The estimated annual cost of drug-related morbidity and mortality resulting from non-optimized medication therapy was $528.4 billion in the United States alone in 2016, equivalent to 16 percent of the country’s total health care expenditures. Pharmacogenomics, the understanding of how genes impact an individual’s response to medications, promises to change that. Significant progress has been made in using genomics to determine the safest, most effective course of treatments for individuals and, as these programs scale and go mainstream, we have reached a tipping point where they are starting to deliver on their promise of improving the health of communities and significantly lowering healthcare costs. 

As one example, the Teachers’ Retirement System of Kentucky recently launched a pilot program that is already showing positive results from both an individual impact and cost-savings perspective. First, members who opt-in receive a saliva collection kit which is analyzed using one of Thermo Fisher Scientific’s pharmacogenomics technologies. Next, pharmacists review the participant’s genetic results – along with health data such as drug, lifestyle and food interactions – to customize a “Medication Action Plan” that members’ physicians can access to determine which drugs should be changed to increase safety and efficacy.

More than 35,000 retirees are eligible for the program run by Coriell Life Sciences  and, so far, more than half of the nearly 5,000 members who have enrolled have made an immediate change to their medication plans. “A significant portion of the population has genetic variations that negatively impact how they will respond to medications,” says Scott Megill, Coriell’s president and CEO. He adds, “We’re able to now specifically target those individuals for medication changes, and get them on a safer, much more effective regimen.”

Looking at an individual’s genomic profile also provides an understanding of appropriate medication dosage. Some people are hyper-metabolizers, meaning a drug may move too fast through their system and not deliver the intended therapeutic effect, while others may metabolize a drug too slowly, triggering an adverse side effect or overdose. Plavix, for example, is one of the largest selling drugs in the world but about 29 percent of the population can’t metabolize it. 

Ed Abrahams, president of the Personalized Medicine Coalition, says today one in four drugs that the FDA approves has pharmacogenomic data on the label, indicating biomarker information to help guide decisions regarding the use of the therapeutic in individual patients.
“If the right patient is treated at the right time with the right drug, side effects can be avoided, inefficiencies can be avoided,” says Abrahams. “And even though these medications may individually cost more, the health system at large can save money because we’re eliminating waste in the system. Once upon a time, we gave the same drug to everybody whether it worked or not. We’re moving away from one-size-fits-all, trial-and-error medicine to one that we call targeted therapeutics, or personalized medicine.” 

Realizing the opportunity to advance medicine, drug makers are also starting to use genomic testing to guide drug discovery and development. Abrahams states: “The pharmaceutical industry now understands, especially in cancer, if it wants to get a drug approved it has to demonstrate high levels of efficacy and safety, and the only way to do that is by targeting sub-populations, ergo creating personalized medicines.”  

As president of Thermo Fisher's Life Sciences Solutions segment, Peter Silvester leads the businesses responsible for developing products and workflows to enable translational research, genetic analysis and genetic sequencing. He sees pharmacogenomics as a win-win-win for the healthcare system, doctors and patients. “For patients, the outcomes are much better when the therapy is targeted and when the patient knows that the drug is going to work for them; they don’t waste time on a medication that doesn’t work and, in some cases like cancer, people just don’t have time. They really need to get the best medication the first time around,” says Silvester.

Looking to the future

The current healthcare system is structured around reactive-based genetic testing, but Dr. Philip Empey, faculty member at the School of Pharmacy and associate director for pharmacogenomics at the University of Pittsburgh’s Institute of Precision Medicine, imagines a future where testing is shifted earlier so physicians and pharmacists can use patients’ genomic information to proactively inform decisions about their care.

Earlier this year, Thermo Fisher and the University of Pittsburgh launched a new Pharmacogenomics Center of Excellence that aims to demonstrate the value of pre-emptive pharmacogenomics testing in routine clinical practice. Dr. Empey leads the Center and believes the ambitious collaboration to genotype 150,000 participants over the next several years will demonstrate that targeted testing can be deployed clinically at population scale.

“We already have a successful initiative at the University of Pittsburgh called PreCISE-Rx where we’ve implemented genetic testing in everyday practice. We’re ready to scale the model and develop best practices for many more drugs and genes,” says Dr. Empey. He predicts giving patients access to their genomic data will also help drive medication adherence and empower them to be more engaged in their own care.

Thermo Fisher’s Peter Silvester echoes Dr. Empey’s enthusiasm: “I’m incredibly excited about the potential for precision medicine and pharmacogenomics. The theory is very simple, and in practice the techniques to perform precision medicine have been around for a long time. What has changed over the last several years is that the cost has come down, the research data has improved and we’re in a position where we can now apply pharmacogenomics at national scale. It’s going to be an incredibly exciting next couple of years.”