1684 – Genetic testing for variants associated with haematological malignancies

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type New application
  • Pre-PASC consultation Closed
  • Pre-MSAC consultation Closed
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

The most widely used technique for the molecular diagnosis of haematological malignancies is targeted next generation sequencing (NGS) panels (lymphoid or myeloid) focusing on specific genes as described by the World Health Organisation (WHO). The results of these genomic tests are then interpreted with the rest of the pathological data of the patient to categorise the patient as per WHO 2017 diagnostic criteria.

Type: Investigative technology

Medical condition this application addresses

Haematological malignancies are the result of the clonal expansion of cells throughout the blood forming organs. They are a heterogeneous, geneiag tically diverse group of disorders that originate from cells of the bone marrow and lymphatic system, and are categorised based on lineage as either myeloid or lymphoid neoplasms.

The majority of human haematologic malignancies are caused by the clonal expansion of a single cell that has acquired a somatic variant in one allele of a gene responsible for cellular maturation and division. Haematologic malignancy is a relatively common group of disorders, constituting approximately nine per cent of all cancer cases diagnosed annually.

Consultation survey and deadlines

  • PASC consultation: Closed
  • MSAC consultation: Closed Friday 7 October 2022

Meetings to consider this application

  • PASC meeting: 9–10 December 2021
  • ESC meeting: 6–7 October 2022
  • MSAC meeting: 24–25 November 2022