22 December 2020

Researcher to test value of tailored gene testing

A Perth researcher is hoping to make a case for the upfront use of advanced DNA testing in patients with two of the most common forms of leukaemia.

Sir Charles Gairdner Hospital haematologist Dr Xuan Ni Tan is one of five cancer researchers awarded a State Government fellowship in the latest round of the WA Cancer and Palliative Care Network Fellowship program.

She will use her fellowship to determine whether the benefits of more targeted treatment can justify the costs of using advanced gene-sequencing technology to screen patients before they start treatment.

Dr Tan’s retrospective study will investigate the extent to which such sequencing would have altered the course – and cost – of treatment of 150 WA patients with Acute Myeloid Leukaemia (AML) and Chronic Lymphocytic Leukaemia (CLL).

These two cancers are the most prevalent forms of leukaemia in adults, affecting about 2600 Australians annually.

Patients involved in Dr Tan’s research have already completed their treatment which they were given in accordance with contemporary treatment guidelines.

Treatment for AML typically begins with one or two rounds of intense chemotherapy (designed to achieve remission by killing as many abnormal white blood cells as possible) followed by a further four rounds to consolidate the gains of their earlier therapy.

Genetic testing currently offered to these patients flags a proportion as high-risk, requiring a bone marrow transplant for best survival. But it is estimated that up to 25 per cent of high-risk patients are missed.

These undetected patients face not only delays in accessing alternative treatments but exposure to potentially harmful therapy.

Dr Tan will see how the use of massively parallel sequencing – where multiple genes are sequenced simultaneously – would have influenced the treatments of her patient cohort (100 AML and 50 CLL patients) and the difference it would have made to the overall costs of their treatment.

Although the technique is more expensive than the genetic testing currently offered, Dr Tan will see if the extra cost would have been offset by the savings made from patients getting more suitable treatment earlier.

Dr Tan’s study is focusing on AML and CLL because of their prevalence among adults and because of the ability of advanced sequencing to detect mutations in these cancers that would change treatment selection.

Evidence of significant patient benefit without substantial additional costs would provide a case for offering the advanced sequencing upfront to all AML and CLL patients.

While 75 per cent of AML patients achieve remission from chemotherapy, most will relapse within three years. For some CLL patients, treatment will not only be ineffective but could also put them at risk of life-threatening infections and secondary cancers.

The Department of Health’s Assistant Director General (Clinical Excellence) Dr James Williamson said Dr Tan’s research highlighted the opportunities arising from advances in human genomics that were enabling doctors to provide treatments tailored to patients’ individual genetics and the genetics of their cancer.

“What is important about this project is that it has the potential to prevent cancer patients being subjected to unnecessary, ineffective and potentially harmful treatments while hastening their access to alternative options,” he said.

The full list of fellowship recipients is 

  • Dr Aesha Gandhi, Edith Cowan University – Autoantibodies as Biomarkers of Onset of Immune-related Adverse Events in Cutaneous Melanoma Patients.
  • Dr Brendon Lau – South Metropolitan Health Service (SMHS) Fiona Stanley Hospital – TeleChemotherapy in country Western Australia: Acceptability, out-of-pocket costs, and outcomes evaluation.
  • Dr Shao Yang Tneh – Royal Perth Hospital – Disease Monitoring using plasma cell-free DNA in Acute Myeloid Leukaemia and Myelodysplastic Syndrome.
  • Dr Stephanie Lam – Fiona Stanley Hospital – Precision Diagnostics for del(17p) in Multiple Myeloma.
  • Dr Xuan Ni Tan – Sir Charles Gairdner Hospital, Department of Haematology – Next Generation Sequencing in Acute Myeloid Leukaemia and Chronic Lymphocytic Leukaemia: A Health Economic Analysis.

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