This report contains pharmacogenetic alleles and implications for drug response for the genetic data submitted. Both the genotypes presented and implicated medications are predictions based on the submitted data and published pharmacogenetics literature. This is not a clinical report and the data contained here in no way should be used as clinical guidance.
Sources include CPIC, FDA, DPWG, and published research interpreted by Gene2Rx. Each finding identifies its source. Evidence and clinical applicability differ; an emerging association is not an established prescribing recommendation. Gene2Rx is not affiliated with or endorsed by CPIC or the FDA.
This report includes information about how your genetics may influence your response to common substances like caffeine, alcohol, nicotine, and ketamine. For information on 100+ prescription medications, upgrade to the full report.
The implications of taking medication for which you may have an atypical response are based on probabilities. You may or may not experience any side effects or altered efficaciousness. Consult your healthcare provider before making any changes to your healthcare.
The quality of uploaded data is not verified and may contain errors that result in alterations to your pharmacogenetic report. Genotyping panels (such as those used by direct to consumer genetics services) offer an incomplete representation of an individual's genetics. You may harbor additional genetic variation that can affect drug response.
Drugs by class 4 drugs
This table contains the specific variants identified in each of the genes assessed for your Gene2Rx report. Evidence and actionability differ by gene and medication.
The "Genotype" column indicates the specific alleles identified in your DNA. These correspond to patterns of genetic variants within each gene. There are two alleles for each gene, one for each copy.
The "Phenotype" column indicates the predicted effect that your genotype will have on the function of the proteins encoded by each gene. A predicted phenotype does not measure enzyme activity directly or determine your individual treatment response. See the legend below for descriptions of the symbols associated with each phenotype.
A few genes (including CYP2D6, CYP2C9, and DPYD) get a number called an activity score instead of a single category. The score is the sum of the activity values of your two gene copies, and a higher number means more enzyme activity. Dosing guidelines for these genes are often based on the score, so we show it next to the phenotype when it applies.
| Gene | Genotype | Phenotype | |
|---|---|---|---|
| ADH1B |
rs1229984C/rs1229984C
|
Normal Function | |
| ALDH2 |
rs671G/rs671G
|
Normal Function | |
| CHRNA5 |
rs16969968A/rs16969968A
|
Increased Risk | |
| COMT |
rs4680A/rs4680G
|
Intermediate Function | |
| CYP1A2 |
*1/*30
|
Rapid Metabolizer | |
| CYP2A6 |
*1/*1
|
Normal Metabolizer | |
| CYP2B6 |
*1/*1
|
Normal Metabolizer |
Each symbol represents the predicted function of the gene. A non-normal allele does not necessarily lead to a change in drug response.
Drugs are grouped by clinical class. For each class with three or more drugs in your report, a scoreboard summarizes which medications you are likely to use as directed, which warrant caution, and which guidelines suggest you consider an alternative for. The detailed tables below each scoreboard show the underlying gene-drug findings.
Each row in the detail tables shows the generic name, brand names, gene, your gene phenotype, and how your genotype may affect drug response. Source links identify the guideline, drug label, or research used for the finding.
Therapeutic Guidance Legend
Note: A gray question mark identifies informational, uncertain, or unavailable findings. An unable-to-determine result is not clearance to use an anesthetic.
Other substances
4 drugsEach card shows the gene driving the recommendation. Use as directed = your genetics suggest a typical response. Use with caution = consider dose adjustment or monitoring. Consider alternative = guidelines suggest discussing a different drug with your provider.
