“It’s far more important to know what person the disease has than what disease the person has.” — Hippocrates

The year 1953 ushered in the human genome era with the discovery of the double helix. The dawning era of personalized medicine represents the second wave of this revolution; rather than waiting to react to symptoms, physicians can know genetic predispositions through testing and be more predictive in diagnosis and treatment. Clearly, science has given physicians the tools to better know the patient.

Challenges to Clinical Implementation of Personalized MedicineTo better understand the cardiovascular mindset resulting from this new wave of medicine, CardioSurve explored the perceptions of personalized medicine and its future. The research asked cardiologists to first define “personalized medicine.” Nearly three out of four (72%) cardiologists cited genetic testing as the key defining attribute while approximately half (53%) of the panel responded with molecular diagnostics. Additional considerations for age (56%), gender (56%), race (52%) and co-morbidity (49%) were also viewed as aspects of personalized medicine.

"When the human genome was sequenced in 2003, the implications for cardiovascular and stroke medicine – in terms of the new diagnostic, therapeutic and preventive strategies that may ultimately result – were immediately recognized.” — Alison E. Baird, PhD., “Genetics and Genomics of Stroke”, JACC, Vol. 56, No. 4, 2010

Today, few cardiologists are incorporating personalized medicine into treatment – only 7 percent of cardiovascular patients are being treated with personalized medicine. Patients are often stewards of their own treatment, inquiring about therapies they have seen advertised. However, patients clearly are not familiar with personalized medicine since cardiologists report that only 6 percent of patients are even asking about personalized medicine.

This light usage, or lack thereof, is largely due to the fact that the majority of cardiologists do not feel that personalized medicine is impacting the treatment of their patients suffering from cardiovascular disease. The primary instigator of the short-term skepticism is that 75 percent of these cardiologists believe that there is a lack of patient outcome data in regards to the implementation of personalized medicine technologies.

Additionally, there are reimbursement concerns for these tests (68%), a shortage of physician education such as CME on the topic (66%), and a lack of guidance from professional societies/associations (55%) on personalized medicine.

In the winter of 2010, the U.S. Food and Drug Administration (FDA) updated the labeling for the anticoagulant Warfarin with pharmacogenomically-guided dosing ranges. Also, in the spring of 2010, the FDA issued a boxed warning on the label for PLAVIX® which informed healthcare professionals that tests are available to identify genetic differences in the functionality of the CYP2C19 liver enzyme. Given this background, nearly two-thirds (63%) of cardiologists treating patients still do not believe that genetic information is currently very helpful in setting the initial Warfarin dose for their patients, and only 6 percent of patients being treated with Plavix for the first time are receiving genetic testing to guide treatment. The primary challenge to the clinical implementation of personalized medicine stems from uncertainty over the value of genetic testing from both therapeutic and financial perspectives. Additionally, the number of cardiologists employing personalized medicine techniques will see limited growth in the near future.

This trend will likely change as personalized medicine develops and becomes more established in the area of proven patient outcomes, education and reimbursement. In the next five years, 73 percent indicate that personalized medicine will have some measurable impact on cardiovascular patient treatment and within the next 10 years, more than nine out of 10 cardiologists believe that personalized medicine will have a larger role in cardiovascular patient treatment.

"The answer to the specific question of the role of genotyping in everyday practice remains unknown at the present time.” — David R. Holmes, Jr., et al., “ACCF/AHA Clopidogrel Clinical Alert: Approaches to the FDA ‘Boxed Warning’”, JACC, Vol. 56, No. 4, 2010

Also encouraging to the advancement of personalized medicine, a strong learning gap exists in this emerging field: more than half (58%) of cardiologists do not feel confident in their understanding of personalized medicine. However, 54 percent of cardiologists are very interested in expanding their knowledge about personalized medicine, which presents an important educational opportunity.

The optimal term to encapsulate the perception of today’s cardiologist in regards to personalized medicine is “potential.” If the evidence-based outcomes research progresses with educational content and payer reimbursement, then the promise of personalized medicine can be realized.