News & Trends - MedTech & Diagnostics
Australia lags behind in funding pharmacogenomic testing: Pathologists urge action

Diagnostics & MedTech News: The call for urgent action to improve access to pharmacogenomic testing across Australia comes as demand for these critical diagnostic tools continues to grow.
In a new set of recommendations, the Royal College of Pathologists of Australasia (RCPA) advocates for expanded public funding through the Medicare Benefits Schedule (MBS), better education for both patients and clinicians, and research to understand genetic variations in the Australian population, including First Nations communities.
Despite its potential, over 85% of Australians are unaware of pharmacogenomic testing, with more than 95% carrying genetic variations that can influence their response to medicines.
Professor Luke Hesson, Co-Chair of the RCPA’s Pharmacogenomic Advisory Committee, stressed the need for broader access, citing the rapid growth in testing uptake.
“Our laboratory has seen a yearly increase of over 100% in dihydropyrimidine dehydrogenase (DPYD) gene testing over the past five years, with a notable 136% increase between 2022 and 2023.
“This is just one example of the growing adoption of pharmacogenomic testing. Despite this, pharmacogenomic testing is still not widely covered under the MBS, disproportionately affecting patients in rural and remote areas,” said Professor Hesson.
DPYD gene testing plays a crucial role in improving treatment outcomes for patients undergoing fluoropyrimidine (FP) chemotherapy, commonly used to treat solid tumours. This genetic test identifies individuals at higher risk of severe, potentially life-threatening reactions to FP chemotherapy.
More than 17,000 Australians diagnosed with solid organ cancers each year require FP chemotherapy, with approximately 30% developing grade 3-5 toxicity. DPYD genotyping could help avoid serious toxicity in up to 8% of these patients.
Dr Sophie Stocker, Co-Chair of the RCPA’s Pharmacogenomic Advisory Committee, pointed out that Australia is lagging behind other countries in pharmacogenomic implementation.
“Each year, an estimated 250,000 hospital admissions in Australia are related to medication issues, costing the healthcare system $1.4 billion. Two-thirds of these are potentially preventable, highlighting the urgent need for expanded access to pharmacogenomic testing,” said Dr Stocker.
In response, the RCPA has submitted two applications to the Medical Services Advisory Committee (MSAC) for public funding for DPYD and human leukocyte antigen (HLA) genotyping, which assesses sensitivity to carbamazepine in epilepsy patients. Decisions on these applications are expected in 2025.
The RCPA has also released the first national guidelines for pharmacogenomic testing for 35 commonly prescribed medications. Funded by Australian Genomics and conducted in partnership with the Australasian Society of Clinical and Experimental Pharmacologists and Toxicologists (ASCEPT) and the Pharmaceutical Society of Australia (PSA), the project marks a significant milestone in precision medicine and patient care.
“We want to get to the point where all patients receive pharmacogenomic testing before treatment, significantly reducing hospitalisations and deaths from adverse drug reactions,” said Dr Stocker.
“Our new guidelines allow clinicians to check if pharmacogenomic testing is recommended before prescribing certain drugs, and they can also be used after a drug causes side effects or fails to provide the expected therapeutic response. This is just the start, and we hope to build on this momentum with more MSAC applications and further pharmacogenomic guidelines.”
A key priority for the RCPA is ensuring pharmacogenomic tests are suitable for Australia’s diverse population. As one of the world’s most multicultural countries, Australia lacks sufficient data on how these tests perform across all communities, making further research essential.
“We need to understand the clinical utility of pharmacogenomic testing for the entire Australian population,” Dr Stocker added.
In addition to the RCPA’s initiatives, several national trials are underway to evaluate the impact of pharmacogenomic-guided prescribing. One such trial, launched in October 2024, will assess upfront DPYD-guided chemotherapy dosing. The trial aims to recruit 5,000 participants by the end of 2025.
Dr Cassandra White, a medical oncologist and lead on the trial, said the study will provide crucial insights into patient safety, cost-effectiveness, and cancer outcomes.
“We aim to demonstrate that nationwide pharmacogenetic screening, specifically DPYD genotyping, could prevent hundreds of hospitalisations, improving patient experience and reducing healthcare costs,” said Dr White.
“The study will also explore the feasibility of screening for UGT1A1, which predicts toxicity to irinotecan, another chemotherapy drug. The future of cancer treatment lies in personalised care, and the time to act is now.”
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