Pharmacogenomics (PGx) FAQ

Pharmacogenomics (PGx) is the study of how an individual’s genetic makeup influences their response to medications. Variations in your genes can affect how drugs are metabolized, leading to differences in drug efficacy, side effects, and appropriate dosage. A PGx report provides insight into these genetic factors, allowing healthcare providers to personalize your treatment based on your genetics.

What does the PGx report provide?

The PGx report offers information on how your body responds to over 50 medications. It categorizes drugs into two groups:

- Standard precautions: Drugs that are likely to work well for you with a low risk of side effects at standard dosages.

- Use with caution: Medications that might cause adverse effects or require dosage adjustments due to your genetic makeup.

This report provides information, based on the guidelines developed by specialized organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC), the US Food and Drug Administration (FDA), Pharmacogenomics Knowledge Base (PharmGKB), and the Dutch Pharmacogenetics Working Group (DPWG). All recommendations are obtained from CPIC, FDA, or DPWG guidelines.

How does it work?

The PGx report analyzes specific genetic variants and variant combinations (haplotypes) you carry. You inherit two variants or variant combinations, one from each parent. Variant combinations are mapped to your "metabolizer type"—for instance, normal, intermediate, or poor metabolizer for a specific drug. This data helps to predict how you will process certain medications.

The detailed guidance on Pharmacogenomics report can be found either in the app, on the Pharmacogenomics page in the "Understanding PGx report" drop-down, once results are generated, or in the "How this works" section in the PDF.

How do I interpret the genetic variants and guidance in the report?

The report lists specific genes and variants associated with how your body metabolizes certain drugs. Where available, drugs come with prescribing guidance, including

the recommended dosage or alternative treatments based on your genetic profile.

What are metabolizer types?

Metabolizer types reflect how efficiently your body processes drugs. These include:

• Normal Metabolizer: You process the drug as expected.
• Intermediate or Poor Metabolizer: You process the drug slower than normal metabolizers. In some cases, you may require a lower or a higher dose or an alternative medication.
• Rapid or Ultra-Rapid Metabolizer: You may process the drug quicker than normal metabolizers. In some cases, this may reduce drug effectiveness, in others it can make the drug more potent.
• Indeterminate Metabolizer: Your DNA file is lacking variant data to assign you any metabolizer type.

What does "use with caution" mean in the report?

"Use with caution" indicates any or all of the following:

• there may be a higher chance of side effects and toxicity
• the standard dosage may not be appropriate and your healthcare provider might adjust the dose 
• an alternative drug may be a better option when available

Does the PGx report replace my doctor’s advice?

No, the PGx report is a tool for you and your healthcare provider. It does not replace medical advice or diagnose any conditions. Always consult your doctor before making any changes to your medication regimen.

While unlikely, this report may provide false positive or false negative results. Confirm any results with an independent specialized genetic test prescribed by a healthcare professional before making any medical decisions. 

Can I use this report to adjust my medications on my own?

Do not use this report to start, stop, or change any medical treatment!  

Medications should always be taken as directed by your healthcare provider.  Self-adjusting medications based on this report can lead to unintended health consequences.

Are there limitations to the PGx report?

Yes. The PGx report focuses on genetic factors, but other factors like age, weight, medical conditions, and lifestyle also affect drug metabolism. Additionally, it does not account for all possible genetic variants or interactions with other medications you may be taking.

It does not report polymorphisms other than those specifically listed, and mutations in other genes associated with drug metabolism will not be detected. Metabolizer type reporting is limited to the following alleles: CYP2B6: *1, *2, *4, *5, *6, *9, *18, *22, *26, *28, *38; CYP2C9: *1, *2, *3, *4, *5, *6, *8, *11, *12, *13, *15, *27; CYP2C19: *1, *2, *3, *4, *5, *6, *7, *8, *9, *10 & *17; CYP3A4: *1, *3, *18, *20 & *22; CYP3A5: *1, *3, *6 & *7; NUDT15: *1 & *3; SLCO1B1: *1, *4, *5, *9, *14, *15, *19, *20, *23, *24, *25, *28, *31, *32, *37, *40, *45, *46 & *47; TPMT: *1, *2, *3A, *3B, *3C, & *4. Any allele identified as a default star-allele (CYP2B6*1, CYP2C9 *1, CYP2C19 *1, CYP3A4 *1, CYP3A5 *1, NUD15*1, SLCO1B1*1, TPMT *1) indicates the absence only of the other alleles listed and does not imply that other variants in the gene are absent. Gene deletions and duplications are not analyzed in this report.

Can this report identify all my genetic responses to medications?

No, while the report provides a wealth of information on many medications, it does not cover every possible drug or genetic variant. The report focuses on the most commonly studied and clinically relevant gene-drug interactions.

Can I see a sample report?

Absolutely! Please email support@selfdecode.com for a sample PGx report.