Pharmacogenomics is a big word for a pretty simple idea – it refers to how your genetic makeup influences your response to certain medications.
You are, genetically speaking, 99.9% identical to any other human being. But those minuscule differences can have an enormous impact on how your body functions and can influence your daily life in ways you may not give a second thought to - like which heartburn medication you set to auto refill on Amazon Prime.
What is it?
Pharmacogenomics aims to personalize medical treatment by tailoring drug therapy to an individual's genetic profile. By identifying genetic factors that affect drug response, healthcare providers can optimize medication selection, dosage, and treatment plans to maximize efficacy and minimize adverse effects.
How it works?
Genetic variations in enzymes responsible for metabolizing drugs can impact how quickly or slowly medications are used by the body. This, in turn, can impact drug levels in the bloodstream that may influence how well the drug works and your risk of adverse reactions.
Genetic variations in drug targets, such as receptors, can influence drug efficacy and response. For example, certain genetic variants alter the binding affinity of drugs to their targets, affecting treatment outcomes.
Why do it?
Pharmacogenomics holds promise for advancing personalized medicine and improving patient care by leveraging genetic information to optimize drug therapy and enhance treatment outcomes.
This may be particularly meaningful for patients with medications that don’t seem to be working well, multiple medications, new prescription needs, and medications that seem to be causing side effects.
The end goal of pharmacogenomics is to optimize patient care, increase prescribing efficiency, minimize the risk of side effects, and reduce medication trial and error.
But wait, there’s more.
Pharmacogenomic testing has the potential to enhance treatment outcomes across healthcare settings, yet challenges including integrating genetic testing into routine clinical practice, interpreting test results, and translating genetic information into actionable treatment decisions exist. And as with any genetic testing, not every gene you have is tested. Don’t get me wrong, these tests can provide a lot of information, but it’s important to know their limits.
Choosing the best test
While the Food and Drug Administration (FDA) regulates medications for safety and efficacy, the Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines on how genetic information can inform drug dosage and selection. CPIC guidelines often complement FDA guidance to optimize medication use based on specific genetic variations.
Most laboratories play close attention to what these groups have to say regarding what genes to include on a given panel. Crossing multiple classes of drugs, including psychiatric, analgesic, cardiovascular, and oncology medications, among others, genes that tend to be included are those:
· that influence drug metabolism, efficacy, or adverse reactions,
· with common genetic variants,
· with well-established associations between genetic variants and drug response,
· that provide actionable information to guide medication selection, dosing, or monitoring, and
· on which there is a consensus from expects, including CPIC, clinicians, pharmacists, and geneticists.
Choosing the “best” pharmacogenomics test depends on many factors, such as insurance coverage and specific testing needs. It is imperative that you engage in shared decision-making with your healthcare profession. Consulting with healthcare providers, including your primary care provider, pharmacist, and genetic counselor, can provide valuable guidance in selecting the appropriate lab.
Cost
Out of pocket cost for pharmacogenetics is highly variable and dependent not only on who orders the test, but under what insurance and what plan. I recommend talking directly with your insurance company about coverage for pharmacogenomics or reaching out to the laboratory’s customer service department to inquire about their specific billing practices.
Still have questions?
Schedule an appointment with a genetic counselor. As with any other genetic test, talking through the benefits, limitations, and risks of a test may help you feel more comfortable and knowledgeable about your decision whether to pursue it or not.
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