MSAC backs funding of genomic testing in endometrial cancer

The Royal College of Pathologists of Australasia (RCPA) has secured a positive recommendation from the Medical Services Advisory Committee (MSAC) for public funding of POLE genotyping in endometrial cancer. This is a decision that will significantly improve access to pathology testing with direct implications for diagnosis, treatment selection and patient outcomes.

Endometrial cancers carrying pathogenic mutations in the exonuclease domain of the POLE gene generally have an excellent prognosis and a very low risk of recurrence. For patients, the presence of a POLE mutation can therefore support the safe de-escalation of adjuvant treatment without compromising clinical outcomes, reducing exposure to significant and potentially long-term treatment sequelae.

While POLE genotyping is already the standard of care in Australia, most patients have historically been required to pay for the test out-of-pocket. MSAC has agreed to fund the test at $400, based on advice received from Genomics Australia (GA), below the $550 fee recommended in the RCPA application.

The overall financial impact on government is acceptable, with likely cost offsets to the Pharmaceutical Benefits Scheme (PBS) and Medicare Benefits Scheme (MBS) arising from treatment de-escalation. These savings are expected to result from the avoidance of chemotherapy and reduced use of radiotherapy. Importantly, all patients, regardless of disease stage, will have access to the test under the MBS.

However, Pathology Technology Australia (PTA) has raised broader concerns about the way genomic testing is assessed and funded. PTA notes that approaching MSAC through a “piecemeal process” involving individual gene targets linked to specific disease states is not an ideal mechanism for transitioning to timely and equitable genomic-led healthcare.

The assessment process takes an average of two to three years for each application, and in some cases considerably longer. PTA also points to the inequitable prioritisation of some targets over others, depending on which sponsor has the time and resources to develop and submit an application. There is also a risk that testing methods and genomic technologies have evolved substantially beyond the scope of the original application by the time funding approval is granted.

“It is time to develop a fit-for-purpose model to effectively triage, assess, and fund the broad suite of multiomic tests available today, and provide a transparent and timely path for future,” the organisation stated.

The Royal Australian and New Zealand College of Radiologists (RANZCR) has separately recommended a protocol-driven approach to the initiation of POLE testing and has expressed concerns about limited resourcing, particularly in rural and regional areas, which could contribute to extended turnaround times for test results.

The MSAC funding recommendation comes as endometrial cancer incidence continues to rise. It is the most common type of uterine cancer, with an estimated 3,153 cases diagnosed in 2025 and a five-year survival rate of almost 85%. However, only an estimated 7%-10% of patients will have a POLE variant, making accurate identification of this subgroup particularly important for treatment planning and risk stratification.

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