Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1) Test

What is pharmacogenomics?

Pharmacogenomics, also called pharmacogenetics, is the study of how your genes affect your body’s response to medicines. The word pharmacogenomics is made up of the words pharmacology and genomics. Pharmacology is the study of the uses and effects of medicines. Genomics is knowing what genes are and how they work. Genes carry genetic information that you inherit (get) from your parents. Genes determine things about you, like your eye color or blood type. Your genes can also influence how your body will react to some medications.

What is pharmacogenomic testing?

Pharmacogenomic testing is when your genes are studied to find out if a medicine is right for you. It can help see how your body may respond to one or more medications. But it cannot tell you how you will respond to all medications.

A pharmacogenomic test can help figure out:

• If you could have serious side effects from medicines.
• If a medicine will work for you.
• The best dose of a medicine.

How is it done?

Pharmacogenomic tests are often blood tests, but can also be done using cheek swabs or saliva samples. If a blood sample is being used, a small amount of blood will be removed from a vein through a needle placed through your skin. The blood goes from the needle into a container like a tube. The blood is sent to a lab and it will take about 7-10 days to get results. Your provider will talk to you about your results and they will be part of your medical records. After the test is done, your blood sample will be thrown out and not used anymore. 

What is a uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) test?

A UGT1A1 test is a type of pharmacogenomic test. It checks for kinds of a protein called uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). Some people have kinds of the UGT1A1 gene that make them at higher risk for side effects from certain medications that are broken down by this protein. These medications include irinotecan (Camptosaur®, Onivyde®) and sacituzumab govitecan-hziy (Trodelvy®), belinostat (Beleodaq®), binimetinib (Mektovi®), imlunestrant (Inluriyo™), nilotinib (Tasigna®), pazopanib (votrient®).

This test will be ordered if your provider wants to know if you have the kind of the UGT1A1 gene linked to a higher risk of side effects from these medications. It is helpful to know this when creating your treatment plan now or in the future. You will have this test done once since the genes inherited from your parents rarely change.

What if I have a kind of the UGT1A1 gene linked to a higher risk of side effects?

This does not mean you cannot get these medications.  Your provider will use the test results to decide which chemotherapy is best to treat your cancer. Your provider may choose to lower your dose, or your provider may treat your cancer with other chemotherapy.

If you do have a kind of the UGT1A1 gene, it is important to share this information with family members. Biological parents, brothers, sisters, and children may have the same kind of the UGT1A1 gene. If you are finding it hard to share this information with your family, you can talk to your provider about helpful resources.

Does the UGT1A1 test have any limitations?

The test only looks for the most common kinds of the UGT1A1 gene. Some people without these kinds of the UGT1A1 gene can still be sensitive to the chemotherapy because they have a rare version of the gene that this test does not screen for. There are other non-genetic factors, like age, that may also increase your risk of side effects. No matter your results, your provider will closely watch how you are responding to chemotherapy.

Will insurance pay for the UGT1A1 test?

Healthcare insurance companies have different types of coverage policies. Many policies cover genetic tests that are used to guide medical management. It is always best to talk to someone from your insurance company to help figure out if this testing is covered.