Pharmacogenetic testing (PGx) for better outcomes in every care setting

Whether you’re looking to move away from a one size fits all approach to your prescribing practices or reduce costs and negative outcomes associated with trial-and-error prescribing, incorporating a pharmacogenetic test into your treatment model is a increasingly reliable means of getting better results and healthier patients.

A while back, we collaborated with precision diagnostics leader Access Dx to present a webinar discussing the value of pharmacogenetic (PGx) testing across care settings. While we encourage you to watch the webinar itself, we know you may not have the time – so we’ve hit on some of the important points below in hopes that it might open up a conversation on introducing PGx testing into your practice.

What is PGx and why is it becoming a standard of care?

Pharmacogenomics is the study of how a person’s genetic makeup affects their response to medications. PGx testing uses pharmacology and genomics to identify genetic differences,  Leveraging this information enables a prescriber to choose the best medications and treatments for patients. It also reduces the chance of harmful side effects. Despite limited clinical trial data and the existence of ever-expanding genetic profiles, we’ve managed to develop medications that work for many patients – but nowhere near all of them.

While the field of PGx was first introduced in the 1950s, it’s only gained traction over the last 10-15 years as clinical trial diversity and efficacy of first-line treatments have been called into question. When commonly utilized therapies prove less-than effective for a sizable portion of the patients for which they are prescribed, it’s time to introduce precision medicine.

Thanks to the rise of direct-to-consumer genetics testing companies like 23 & Me, even individuals with no clinical background are gaining an appreciation for the ability to understand one’s health by examining DNA – and while the applications are a little bit different, the underlying goal of preventing or better treating chronic illness is the same.

Regardless of the application, it’s all about the body’s ability to metabolize.

While pharmacogenomics certainly sounds like a complicated form of evidence-based medicine, what these evaluations are really looking at is an individual’s ability to metabolize a drug. Depending on a drug’s mechanism of action, specific metabolic enzymes are required to convert the medication to “active” in one’s system. If a patient has a metabolism that digests that medication too slowly (known as a poor metabolizer) or too quickly (known as a ultra-rapid metabolizer) the drug is unable to provide the desired therapeutic effect. That’s just one example of how a medication might not do its job.

For any one indication or diagnosis, there might be 15+ medications approved by the FDA, ranging dramatically in cost. This is why testing is so critical. For example, if a patient is a poor metabolizer of the active ingredient in the top three most affordable medications used to treat their illness, it’s important to know that not only will these meds not work – but that said patient may become even more sick in a way that costs a lot more for an insurer than springing for, say, the 7th medication on the list. The difference, which does add up, is likely a few extra dollars a day – but it’s certainly a lesser expense than ED visit, hospital readmission, or additional diagnostics and follow ups.

Making the case for testing – even when it isn’t covered.

While the concept of PGx testing as a regular standard of care may seem cutting-edge, its utilization in precision medicine is growing faster than ever. Even the FDA has provided a set of gene-drug interactions they feel are credible for certain groups of patients.  

While not mandated, implementing PGx into the therapeutic process can make the difference when getting a “yes” from insurers. In fact, choosing to do so has the potential to significantly reduce time and money spent on therapies that just won’t work, or worse, could severely injure or worsen a patient – making the case for implementing testing even in cases where reimbursement is not available.

Even better, this kind of testing normally doesn’t need to be repeated as it is done by evaluating an individual’s DNA against a continuously growing body of peer-reviewed and consensus data. For most patients, a buccal swab only needs to be collected once, and that information is used in perpetuity for evaluating therapies for which they might be considered in the future. This ability to cross reference the patient’s results with a continuously growing body of data is also a good reason to make the initial panel highly comprehensive – so as many genes as possible are being assessed. Having all of the information available up front maximizes the cost efficacy of PGx long term – and typically the only patients who may need an updated buccal swab are those who undergo procedures that affect the DNA of specific systems, like in the case of a liver transplant.

Though we most commonly see PGx utilized in the treatment of conditions falling under cardiology, GI diseases, oncology, behavioral health challenges and pain management, it’s easy to see how these systems are areas of focus touching on nearly every care delivery setting. Whether you’re providing care in a hospital, skilled nursing, long-term care facility, or even as an outpatient clinician, it’s important to be armed with the facts when making the case to insurers and payers alike. PGx testing takes the burden out of making your case – the data says it all.


In our recent webinar presented by Center for Healthcare Solutions, Jen Devinney, Chief Clinical Officer at Grane Rx is joined by Rick Shigaki, VP Pharmaceutical Solutions at Access Dx, where they provide an even deeper dive on PGx testing, including case studies applicable to nearly every care setting. Watch it here.

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