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Developing state-of-the art molecular genetic testing in cancer diagnosis and monitoring

Anna Brown


Dr Anna Brown, SA Genomics Health Alliance (Adelaide).
Funding period: 2018-2020.

This project is kindly supported by the Michael Owens AML fund.

Genomic medicine has the potential to transform how we deliver healthcare today and into the future. It promises better patient outcomes and a more efficient health system through rapid diagnosis, early intervention, prevention and targeted therapy. However, the widespread use of genomics in clinical practice is not yet a reality for blood cancer patients.

The purpose of the SA Genomics Haematological malignancies node is to develop state-of-the art molecular genetic testing in cancer diagnosis and monitoring, enabling provision of precision medicine and improved patient outcomes.

This project seeks to develop:

  • A single test cancer specific diagnostic gene panels to detect:
    • myeloid malignancies i.e., MPN, MDS and primary and secondary AML
    • myeloma, providing sensitive detection of genetic mutations and deletions that predict response to treatment and identification of targeted therapies that may be applied.
  • Personalised minimal residual disease monitoring using digital droplet PCR technology.
  • Liquid biopsies for non-invasive screening and monitoring.
  • A single test gene panel to detect all clinically relevant gene fusions. Gene fusions are responsible for many blood cancers (MPN, ALL, AML, CLL, CML) and are the basis of many of the precision medicine treatments (eg Imatinib). Many gene fusions are not detectable by standard cytogenetic approaches but can be rapidly identified by RNA sequencing.
  • In collaboration with the South Australian Cancer Research Biobank, establish a cohort of relevant patient tumour samples with matched blood samples for NATA accreditation of the test.