Application 1125 Molecular Testing for the Diagnosis of Myeloproliferative Disorders

Reference No.

1125

MSAC agreed that, for a proportion of patients with suspected PV or ET, but not PMF, molecular testing may remove the need for and cost of a bone marrow biopsy and may improve diagnostic certainty.

On this basis MSAC supported public funding of molecular testing for polycythaemia vera and essential thrombocythaemia. As the number and sequence of actual molecular tests may vary, the MBS item descriptor(s) for molecular testing of a patient for either of these two conditions should reflect the intention of confirming the clinical diagnosis with the most efficient use of suitable molecular tests, and that a positive molecular test should obviate the need for further testing for the clinical diagnosis once a definitive molecular diagnosis has been established.

MSAC did not support public funding of molecular testing for primary myelofibrosis.

Part B

Based on the clinical need in a small group of patients with serious disease, and the likely clinical effectiveness in terms of determining sensitivity to imatinib treatment, MSAC supports public funding of molecular testing to assist with the diagnosis and management of SMCD, HES and CEL by molecular testing for the FIPIL1-PDGFRA fusion gene.

MSAC does not support public funding of the molecular tests for KIT mutations as the KIT mutation and the FIP1L1-PDGFRA rearrangement are mutually exclusive.