cardiological treatment can also be chosen in accordance with an individual’s genetics. For example, genetic testing can determine whether an individual will be resistant to clopidogrel, or has an elevated risk of developing statin myopathy.

Genetic information can be used to intervene early. For example, adopting a favourable lifestyle has been shown to reduce coronary disease risk by around 50% even in the presence of a high genetic predisposition.

New therapies

Understanding the genetic basis of disease can give us an insight into the molecular mechanisms and pathways involved, which can allow us to develop new treatment strategies. For example, specific disease-modifying targeted therapies are in phase 3 trials in both dilated and hypertrophic cardiomyopathies.

Inherited conditions can serve as genetic models for more common forms of disease. For example, PCSK9 inhibitors – a new class of lipid lowering therapy – were developed as a result of studies into familial hypercholesterolaemia.

New genome technologies are also offering the promise of new therapies through gene repair or replacement.

Take a family history. For example, the evaluation of a patient who has collapsed might be very different if we know that a family member died suddenly early in life.

Be aware of when genomics could be relevant and know when and how to refer for specialist advice. All patients with a potentially inherited condition should have the opportunity to be assessed by a specialist Inherited Cardiac Conditions service, and most will be managed in partnership with such a team.

Be familiar with the genomic test report and what to do with genomic data in the clinic. For example, will the results influence family management, prescribing and so on? Genetic test results should only be returned to the patient by those confident and competent to do so.