Precision Medicine: The Future is Now

By John C. Nelson, MD, MPH

The Affordable Care Act provides a blueprint for health system reform in America. While increasing access to care, the quality of that care must be maintained or improved; and, costs must decrease.

Innovation will be a key factor to bring about change. Personalized Medicine based on genetic information (or Precision Medicine as President Obama referred to it in his State of the Union address), has the potential to be one such key.

Many see the use of genetics as only a way to study and identify those predisposed to various rare diseases. Indeed, there is much promise in this approach. However, a more far-reaching use of genetic information would be to gain a better understanding of how patients are likely to respond to drugs.

Nearly all of us have taken, or will take, medications at some time in our lives. Every single one of us has unique, drug-metabolizing capabilities centered around the cytochrome P-450 (CYP) enzymes in our liver.  These enzymes are genetically determined and dictate how we break down medication – essentially, whether we are normal, rapid or poor metabolizers.

For example, when a “standard” dose of a drug is given to a patient, there is an expected result. However, if a drug is broken down too rapidly by a rapid metabolizer, the necessary level of medication may never be achieved. Conversely, if broken down too slowly by a poor metabolizer, unusually high concentrations of the drug may accumulate with toxic, even fatal, side effects as a result. Studies have shown that more than 75 percent of patients have variations in at least one CYP pathway, and therefore may not metabolize medications the way a caregiver might expect.

This is knowledge that should make all of us responsible for patient care stand up and pay attention.

If a clinician knew before a drug was prescribed how a patient would react, prescribing would take a major leap toward becoming a more exact science.

Enter the solution: genetic testing that tells us with more certainty before a drug is prescribed if it will be effective. The science of pharmacogenomics – the study of the many genes that can affect individual differences in drug response — has made this possible today.

EHRs and ePrescribing software already check for drug-drug interactions; however, without the ability to identify drug-gene interactions, important interactions may be missed.  Genetic testing, therefore, improves the ability to determine which patients are at risk.

Impacting Costs and Patient Outcomes

Approximately $3.5 billion is spent annually on extra medical costs as a result of adverse drug events (ADEs), which is when a patient is harmed by a reaction or complication from taking a medication. ADEs account for more than 700,000 annual ER visits for Medicare patients. Similarly, 2-8 percent of hospital admissions for Medicare patients occur due to ADEs, resulting in tremendous costs.

Per a 2014 study, current methods to detect ADEs miss more than a third of potential drug interactions, masked due to unknown patient genetics. This kind of information has prompted the FDA to recommend that drug-gene interactions should be considered as important as drug-drug interactions.

The Triple Aim describes improved care of the individual, improved health of the patient population and decreased per capita costs as goals. All of these objectives may be accomplished by the appropriate use of genetic testing.

The Role of Technology

Currently, most EHR, HIE and other healthcare software systems don’t have the ability to store and mine individual genetic data in a meaningful way. Clinical decision support software already exists that can compare a patient’s genetic capacity to metabolize medications against their medication list to determine the best medications and dosages for that patient.

A greater sense of urgency is needed to integrate this kind of information and technology into EHRs in a user-friendly, patient-centered way. This will improve the drug interaction alerts physicians consider when prescribing. It’s not enough to store this information merely as a lab report. Ideally, clinically-actionable genetic results like these should be a part of the patient face sheet – as discreet data – so it can quickly and easily be accessed and used, for example, when a patient visits the emergency room.

There is currently no magic bullet to transform the healthcare system in America. However, a large step towards accomplishing the goals of the Triple Aim can be achieved with the appropriate use and availability of genetic testing and making consideration of that useful clinical information available to physicians throughout the healthcare software ecosystem.



precisionDr. John C. Nelson is a practicing physician in obstetrics and gynecology at the Health Clinic of Utah. In practice since 1975, he became Medical Director at Genelex Corporation in 2013, and served as President of the American Medical Association from 2004-2005. Contact Dr. Nelson at 800-523-3080.