Pharmacogenomic Testing
Pharmacogenomics is the study of genetic variations that influence medication response.
Pharmacogenomics is the study of the role that DNA variants play in drug efficacy. The DNA variants may either be inherited, and part of an individual’s inherited genetic make-up, or may be acquired in a person’s tumour (non-heritable) and can be used to predict drug responses or the likelihood of adverse drug reactions.
In addition to specific tests available for the enzymes thiopurine S-methyltransferase (TPMT) and glucuronyltransferase (UGT1A1), there are three Pharmacogenomic (PGx) panel tests available. These cover enzymes involved in breaking down medications used in the mental health area and the pain area as well as a wide range of other medications.
Pharmacogenomics (PGx)
Medication Tests
$147
PGx Mental Health
Covers medications used for mental health conditions including antidepressants and antipsychotics.
Results available within 10-12 business days.
$147
PGx Pain
Covers medications used for chronic pain, such as opioid analgesics and NSAIDs.
Results available within 10-12 business days.
$197
PGx Multi
Incorporates all medications covered in the Mental Health and Pain panels plus some additional pharmaceuticals.
Results available within 10-12 business days.
In the case of cancer treatment, the mutations acquired in a person’s tumour (non-heritable) may make the tumour more sensitive or resistant to treatment targeted gene, or gene pathway, specific treatment.
Providing the patient with the right dose of the right medicine is the aim of personalised medicine. Variation in an individual’s genetic makeup compared to others in the general population can affect their response to medications because some of these variations affect drug metabolic pathways. In some cases, this may result in sub-optimal therapeutic levels, or conversely, toxic adverse effects.
Please view this video to interpreting the PGx Multi, PGx Mental Health or PGx Pain reports
The PGx Mental Health (MH) test analyses a specific group of genes that are known to be involved in drug metabolism for a broad range of medications used in the treatment of mental health conditions. The report provides detailed interpretation and prescribing recommendations for many antidepressants, antipsychotics, ADHD medications and some anxiolytics, all of which are listed in the Pharmacogenomics Medication List, downloadable at the bottom of the page.
Test Name | PGx Mental Health (MH) |
---|---|
Clinical Indication | To determine optimal medication and dosage for medications commonly used in mental health settings (e.g. SSRIs) |
Gene(s) | CYP2D6*2, *3, *4, *5, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *36, *41; CYP2C19*2, *3, *17; CYP2C9*2, *3; CYP1A2*1F and CYP3A4*22. |
Method | PCR Genotyping |
Turn around time | 2 weeks from sample receipt |
Medicare Eligibility | No |
Sample Type | Blood |
Collection Type | 10mL EDTA tube |
Special Instructions | Please state PGx MH on the request form |
Test Name | PGx Multi |
---|---|
Clinical Indication | To determine optimal medication and dosage for multiple pharmaceutical agents |
Gene(s) | CYP2D6*2, *3, *4, *5, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *36, *41; CYP2C19*2, *3, *17; CYP2C9*2, *3; CYP1A2*1F; CYP3A4*22; CYP3A5*3; SLCOB1, VKORC1 and OPRM1 |
Method | PCR Genotyping |
Turn around time | 2 weeks from sample receipt |
Medicare Eligibility | No |
Sample Type | Blood |
Collection Type | 10mL EDTA tube |
Special Instructions | Please specify PGx Multi on the request form |
The PGx Pain test analyses a specific group of genes that are known to affect the drug response to several analgesics used to treat different types of pain. The report provides detailed interpretation and prescribing recommendations for several opioid analgesics, non-steroidal anti-inflammatory drugs (NSAIDs) and some medications used for neuropathic pain, all of which are listed in the Pharmacogenomics Medication List downloadable at the bottom of the page.
