By Andrew Waxler, M.D., FACC, Berks Cardiologists Ltd.

Cardiac disease affects millions of adults across America and is a leading cause of morbidity and mortality. Despite recent advances in the medical and surgical management of a broad array of cardiac disorders, the standard approaches to diagnosing cardiac disease are decades old.

Fortunately, the diagnostic landscape is beginning to evolve, and new methods can help to improve the speed and accuracy of diagnosis while reducing the risks associated with existing approaches. Diagnostics in a variety of non-cardiac indications have already benefited from the increasing ability to access individual patient’s genomic information, enabling the development of novel tools that can identify the underlying molecular cause of disease.



This new era of personalized medicine helps physicians to develop treatment regimens that are most likely to be safe and effective based on each patient’s unique biology and genetic makeup.

The application of personalized medicine to the diagnosis of cardiac diseases, such as coronary artery disease, has been hampered by the multifactorial nature of these conditions. Unlike some types of cancer, in which a specific genetic change provides insight into the cause of disease and how best to treat it, many cardiac disorders involve multiple genetic variables as well as other factors. The connections between genetic variation and cardiac status are not always clear cut or directly correlative, and genes alone cannot inform an array of diseases that are known to have significant age, gender, diet and lifestyle components.

Despite these challenges, ongoing research into the biology and genetics of heart disease are enabling the development of new diagnostic and prognostic tools that are able to account for patients’ unique genetic profiles. Additionally, the clinical potential of these emerging technologies is gaining wider visibility among the cardiology community.

Recently, the American Heart Association (AHA) convened a panel of experts to survey this evolving landscape, review the growing body of data related to personalized medicine approaches that utilize omics and the expressed genome, and to provide their perspectives on the impact that these technologies may have on cardiovascular patient care. The resulting statement, The Expressed Genome in Cardiovascular Diseases and Stroke: Refinement, Diagnosis, and Prediction, was published in Circulation: Cardiovascular Genetics. The statement’s authors look optimistically on the progress made to date in leveraging the expressed genome to advance novel diagnostic and prognostic methods. The authors also cited two currently available commercial tests as examples of this progress.

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