The Emerging Impact of Precision Medicine:

On January 20, 2015, President Obama announced the Precision Medicine Initiative in his State of the Union address. But what exactly is “Precision Medicine”? It represents an emerging paradigm for disease treatment and, importantly prevention, that takes into account an individual’s unique genes, environment, and lifestyle, among other clinical parameters. The ability to add genetics to clinical practice has increased with the growing availability and reduced cost of genetic information and direct to-consumer testing. Precision Medicine allows physicians to practice personalized medical care, tailoring medical treatments to the individual characteristics of each patient. In fact, the term “precision medicine” in practice has so much overlap with “personalized medicine”, they are often used interchangeably.

As medicine is most commonly practiced today, your treatment plan doesn’t have all that much to do with you specifically, but is rather tailored towards your illness instead, and is roughly the same approach being used for most patients with similar conditions. If the first treatment doesn’t work, doctors and patients move on to the next one and the next. It’s a similar process unfortunately to trial and error, and while it may work for some patients, scientific progress now affords us the tools to potentially change this schema.

Current treatments are usually based on the results of large, well-done clinical trials that demonstrate in an overall group of patients with a certain disease and baseline characteristics, that a group receiving a treatment fares better than a similar group that receives a placebo. This data is then extrapolated to the general population.  However, even in the positive group, there is a high degree of variability of response to the treatment, with some participants not even responding at all to the treatment. The concept of identifying these patients lies at the heart of personalized medicine. Preventive or therapeutic interventions can then be focused on patients that achieved benefit, thereby streamlining medical care, saving money, and making treatments more effective while saving patients unnecessary side effects.

Besides the preventive and treatment potential of precision medicine, a third aspect, “pharmacogenomics” is currently in broad clinical use. Pharmacogenomics measures how genes affect a person’s response to particular drugs. This field combines the science of drugs and genomics to develop effective, safe medications and doses that are tailored to individual variations in a person’s genes.

While personalized medicine’s greatest strides have been in cancer, genomics has added a whole new layer to Preventive Cardiology. Capturing this data is a great initial step. However, integrating and interpreting the data to make it actionable for the individual is the real challenge — something that conventional doctors are not trained nor prepared to do. The main areas in cardiovascular disease where genetic analysis has been most established as a diagnostic and preventive modality are those related to inherited cholesterol abnormalities that lead to premature cardiovascular disease, those that predispose patients to potentially lethal rhythm abnormalities, and those that can provide clues in advance of the development of various forms of heart failure or cardiomyopathy and associated prognosis. All inherited heart diseases require special attention not only for the individual patient but also for their family to see if other relatives are in need of medical care.

The ability to practice precision medicine is highly dependent on the building and sharing of extensive knowledge bases and databases available to assist clinicians in taking action based on a complex combination of results. If you get sick, knowing your genome or the molecular basis of your disease can be an important piece of evidence for doctors seeking the most favorable treatment plan for you, and an important motivator for lifestyle alterations.

According to Florence Comite MD, CEO and founder of the Comite Center for Precision Medicine in New York City, “Precision medicine is a revolutionary way of thinking about medicine: A 180-degree pivot from conventional, reactive disease-care to precise, proactive health care. By integrating a client’s unique genotypic and phenotypic data, including hormones, metabolomics, lifestyle, personal and family history, we can detect, predict and reverse disease at the cellular level and optimize an individual’s health trajectory, for a health span that matches his or her lifespan. Programs like Understand Your Genome (UYG), that offer individual and clinicians a hands-on, deeply personal opportunity to discover the untapped potential of DNA to improve health care play a pivotal role in furthering the adoption of genomics and precision medicine in clinical practice. It’s one of the reasons I’m so thrilled to be hosting a UYG symposium in New York City on June 24, 2016.”

Given the above, it is likely that within the next decade or two, “one-size-fits-all medicine” will be a memory.

Lee S. Marcus, M.D., M.S., F.A.C.C.

President- Preventive Cardiology of New York