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.

One example cited in the statement, the Corus CAD blood test, is used in the outpatient setting to help doctors rule out obstructive coronary artery disease (CAD) in stable symptomatic patients with suspected CAD. The Corus CAD test utilizes the age, sex and gene expression score (ASGES) to provide the real-time likelihood that a patient has a significant coronary artery blockage. The AHA Statement noted that the Corus CAD test is supported by the largest body of gene expression profiling data for CAD, and stated that the test has been proven to be valid and useful. The Corus CAD test can be used as a first-line diagnostic to rule out the need for riskier and more expensive tests for patients who return a low score (≤15 on a scale of 1-40).

Despite their clinical potential, a number of obstacles are hindering the widespread adoption of personalized diagnostic tests in routine cardiology practice. A challenge common to all emerging technologies is a general lack of visibility and awareness among clinicians and patients. The principal of “first do no harm” may also slow the adoption of medical innovations, as clinicians often wait for guidelines or governing bodies to recommend or include these newer technologies. This could take years and even decades before new medical advancements are mentioned in guidelines. The recent AHA Statement is an important step in addressing these challenges in cardiology. Lack of managed care coverage is also a significant barrier to making new technologies available to patients who may benefit from them. Improving patient outcomes while holding the line on the cost of delivering excellent care requires that payers more rapidly evaluate the potential health and cost benefits of medical innovations and include them in their medical coverage policies and formularies.

In today’s dynamic and evolving health care landscape, physicians and payers are increasingly under pressure to improve the quality of care while reducing costs. Innovative technologies that enable personalized medicine can help to reduce the risk of adverse outcomes while optimizing safety and efficacy at the individual patient level, both of which are essential for containing costs. Supporting broader coverage and wider adoption of novel tools for personalized cardiac care is good for patients’ hearts and the business of managed care.

About the Author: Andrew R. Waxler, M.D., FACC, is a cardiologist with Berks Cardiologists Ltd., Wyomissing, Pennsylvania. and treats patients at Penn State-St. Joseph Medical Center and Reading Health Center in Reading, Pa. Board-certified in cardiology, internal medicine and nuclear cardiology, Dr. Waxler earned his medical degree from the University of Pennsylvania School of Medicine in Philadelphia. He completed his internal medicine residency at the University of Pittsburgh Medical Center in Pittsburgh and cardiology fellowship at Penn State Hershey Medical Center, Hershey, Pa.