Following an application to the Medical Services Advisory Committee (MSAC) by the RCPA, genetic testing for myeloproliferative neoplasms (MPN) has been expanded on the Medicare Benefit Schedule (MBS). Dr. Piers Blombery is a clinical and laboratory haematologist and is the medical lead of a molecular haematology laboratory – he explains more about what this expansion means.

“Effective 1 July 2022, individuals with suspected classical MPNs are now able to access genetic testing which will have diagnostic, prognostic, and predictive clinical utility value, aligning with current WHO clinical guidelines. This is an expansion to current MBS-funded genetic testing for MPNs and includes the introduction of four new items, plus the expansion of an existing item, which will support the diagnosis of patients with certain ‘classical’ MPNs.

“The previous testing reimbursement was limited to the detection of mutations in two genes, JAK2 and MPL which only covers around 50% of patients with MPNs. We know that there are several other critically important genes and gene variants (specifically CALR) which are involved in these diseases. People with variants in these genes have different treatment options and health outcomes, so it is important for doctors to know which genetic variants a person has. The addition of these four items is valuable for doctors and patients to plan the best possible treatment and brings the reimbursement for MPNs in line with current diagnostic standards,” said Dr Blombery.

Myeloproliferative neoplasms (MPNs) are a rare group of blood cancers that start in the bone marrow, where blood cells are made. In MPN, the bone marrow makes too many of one or more types of blood cells (red blood cells, white blood cells and/or platelets), and these cells change the thickness of the blood. The three “classical” MPNs are polycythaemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF).

Approximately 1,000 Australians are diagnosed with an MPN every year. However, genetic testing for MPNs is carried out on many more patients because the clinical and laboratory features of other conditions can mimic MPNs. Symptoms depend on which type of MPN it is but can include fatigue, weakness, weight loss, enlarged spleen (splenomegaly), bruising and bleeding, night sweats, pain in bones or joints.

“The most important change for patients is that they can now access next generation sequencing (NGS) panel-based testing to diagnose or rule out an MPN. This means laboratories can perform one test, rather than three separate tests, which will mean a shorter diagnostic journey for many patients. In addition, we can get information about patient prognosis and refine treatment with any other mutations we find with NGS panel testing.”