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Pharmacogenomics (PGx)




Pharmacogenomics, also sometimes called pharmacogenetics, is the study of how our genes alter our response to medications. Variants of genes in an individual’s genetics leads to variability of drug responses. And since 75 percent of patients have at least one significant genetic variant, atypical drug metabolism is the result.


Knowing this, Helix Diagnostics hopes to offer greater testing options in this growing sector of pharmacology.


It helps to first understand that pharmacogenomics includes two assessments, pharmacokinetics and pharmacodynamics. 


Think of pharmacokinetics as what our body does to a drug. Accordingly, pharmacokinetic testing looks at how fast or slow enzymes metabolize drugs through assessing variants of these enzymes, such as cytochrome P450 enzymes. These enzymes play an important role in metabolism in up to 70 percent of medications.


A variant in one of these enzymes can lead to an absence of therapeutic threshold (the amount of drug needed in the body) for treatment. Conversely, it can also lead to an elevated level of medications in the patient that may cause harm and adverse effects. 


Regarding pharmacodynamics, think of this as what a drug does to the body.


Pharmacodynamic testing looks at how well the target receptors, ion channels, transporter proteins and enzymes respond to a given drug. Drug transport throughout the body is affected by these genes and drug response can be determined by assessing for variants of these pharmacodynamic factors. 


Genetic variations may impact a drug’s effect by altering its pharmacokinetics, pharmacodynamics, or both. Extensive research has been performed for many mental health and cardiac medications, as well as pain and neurologic medications. On average, 38 percent of patients with depression show no response to initial treatments. Focusing on the correct medication with the first prescription saves both the patient and the medical provider time, money, and from potential adverse outcomes. 




When we combine the pharmacokinetic and pharmacodynamic profiles, we get a precision list of medications that can be used for the patient, based on their individual metabolism and biological processes. Reviewing a patient's genetic profile allows a more personalized approach to medicine and eliminates trial and error for more effective, quicker and safer therapies. Helix Diagnostics therefore offers a mental health profile, cardiac profile, pain profile and comprehensive profile. 


To obtain a sample requires only a simple cheek swab. Once the sample is received at the lab, results will be available in 14 days. This is a cash pay test only and is not covered by insurance at Helix Diagnostics at this time. 


The benefits of pharmacogenomics PGx testing include: 

  • Determines best fit for individual patient medication(s) 

  • Reduces potential adverse drug side-effects 

  • Diminishes trial and error methodology 

  • Identifies possible drug-to-drug interactions by using the most advanced technology available 

  • Minimizes side effects for safer treatment plans 

  • Maximizes drug dose response for more effective medical care 

  • Painless testing uses a cheek swab application instead of needles 

  • Delivers straightforward, transparent results to physicians with easy-to-read reports 

  • Improves patient compliance to a medication and treatment plan 

  • Provides safer medications and doses tailored for each unique patient’s need 

  • Identifies if current medication(s) are appropriate treatment options or if a modification may be warranted 

  • Current panels include: psychiatry, cardiac, pain and comprehensive panels


"Prescribing a drug that does not work for the patient is a serious problem. If the drug causes a serious side effect … that is a potential tragedy."

  • Francis Collins, MD, PhD, Director-NIH





We welcome the opportunity to partner with you. Simply send us an email and one of our team members will be in touch shortly.

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