‘Next generation’ genetic tests | Leukaemia Foundation

‘Next generation’ genetic tests

The rapidly changing fields of precision medicine and genetic testing, where a therapy targets a particular genetic mutation, have been accelerated by Leukaemia Foundation funding. 

Australians with a range of myeloid neoplasms (including AML, MPN and CML) will benefit in late-2019 from the first of three ‘next generation’ genetic tests being developed by the SA Genomics Haematology Malignancies Node in Adelaide. 

Dr Anna Brown, Head, Molecular Oncology in the Department of Genetics and Molecular Pathology at SA Pathology, who is on the development team said each test would use a patient’s bone marrow to screen a disease-specific panel of gene mutations for diagnostic purposes and to track treatment. 

Test results would be available within a week and delivered to clinicians along with clinical guidelines for available precision medicines, to help clinicians choose the best therapy in the care of their blood cancer patients. 

The first accredited diagnostic test, the myeloid gene panel, would sequence 38 genes all at the same time. 

The second test, the myeloma gene panel, would be available in 2020 and will test: 

  • 15 genes, including the major prognostic indicator – deletion of TP53; 
  • mutations that predict response to standard of care immunomodulatory agents; and 
  • recently identified mutations for which targeted therapies are available. 

Development of the third cutting edge diagnostic test, for lymphoid malignancies, will be well advanced by the end of 2020.  

All three tests would be updated as genetic discoveries continue. 

The Leukaemia Foundation’s grant of $200,000 grant is for the two-year appointment of a medical scientist and a bioinformatician. 

“Having these dedicated staff members will accelerate our progress and take these tests from a research finding and concept, through development and the rigorous NATA* accreditation pipeline, to a standard of care diagnostic test,” said Dr Brown. 

* National Association of Testing Authorities (Australia) 

Last updated on April 18th, 2019

Developed by the Leukaemia Foundation in consultation with people living with a blood cancer, Leukaemia Foundation support staff, haematology nursing staff and/or Australian clinical haematologists. This content is provided for information purposes only and we urge you to always seek advice from a registered health care professional for diagnosis, treatment and answers to your medical questions, including the suitability of a particular therapy, service, product or treatment in your circumstances. The Leukaemia Foundation shall not bear any liability for any person relying on the materials contained on this website.

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