Pharmacogenomics Testing

Pharmacogenomics (or PGx) is the study of how a person’s genes affect their response to a specific medication. This helps in personalisation (precision) of medications to make them safe and effective or tailored to each patient for better therapeutic outcome. It can help identify if certain medications may not be effective or may cause unwanted side effects. PGx therefore helps healthcare providers including GPs to determine the appropriate medication dosage. Most importantly, PGx helps to select an individualised treatment that is most likely to work based on the genetic makeup of the patient in front of them. This new field combines the science of how medications work, called pharmacology, with the science of the human genome, called genomics.

DNA is the source of all the proteins that make up our bodies, including the therapeutic targets of drugs and the enzymes that process them for easy removal. For a medication to work, enzymes must break the drug down so your body can absorb it and have an effect. PGx tests the functionality of a person’s enzyme. For example, if a person is taking Tramadol, which is a prodrug (inactive) and the enzyme needed to break it down (CYP2D6) is a slow metabolizer, the therapeutic effect which is pain relief might not be achieved. An increase in dose by taking an additional pill might still not have the effect and it might even cause unwanted side effects. In this situation, an alternative medication may be needed. Therefore, variations in our DNA code influence the effects of medications. By looking closely at the DNA code, it is possible to better predict the optimal doses, effectiveness, and risk of adverse effects of medications.

Your genes can account for up to 95% of how your body responds to medication. For example, your body may process a drug slower or faster than the average person, which can affect your therapeutic outcome or your risk of side effects.

Our testing produces a report that tells you if the genes responsible for putting a medication to work in your body are functioning properly. If they’re not, a common drug that’s safe for most could be ineffective or even dangerous for you. PGx testing is really the only way to know this before you begin taking a drug. While this does not necessarily mean a PGx test will be relevant to a medication you are currently taking, nearly everyone tested will have a variation in their genes that applies to how their body processes medications.

PGx testing provides information about potential gene-drug interactions that may affect the way your body metabolises or responds to medications commonly prescribed but not limited to:

• Depression
• Anxiety
• Schizophrenia
• Bipolar disorder
• ADHD
• Other mental health conditions
• Neurological disorders
• Cardiovascular disease
• Contraceptives and Hormone Replacement Therapy
• Chronic or acute pain
• Blood pressure (elevated)
• Diabetes
• Cholesterol (elevated)
• Cancer
• Arthritis
• Acid reflux
• Peptic ulcer
• Migraines
• Heart attack

The U. S. Food and Drug Administration (FDA) currently has pharmacogenomic information listed in the package labelling of more than 250 medications, while the Clinical Pharmacogenetics Implementation Consortium has gene-drug interaction information for about 150 medications, including many of the most prescribed, and this number continues to grow as evidence becomes available. Testing can apply to prescription medications, over-the-counter medications, herbal supplements, nutraceuticals and recreational medications.

In many cases the genetic links with medication are well established. In fact, many common medications such as Warfarin and Statins already contain advice for prescribers if they know certain genetic information about you. But without doing a PGx test, your healthcare provider will not know what applies to you so they will not have all the information they need to make the best prescription choice for you, resulting in the trial-and-error approach.

The recommendations included in our reports are supported by peer-reviewed scientific publications and validated clinically actionable evidence from the Clinical Pharmacogenetics Implementation Consortium (CPIC), Dutch Pharmacogenetics Working Group (DPWG) and other leading scientific groups.

Some recommendations also come directly from clinical guidelines, drug labels issued by organisations such as the Food and Drug Administration (FDA), and the Medicines and Healthcare products Regulatory Agency (MHRA). AttoDiagnostics ensures that the information in your report comes from credible scientific sources that are experts in the field.

Not all medications will have dose recommendations, and those with dose recommendations are dependent on your results. In some cases, you may be advised to avoid using the drug, use it with caution, or use it as directed on the drug label.

Taking prescribed or non-prescribed medication will not affect the outcome of a PGx test report. In any case, it is not recommended to stop or modify your current treatments without the approval of a healthcare professional. It is therefore advised to continue your treatments as recommended by your healthcare professional.

Our current testing and reporting includes 120 ADME markers and copy number variation of the CYP2D6 gene. We are only looking at the genes that have a known impact on how your body processes medications. Genes tested include, but aren’t limited to, the Cytochrome P450 enzymes - CYP2D6, CYP2C9, CYP2C19, CYP3A4/5, and others. Other proteins, such as VKORC1 and SLCO1B1 represent drug targets and transporters, respectively.

Until recently, medications have been developed with the idea that each drug works pretty much the same in everybody. However, genomic research has changed that “one size fits all” approach and opened the door to more personalised approaches to using and developing medications.

PGx testing:

• Gives your healthcare provider insight into which medications may work best for you
• Reduce your risk of harmful drug experiences or adverse drug reactions
• Helps your doctor prescribe the correct dosage for you
• Potentially reduces your recovery time after procedures or diagnoses
• Saves money by reducing unsuccessful medications (trial-and-error)

Unlike other PGx products, AttoDiagnostics platform is more than a simple DNA test. It’s a precision medicine platform designed to look at the whole patient and takes a deeper dive into all contributing factors that may be interfering with a patient’s medication or therapy. Our report is individualised for patients based on a plurality of factors like chronic diseases, comorbidities, and lifestyle factors. The report takes into consideration gene-drug, drug-drug, and drug-clinical-physiological interaction to help recommend the most appropriate treatment in terms of efficacy and tolerability for the patient.