A pilot project in Queensland hospitals has found genomic testing has improved the accuracy of diagnosis and treatment for patients with myeloid blood cancers, which affects the blood and bone marrow.

An initiative from Queensland Health’s Queensland Genomics program, the project offers a more personalised diagnosis based on the individual patient, and the unique genetic makeup of their cancer.

Dr Cameron Curley, Director of Haematology and Bone Marrow Transplantation at the Royal Brisbane and Women’s Hospital, said genetic information is key to selecting the best possible treatment for patients with myeloid cancer.

“In this pilot we have sequenced more than 250 patients who have been diagnosed with myeloid cancer, which is a common blood cancer affecting more than 3000 people in Australia every year,” he said.

“Data gathered through genomic sequencing has helped us understand how the cancer may behave in that patient, and how to best treat them.

“Myeloid cancers are difficult to treat, and a bone marrow transplant can cure some patients’ cancer. The challenge for specialists is working out which patients will benefit from this intensive procedure.

“Using genomic sequencing in addition to standard testing we found useful genomic variants in 70 per cent of patients. For 11 per cent of patients this information resulted in a change in their treatment plan.

“For example, we found some patients would benefit from a change to the timing for their bone marrow transplant.

“For others it meant they went on to receive a bone marrow transplant, whereas prior to genomic sequencing it was not indicated as necessary.

“For many patients, understanding their diagnosis and prognosis is almost as important as any therapeutic outcome. This pilot project provides many patients with accurate information on their diagnosis and what is likely to happen to them.”

Standard practice for bone marrow transplant is to use the bone marrow or blood stem cells of a sibling or other family member or specifically selected, matched unrelated donor. Using a family member who has been identified as a match increases the chances of the donor cells growing in the patient and the transplant being successful.

“For 6 per cent of patients involved in the pilot, genomic sequencing identified possible hereditary links to myeloid cancer,” Dr Curley said.

“This information was particularly useful in defining the optimal bone marrow donor for the patient. It also provided families with information about their own risk, and in some cases, families were referred to a genetic counselling service for further support and information.

“Genomic data also identified some harmful gene mutations that the team had not previously been able to define. Acting quickly to treat patients in these circumstances has significant potential to prevent unnecessary progression of the disease and lead to better outcomes for patients.

“Over the next three to five years we will assess outcomes for patients’ post-transplant, as well as longer term outcomes for non-transplant patients.”

Leveraging off the extensive work undertaken to get the Myeloid Genomics Project piloted in Queensland, Queensland Genomics is piloting a project through Queensland Children’s Hospital to provide personalised treatments for childhood leukaemia.