Pharmacogenetic Tests
Reviewed
Also called: pharmacogenomics, pharmacogenomic testing
Pharmacogenetic testing looks for gene variants that affect how your body responds to certain medicines. It helps providers determine whether a medicine may be effective, what dose is needed, and whether you are at higher risk for serious side effects. The test is used for conditions such as high cholesterol, depression, blood clot prevention, HIV, multiple sclerosis, and certain cancers. Results describe gene changes but cannot diagnose any condition or predict disease risk.
Specimen: Blood, saliva, or cheek swab cells
Why this test may be ordered
- To find out whether a certain medicine could be effective for you.
- To determine how much of a medicine you need.
- To predict whether you will have a serious side effect from a medicine.
- When a medicine is not working or is causing serious side effects.
- Before treating conditions such as high cholesterol, depression, blood clot prevention, HIV, multiple sclerosis, or certain cancers.
Preparation and collection
For a saliva test: do not eat, drink, smoke, or chew gum for 30 minutes before the test. For a cheek swab: you may be asked to rinse your mouth first. No special preparation is needed for a blood test.
Blood draw, saliva collection, or cheek swab
There is very little risk to having a blood test; you may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly. There is no risk to having a saliva test or a cheek swab.
Understanding results
Your test results will describe any changes (variants) in the gene that was tested. These changes can show how certain medicines are likely to affect you, but they cannot tell you anything about your health condition. Your provider will use the results along with other information to recommend or adjust treatment.
- No variant detected: No gene variants were found that are known to affect your response to the tested medicine(s). Your provider may consider this information when prescribing. Limitation: Results are specific to the tested gene and medicine; they do not guarantee effectiveness or absence of side effects for all treatments. Next step: Your provider will use this result along with other information about your condition to recommend or adjust treatment.
- Variant detected: A gene variant was found that may affect how your body processes certain medicines. Your provider will use this information to adjust your treatment plan. Limitation: A variant does not mean you will definitely have a poor response or side effects; it indicates a higher likelihood that requires clinical correlation. Next step: Your provider will use this result along with other information about your condition to recommend or adjust treatment. If a medicine is not right for you, your provider will consider other options.
- Results describe gene variants that may affect medicine response but cannot diagnose any health condition or predict disease risk.
- At-home test kits may not be accurate and should not be used for treatment decisions without consulting a healthcare provider.
- Not all medicines or health conditions have pharmacogenetic tests available.
What to do next
Your provider will use the results along with other information about your condition to recommend or adjust treatment. If a medicine is not right for you, your provider will consider other options.
- What specific gene variants were tested and what do they mean for my current or planned medications?
- How will these results be combined with my medical history and other factors to guide my treatment?
- Are there any medicines I should avoid based on my results?