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), the Pharmacogenomic (PGx) Multi panel 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.
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.
The PGx Multi test analyses variations in genes that have been shown to influence drug response and metabolism for over 80 medications used commonly in clinical practice and includes all genes present in PGx MH and PGx Pain. Given many patients are on multiple medications, you may find the PGx Multi report most useful as it covers a broad range of medication classes. The report provides medication-specific prescribing considerations to help improve the safety and efficacy of medications and reduce the risk of unwanted side effects.
| 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, OPRM1, ABCG2 and CYPB26 |
| Method | PCR Genotyping |
| Turn around time | 2 weeks from sample receipt |
| Medicare Eligibility | No |
| Price | $197 |
| Test Request Form | Standard pathology request form |
| Collection Requirements | 6mL EDTA tube |
| Special Instructions | Please specify the medications of interest on the request form |
| Links | RCPA Guidance |
| 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 |
| Price | If not MBS eligible, please contact 1800 822 999 for pricing details |
| Test Request Form | Standard pathology request form |
| Collection Requirements | 6mL EDTA Tube |
| Special Instructions | None |
| 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 |
| Price | Please contact 1800 822 999 for pricing details |
| Test Request Form | Standard pathology request form |
| Collection Requirements | 6mL EDTA tube |
| Special Instructions | None |
PGx Panel FAQs
Please view this video to interpreting the PGx Multi reports.
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 Multi is a 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 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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