The science and benefits behind pharmacogenomics

Mental health serves as the main focus for pharmacogenomic testing, says Equitable

The science and benefits behind pharmacogenomics

Jovana Budisin enthusiastically enjoys working with drugs and the purpose they serve. The director of pharmacy benefits at Equitable says no day is ever the same because new drugs and medications are always coming out. “There’s so much movement in this space,” she says. “I help our clients as a pharmacist and as an insurer, so I have to wear both hats.”

The evolution of medicine is pivoting towards a more personalized approach, with pharmacogenomics playing a pivotal role in tailoring treatments based on an individual’s genetic makeup. This emerging field is poised to revolutionize the way chronic conditions and mental health are managed, with significant implications for employee benefits plans.

Even though pharmacogenomics and pharmacogenetics are often used interchangeably, they differ slightly in scope, explains Budisin. Pharmacogenetics focuses on how one drug is metabolized by multiple genes across different people. It examines the relationship between individual genetic variations and drug responses.

In contrast, pharmacogenomics takes a broader approach by looking at a person's entire genome to predict how they will respond to various medications. “While pharmacogenetics was the precursor, pharmacogenomics has expanded into a more comprehensive field that includes pharmacogenetics as a subset,” she highlighted. This evolution also allows for more precise medical decisions, making it possible to predict how different drugs will interact with an individual's unique genetic profile.

The science behind pharmacogenomics is quite intricate. As Budisin explains, it involves analyzing an individual’s DNA to identify genetic variations that affect drug metabolism. Techniques like polymerase chain reaction (PCR) are used to amplify genes, enabling the detection of mutations that may impact how drugs are processed in the body.  

Budisin points out that while pharmacogenomics is more commonly used in research settings, pharmacogenetics, which deals with individual assays, has become widely commercialized. In some cases, this technology can be employed proactively, especially in fields like mental health, where it’s already widely used, to guide treatment decisions based on genetic markers.

Pharmacogenomics can be integrated in two main ways: reactive and proactive testing, notes Budisin. “Reactive testing occurs when a patient isn’t responding well to a drug, or when they experience adverse side effects,” she explains. In this case, pharmacogenomic testing can identify whether genetic variations are affecting how the drug is metabolized.

"For example, if someone is a fast metaboliser, that drug is not going to get a chance to work in that person, while if someone is a slow metaboliser, that drug is going to accumulate and cause side effects."

Proactive testing, on the other hand, is often used in oncology. Here, genetic testing can guide physicians in selecting targeted therapies that slow down tumour growth by affecting specific proteins involved in cancer cell signalling.

“This is the key,” she says. “It doesn't mean that you're going to react normally to a drug, and it [also] doesn't mean that you're not going to get a side effect but at least we know something more that can help us manage the side effect profile that we didn't know before.”

The landscape of pharmacogenomics coverage within benefits plans is evolving. Over the past five years, extended health coverage has increasingly begun to include pharmacogenomics as an optional benefit. At Equitable, for instance, employers can add pharmacogenomic testing to their plans at an affordable rate. If an employee qualifies for testing—such as when they face side effects or ineffectiveness from a drug—their plan will cover the cost of the test. Equitable has partnered with a company called Personalized Prescribing Inc., which specializes in offering these tests.

Budisin emphasizes that the partnership is critical, as it ensures that the tests are performed accurately and ethically. "The patient experience is key,” she says. “It’s not just about doing the test. It’s about the entire follow-up process, ensuring the patient understands the outcomes and the physician receives a clear recommendation, which they’re free to take into consideration."

Mental health conditions represent a significant portion of pharmacogenomic testing, with approximately 90 per cent of tests focusing on mental health medications. Mental health treatments can be a lengthy process of trial and error, as patients often need to try multiple drugs before finding one that works. This process can be shortened dramatically with a pharmacogenomic test, notes Don Bisch, director of group product and marketing at Equitable.

“Not only does it reduce some of that trial and error and some of the unnecessary suffering and side effects for the patient, but it also means they're on the right drug sooner, and the drug plan isn't paying unnecessarily for these drugs that aren't working,” says Bisch.

So far, feedback from employees who have utilized this service has been overwhelmingly positive. "A majority of people are extremely happy because something positive happened as a result of the test, like a change in medication or fewer side effects," Budisin highlights. "There's also research that suggests an up to 30 per cent decrease in adverse outcomes when using genotype-specific care."

Despite the promise of pharmacogenomics, however, Budisin cautions that there are important considerations to keep in mind when it comes to pharmacogenetics and employee benefits. "Privacy is a big deal," emphasizes Budisin. "We can't just ask for genetic information, and there are strict laws and consent forms that need to be followed."

Regulations are in place to ensure that employers and insurers cannot misuse this data, but at the end of the day, Budisin cautions patients need to be fully informed about how their genetic data will be used and protected.

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