Improving Access to Pharmacogenomics

In Australia, it is estimated that around 250,000 hospital admissions a year result from medication toxicities – at a cost of over a billion dollars to the healthcare service. The Royal College of Pathologists of Australasia (RCPA) maintains that many of these could be prevented with pharmacogenetic testing, but recognizes that many barriers still exist to its wider implementation nationally. 

In response to the growing demand for pharmacogenomic testing, the RCPA issued recommendations to improve its accessibility. These include expanded public funding through the MBS, better education for patients and clinicians, and research to understand genetic variation in Australia, including First Nations people.

Here, Luke Hesson, co-chair of the RCPA’s Pharmacogenomics Advisory Group explains the reasoning behind the recommendations and what it is hoped they will achieve.

Why is pharmacogenomic testing important in terms of patient outcomes in Australia?
 

Pharmacogenomic testing plays a critical role in optimizing patient outcomes by allowing treatments to be personalized based on an individual’s genetic profile. This approach can significantly improve patient outcomes by enhancing medication efficacy and reducing the risk of adverse drug reactions. Currently, accessibility to this testing in Australia is limited, placing the nation several years behind other countries in implementing widespread pharmacogenomics.

What is the current status of accessibility to pharmacogenomic testing in Australia?
 

Access to pharmacogenomic testing remains limited in Australia. Most tests are not covered under the Medicare Benefits Schedule (MBS), which restricts availability, particularly for patients in rural and remote areas. To bridge this gap, the RCPA has submitted two applications to the Medical Services Advisory Committee (MSAC) for public funding for two pharmacogenomics tests, with decisions expected in 2025. 

One is for DPYD testing, which identifies patients with genetic variants that increase the risk of severe, potentially life-threatening reactions to fluoropyrimidine chemotherapy. The other is for human leukocyte antigen genotyping, which assesses sensitivity to carbamazepine in epilepsy patients.

What would the ideal situation be, according to the RCPA?
 

Ideally, all patients should have access to pharmacogenomic testing before receiving certain medications. This would allow for personalized medication plans that reduce adverse drug reactions, prevent hospitalizations, and ultimately improve patient safety and treatment outcomes.

What needs to change in order to get there?
 

Achieving broader access to pharmacogenomic testing requires expanded public funding through the MBS, greater education and awareness of the benefits of pharmacogenomics for both clinicians and patients, and targeted research to understand genetic variations across Australia’s diverse population.

What recommendations has the RCPA made towards improving accessibility?
 

On International Pathology Day, the RCPA calls for wider inclusion of pharmacogenomic testing on the MBS and highlights the need for improved education of pharmacogenomic testing benefits for clinicians and patients. The RCPA also stresses the importance of funding research to better understand genetic variation across the diverse Australian population.

Additionally, the RCPA has issued national guidelines on pharmacogenomic testing for 35 commonly used medications, providing clinicians with a resource to determine when testing may be beneficial.

What research is underway to assess the benefits of pharmacogenomic testing in Australia?
 

Several national trials are underway to assess the impact of pharmacogenomic-guided prescribing. This includes randomized controlled trials for the prescribing of antidepressants for mental health disorders, and several interventional trials.