How Pharmacogenomics may finally realise its promise
More than 60 percent of all American adults take prescription drugs, amounting to approximately 131 million individuals. These drugs have been rigorously tested by regulatory bodies around the world before they’re made available to ensure they work as labelled, but despite that, adverse events crop up.
In 2016, the estimated annual cost of drug-related morbidity and mortality resulting from non-optimised medication therapy was $528.4 billion in the United States alone. The system did not only spend money and resources trying to address issues caused by those treatments, but patients also wasted time looking for answers; precious time that could have been spent receiving proper and effective treatment.
Pharmacogenomics, the understanding of how genes impact an individual’s response to medications, provides a potential outlet to better optimised therapies. There have been great strides made in genomics to refine tools that determine the safest, most effective course of treatments for patients across a number of disease states. The industry is reaching a tipping point where technologies are coming closer to delivering on its strong promises in improved healthcare for countless patients, helping to dramatically decrease costs across the board.
One example of how this technology is already making a difference in the field is the Teachers’ Retirement System of Kentucky, which recently launched a pilot program for its members. First, members who opt-in to the program receive a saliva collection kit, which is analysed using newly developed pharmacogenomics technologies. The participants undergo monitoring for genetic variations that could potentially negatively impact their reaction to therapies. Identifying those variations helps to target medication changes that can be safer and more effective.
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 prescribed to increase safety and efficacy. The program is orchestrated by Coriell Life Sciences, and nearly half of the 5,000 enrolled members have already made immediate shifts to their medication regimen which are showing positive results, both from an individual impact as well as a cost-savings perspective.
Looking at an individual’s genomic profile also provides an understanding of appropriate medication dosage. Some people are hyper-metabolisers, meaning a drug may move too fast through their system and not deliver the intended therapeutic effect; while others may metabolise a drug too slowly, triggering an adverse side effect or overdose. This means that hyper-metabolisers would need their dosage to be increased to achieve the desired effect. On the contrary, poor metabolisers might need their dosages to be reduced to prevent adverse events. Plavix, for example, is one of the largest selling drugs in the world but about 29 percent of the population can’t metabolise it.
Many FDA-cleared drugs have pharmacogenomics data on the label, which indicate the biomarker information to help guide decisions regarding the use of the therapeutic in individual patients. By adhering to this data, clinicians can make sure the right patients are being treated with the right therapies, and in turn, can potentially avoid dangerous side effects. Even if that drug costs more than an alternative option, the individual and the health system at large will save money by eliminating the waste of trying drugs that won’t work for the patient. Pharmacogenomics is ushering in an era where we can eliminate those struggling with a trial-and-error system that leaves many getting sicker even when effective treatments exist for them.
With this promise beginning to be realised, it’s on drug makers to use genomic testing to steer their development process. A focus needs to be placed on ensuring that therapeutics are not only effective, but also safe for patients. The best way to do that is to target specific sub-populations, which will serve as a natural lead into personalised medicine becoming more mainstream.
The significance of pharmacogenomics lies in the fact that it can improve situations for the overall health system, clinicians, and patients alike. Patients can benefit most from targeted therapies that are tested to work best with their bodies to help their ailments, which saves both money and time that many don’t have. Doctors can also cut down on the guesswork involved in finding treatments, enabling them to see more patients. The system overall, in turn, sees a decrease in waste, with patients spending less time exploring treatment methods that aren’t the right fit, and fewer therapies being misused in those that won’t benefit from them.
The current healthcare system, unfortunately, sees pharmacogenomics testing as a reactive strategy. Instead, patients and clinicians need to view it as a first step, helping to guide care from the beginning of the patient journey. 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. The program is aiming to genotype roughly 150,000 participants over the next few years to demonstrate the impact personalised testing can have on a large scale.
In the near future, more testing must be put into place and standardised throughout the industry. Patients should undergo that surveillance even before health issues manifest as a result of misguided treatment options. The tools to do so are available and have been for a while, but are finally in a place to make a tangible difference in how care is delivered on a national scale.
About the Author
Manoj Gandhi, MD, PhD, is the senior medical director for the genetic testing solutions business at Thermo Fisher Scientific, and is part of the team that provides medical strategy, medical and scientific oversight for product development, on-market product support, and customer engagement.