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The inaugural blood cancer genomics symposium was held by the Peter MacCallum Cancer Centre, Christine and Bruce Wilson Centre for Lymphoma Genomics and Snowdome Foundation to provide a clinical and laboratory update on the role of genomic testing in the diagnosis and treatment of blood cancers. The Vision Super-Snowdome Foundation Fellow, Dr Piers Blombery hosted the event.

Piers is a clinical and laboratory haematologist and the medical lead of the Molecular Haematology laboratory at the Peter MacCallum Cancer Centre. Piers’ group runs a genomic testing laboratory for blood cancers.  The group has developed and validated a world first PanHaem panel that detects mutations in patients with blood cancer.  The results of the test are used to identify a variety of things such as, how resistant the tumour is to treatment, how aggressive the tumour will be or even how passive the tumour may be.  This information is critical in determining the best path of treatment for the patient.  “Nothing effects treatment outcomes more than having the correct diagnosis”.

For example, research has shown if the TP53 gene is mutated or there is an unmutated immunoglobulin heavy chain, the standard chemotherapy protocol that is used to treat certain blood cancers such as Chronic Lymphocytic Leukaemia is significantly less effective and may even make the disease worse.  Researchers, therefore, use next-generation sequencing to provide the treating clinician with insight into the best treatment for each patient.  The information also allows for eligible patients to be entered into clinical trials to access new novel agents that may be more effective at treating their specific tumour genome make-up.

Next-generation sequencing has now identified a number of genes with clinical utility. For example, there are genes that provide a diagnostic and prognostic role in Lymphomas (CLL), Multiple Myeloma and Acute Myeloid Leukaemia (AML).  Genes have also been identified to assist in the diagnosis of T-cell lymphoma, myeloproliferative neoplasms and myelodyplastic syndromes. The researcher can simultaneously test for multiple mutations at the same time to provide prognostic information allowing for the detection of targetable mutations and potential markers for disease monitoring.  As such, next-generation sequencing provides efficiencies in diagnosis and therefore treatment that provides the clinician with accurate information and ultimately benefits the patient.

Victorians are fortunate as genomic testing is currently available at the Christine and Bruce Wilson Centre for Lymphoma Genomics thanks to generous philanthropic funding by the Wilson family as well as the support of the Snowdome Foundation.  However, more donations are needed in the future to continue the amazing work that is being conducted at the Wilson Centre.

 

 

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