What President Obama’s precision medicine push could mean for the field of pharmacogenomics

State_of_the_Union_Screenshot_1-28-15By Josh Schwartz

Each year the President of the United States goes before Congress to present a report on the State of the Union. The range of topics covered in this address is typically quite broad, but one of the president’s newest initiatives stood out among the others: Precision Medicine.

In between talking about how to create more jobs in America and how he wants to maintain a “free and open” internet, President Barack Obama announced a push for the use of personalized information in the treatment of disease. He made it clear that it is necessary and expedient to use modern technology to provide personalized treatment for all Americans, not just those suffering from complex diseases:

“I want the country that eliminated polio and mapped the human genome to lead a new era of medicine — one that delivers the right treatment at the right time… Tonight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes — and to give all of us access to the personalized information we need to keep ourselves and our families healthier.”

The use of genetics to study and help treat complex diseases like cancer has exploded in the past decade. Writing in the UCLA Journal of Law and Technology, Michael Donovan has pointed out that, “researchers tend to focus their efforts on genes relevant for the pathology being treated” in spite of the fact that there is also a “nearly never-ending playlist” of information regarding how genes impact the body’s response to drugs.

This highlights that an important field in personalized medicine has been largely overlooked – the use of genetic information to gain additional information when treating patients with commonly prescribed drugs. This field of study, known as pharmacogenomics, has only recently started to gain a foothold in clinical practice.

“Pharmacogenomics” describes the broad study of how multiple genes together (and sometimes the entire genome) affect drug therapy and response. “Pharmacogenetics” is then generally used to describe testing for variants in one specific gene that could have an impact on drug response.

Since the 1950’s, scientists have known of the relationship between drug response and genetic variation, according to the textbook “Pharmacogenetics” by Wendell Weber. Yet even in the 21st century, when many drugs have had specific guidance published in their product inserts regarding which genetic variations affect drug response for years, the utilization of this information has not become a standard of care. This is concerning, considering many patients’ lives depend on drugs that vary in effectiveness based on the specific version of a gene each patient expresses. This, in addition to the potentially life threatening reactions a patient may have to an otherwise helpful drug due to their genetics.

While Donavan writes that some believe physicians are liable for knowing the information in drug labels related to pharmacogenetics, only a small number of clinicians actually use this information regardless of the clear clinical utility of available testing. Surveys have found that barriers to clinician use of this information include a lack of education and a lack of confidence in using the information, even if they have a basic understanding of how the testing could be beneficial.

A key objection from health care providers is the lack of “outcomes data” – research definitively showing the implementation of testing improves patient outcomes, despite other variables at play. Some in the field might feel this is a disingenuous objection considering the mechanism of the interactions caused by genetic variations is well defined in research.

In addition, this information is significant enough to have led the U.S. Food and Drug Administration to update dozens of drug labels in the past decade and consider drug-gene interactions similar in scope to drug-drug interactions. While others may view this as an easy way to divert discussions about implementing a new service requiring additional time investment on their part, I think there is some validity to the concern.

There is little doubt the information provided by a pharmacogenetic test can be critical to finding the right medication or dose for an individual patient, but how that information is presented to a physician, and subsequently used, may have a major impact on treatment outcomes.

A static pharmacogenetic test result may be helpful at the initial point of prescribing, but how does the physician keep that top of mind for each future prescribing decision for that patient? After all, a patient’s genes will never change, and these results should be considered prior to any pharmaceutical treatment for the rest of the patient’s life.

How then is a physician able to quickly use this information to guide future treatment?  If this information – and its effects – aren’t readily available, then physicians will be hard-pressed to use it to improve outcomes beyond the initial diagnosis. So in truth, the test alone may not have the intended outcomes. This is because the accessibility and utility of this information can only be made possible through changes in how EHRs store and process genetic information and leverage clinical decision support tools to usefully put this data to work.

Though research is underway scrutinizing the clinical utility of pharmacogenetic testing, there is no “silver bullet” to encourage the broad implementation of the practice. One thing a presidential initiative may do is provide the requisite publicity to the field of pharmacogenomics. The effect of this is two-fold: public demand to know this information about themselves, and much-needed encouragement to physicians to begin implementing pharmacogenetic testing on a broader scale.

Lastly, while the President did not directly speak about pharmacogenomics in his speech, key language often used to describe the field can be found in a blog article posted on the White House’s Office of Science and Technology Policy website after the State of the Union:

“Today, most medical treatments have been designed for the “average patient.” In too many cases, this “one-size-fits-all” approach isn’t effective, as treatments can be very successful for some patients but not for others,” writes Jo Handelsman, the Associate Director for Science at the White House Office of Science and Technology.

“Precision medicine is an emerging approach to promoting health and treating disease that takes into account individual differences in people’s genes, environments, and lifestyles, making it possible to design highly effective, targeted treatments for cancer and other diseases. In short, precision medicine gives clinicians new tools, knowledge, and therapies to select which treatments will work best for which patients.”

One can hope this initiative will do much more than simply bring additional publicity to pharmacogenomics and personalized medicine in general. Research grants or educational funding surrounding the field of personalized medicine will have far reaching effects on the future of medicine.

Josh_Schwartz_Headshot_1-28-15Josh Schwartz has worked at Genelex since 2013. Josh holds a master’s degree in security and diplomacy from Tel Aviv University and a bachelor’s degree in political science from the University of Washington.

This post is one in a guest-blogging series PGx in Practice has launched that features subject matter experts from within Genelex discussing issues pertaining to pharmacogenetics and the healthcare industry.