Other Substances
| Generic Name | Brand Names | Gene | Your Gene Phenotype | Implication | Source | ||
|---|---|---|---|---|---|---|---|
| Alcohol | ADH1B | Normal Function | Implication: Two Arg48 alleles (rs1229984). Usual rate of ethanol oxidation. Compared with His48 carriers, associated with higher risk of alcohol dependence and, among heavy drinkers in East Asian studies, higher risk of esophageal and head and neck cancer. Only rs1229984 is assessed: ADH1B*3 (rs2066702), common in people of African ancestry, is not read, so its carriers are reported here. Therapeutic recommendation: Follow standard guidelines for alcohol consumption. | Gene2Rx | |||
| ALDH2 | Normal Function | Implication: Two Glu504 alleles (rs671 G/G, ALDH2*1/*1). Normal acetaldehyde clearance; typical risk of flushing, hangover and alcohol dependence for this gene. Therapeutic recommendation: Standard advice on drinking limits. | Gene2Rx | ||||
| Caffeine | Coffee, Tea | CYP1A2 | Rapid Metabolizer | Implication: One rs762551 A allele (*1/*30). Modestly higher CYP1A2 activity, mainly in smokers. Note: in the coffee and cardiovascular literature, A/C carriers are classed as 'slow' metabolizers. Therapeutic recommendation: Caffeine may be cleared somewhat faster than average. Standard advice on moderate intake applies. | Gene2Rx | ||
| Ketamine | Ketalar | CYP2B6 | Normal Metabolizer | Implication: Usual CYP2B6 activity and expected N-demethylation of ketamine to norketamine. CYP3A4 contributes to the same step, and the relative roles of the two enzymes are still debated. Therapeutic recommendation: Initiate with standard ketamine doses per clinical practice and titrate to effect. | Gene2Rx | ||
| Nicotine | Cigarettes, Zyn | CHRNA5 | Increased Risk | Implication: One or two rs16969968 A alleles (Asn398). The Asn398 receptor shows reduced response to nicotinic agonists in vitro. Associated with more cigarettes per day, higher risk of nicotine dependence, later smoking cessation and earlier lung cancer diagnosis in smokers. In a cessation trial, carriers of the high-risk haplotype benefited more from cessation pharmacotherapy than non-carriers. Therapeutic recommendation: Higher risk of heavy, persistent use. For patients who want to quit, offer cessation pharmacotherapy with counseling rather than an unassisted attempt. | Gene2Rx | ||
| COMT | Intermediate Function | Implication: rs4680 Val/Met. Moderately lower COMT activity. Associations with nicotine reward, withdrawal and smoking behavior are inconsistent across studies. Therapeutic recommendation: No genotype-based change to cessation treatment; monitor craving as usual. | Gene2Rx | ||||
| CYP2A6 | Normal Metabolizer | Implication: No reduced-function allele detected among those assessed. Typical nicotine clearance. The CYP2A6*4 deletion, *12 hybrid and duplications are not assessed, so reduced activity cannot be ruled out. Therapeutic recommendation: Typical response to nicotine. In smokers with normal nicotine metabolism, varenicline was more effective than the nicotine patch in a randomized trial. | Gene2Rx |
What do I do now?
If you find that you may have an atypical response to a medication you take or are considering taking, it is important that you first consult with your healthcare provider or a genetic counselor before making any changes. The sources linked beside each finding explain its evidence and limitations. Not every finding supports a treatment change.
Should I change medications or dosage based on my report?
No! Do not alter your medication dosage or stop taking your medication without first consulting your healthcare provider. Direct-to-consumer data is not clinical grade, so anything included in the report should be used as a conversation starter with your healthcare provider to seek the appropriate clinical laboratory test. Again, do not alter your medication dosage or stop taking your medication without first consulting your healthcare provider.
Why shouldn't I change my medication based on this report?
Our service relies on the genetic information provided to you by the direct-to-consumer service you paid for. Unfortunately, direct-to-consumer data is not clinical grade, so anything included in the report should be used as a conversation starter with your healthcare provider to seek the appropriate clinical laboratory test. DO NOT alter your medication dosage or stop taking your medication without first consulting your healthcare provider. Read more here and read primary research here.
Are these expert annotations?
The source is identified beside each finding. This report includes CPIC, FDA, DPWG, and Gene2Rx interpretations with different levels of evidence. Gene2Rx interpretations are not necessarily endorsed by those organizations. Gene2Rx interpretations explain the supporting research and its limitations alongside the finding.
Why would my PGx annotations change?
While your genetics don't change over the course of your life, research is an ongoing process and what we know about how an individual's genetics influences their drug response changes over time. As new research is conducted and published, the CPIC guidelines and FDA drug labels are updated accordingly. These updates only happen once new research meets strict validation requirements and experts agree it's time for a guideline change. Your report preserves the interpretations used when it was generated. Updated reports may use revised definitions or research.
I don't see my medication in the report. Why not?
Not all drugs are influenced by pharmacogenetics, and some need more research to verify an association. A medication can be absent because of your report tier, unsupported or missing genetic data, or the scope of the report. Its absence does not mean no clinical guideline exists.
Does Gene2Rx determine structural variants for CYP2D6?
Structural variations for CYP2D6 are not called and may affect your response to drugs metabolized by CYP2D6.
More questions?
Contact us at contact@gene2rx.com.