Monash Health introduces new genetic testing for blood cancer patients

A new genetic test is available at Monash Health to provide better diagnosis for patients with suspected blood cancer.

Looking for genetic changes

The Genetics and Molecular Pathology team at Monash Health led by Dr Paul Yeh and Dr Ravikiran Vedururu have successfully validated and implemented a test to look for genetic changes or “mutations” in patients with suspected blood cancer.

The test will look for up to 39 genes that are frequently associated with blood cancers such as polycythemia vera, essential thrombocytosis, myelofibrosis, myelodysplasia and acute leukaemia – collectively termed “myeloid neoplasms”.

“There are many genetic mutations that can be seen in patients with myeloid blood cancers. Knowing what these are in a timely manner is critical to getting the correct diagnosis so they can start the best treatment. This test will dramatically improve outcomes for our patients.”

Dr Paul Yeh, haematologist and clinical lead for molecular haematology

Saving time to save lives

The assay uses a state-of-the-art technique called “next generation sequencing” which allows for thousands of individual genetic tests to be done simultaneously. This improves the efficiency and accuracy of test results.

The assay has already greatly impacted the care of blood cancer patients for the better.

“We have one instance where testing would have previously taken months for a result. With our new test, we were able to provide a diagnosis to the clinician within 2 weeks.” says Dr Ravikiran Vedururu, lead technical scientist in the Genetics and Molecular Pathology Laboratory at Monash Health.

The new test is accredited by the National Association of Testing Authorities (NATA), the highest level of accreditation for a diagnostic test in Australia.

Due to the success of this assay, work to test for more genes in more blood cancer types, including lymphoma and myeloma, has already begun. The GMP lab is also developing an RNA fusion panel to look for complex genetic changes in blood cancers.