Test Name | PGx Pain |
---|---|
Clinical Indication | To determine optimal medication and dosage of pain medications |
Gene(s) | CYP2D6*2, *3, *4, *5, *6, *7, *8, *9, *10, *14A, *14B, *17, *29, *36, *41; CYP2C19*2, *3, *17; CYP2C9*2, *3; CYP1A2*1F and OPRM1 |
Method | PCR Genotyping |
Turn around time | 2 weeks from sample receipt |
Medicare Eligibility | No |
Sample Type | Blood |
Collection Type | 10mL EDTA tube |
Special Instructions | Please state PGx Pain on the request form |
Thiopurine drugs are used as both immunosuppressive and chemotherapeutic agents. Inherited genetic variants that result in reduced activity of the enzyme thiopurine S-methyltransferase (TPMT) are associated with cytoxicity and particularly with bone marrow failure. Multiple variants have been associated with decreased TPMT activity but 4 specific variant alleles (TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C), account for the majority (>95%) of low and intermediate activity cases. Patients with one variant allele have intermediate activity whereas those with two variants have low or no activity.
TPMT genetic testing can predict thiopurine drug toxicity in a variety of conditions, including renal transplantation, rheumatoid disease, inflammatory bowel disease and lymphoblastic leukaemia. Genetic variants have also been implicated in ototoxicity associated with cisplatin treatment in children.
Test Name | TPMT genotype |
---|---|
Clinical Indication | 1. To identify risk for severe bone marrow suppression with use of thiopurine drugs prior to treatment commencement, or 2. To evaluate adverse reaction to thiopurine drugs in patients already being treated with these agents. |
Gene(s) | TPMT |
Method | PCR Genotyping |
Turn around time | 7 days |
Medicare Eligibility | 73327 |
Sample Type | Blood |
Collection Type | 10mL EDTA Tube |
Special Instructions | None |
Gilbert’s syndrome is characterised by jaundice due to increased levels of unconjugated plasma bilirubin. Men are at higher risk than females and usually present post-puberty. In people of northern European ancestry, cases of Gilbert’s syndrome are often associated with inheriting two copies (one from each parent) of a specific mutation in the promoter region of the gene encoding the enzyme glucuronyltransferase (UGT1A1), designated UGT1A1*28 allele. UGT1A1 is a liver enzyme important for clearing conjugated bilirubin from the circulation. In general, other than the low grade elevated bilirubin levels, people with Gilbert’s syndrome exhibit no other signs or symptoms. In some cases, toxicity therapeutic agents, such as anticancer agent irinotecan and anti-viral protease inhibitor Indinivar, may occur in patients with Gilbert’s syndrome.
Testing for Gilbert’s syndrome may assist in differentiating the cause of isolated elevated bilirubin levels in those patients with normal test results for FBC, reticulocytes, haptoglobin and liver enzymes.
Test Name | Gilbert’s Syndrome Genotyping |
---|---|
Clinical Indication | 1. For the investigation of hyperbilirubinaemia (jaundice) 2. To determine greater susceptibility to irinotecan induced gastrointestinal and bone marrow toxicity |
Gene(s) | UGT1A1 (UDP-glucuronosyltransferase Family 1 Member A1) |
Method | PCR Genotyping |
Turn around time | 28 days |
Medicare Eligibility | No |
Sample Type | Blood |
Collection Type | 10mL EDTA tube |
Special Instructions | None |
PGx Panel FAQs
Test results for the PGx tests through Genomic Diagnostics and performed by myDNA are returned in the form of a summary report through the normal delivery process of your local associated pathology laboratory. A more detailed pdf report with additional information around prescribing and future options is available through an internet Doctor portal, which requires registration.
To register for the doctor portal, please firstly contact your local liaison officer or our Customer Care Team on 1800 822 999. You will need to provide them with an email address. They will register you and an email will be sent to your nominated address with a link allowing you to activate the portal. This link takes you to a login screen where you will need to nominate a password. Each location that you practice at will require a specific log in although the email addresses can be the same.
Once you are set up to login to the results portal, you can access it quickly and easily by:
- bookmarking it on your web browser
- clicking this link
- following the link near the top of the patient summary report
The PGx MH, Pain and Multi are all non-Medicare rebateable tests. Please ask your patients to pay via the shopping cart on the genomic diagnostic website or or call 1800 822 999 before having their bloods collected.
Simply request PGx MH, PGx Pain or PGx Multi on a standard request form. It is important to list all medications the patient is currently taking, so an accurate report can be returned.
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