A new genomics test developed and performed at Peter Mac is changing the way a rare bone marrow disorder, which can turn into an aggressive blood cancer, is diagnosed.

The Peter Mac PanHaem genetic test, developed by Dr Piers Blombery and his lab, is a gene panel test which can profile all types of blood cancers (including leukaemia, lymphoma and myeloma) as well as confirm a diagnosis of aplastic anaemia (AA).

This potentially life-threatening bone marrow disorder leads to anaemia, and low white blood cell and platelet counts. It affects four in every million people, putting them at risk of severe bleeding and infections.

“Aplastic anaemia also has the ability to transform into aggressive blood cancer such as acute leukaemia” says Peter Mac haematologist and lead of the molecular haematology laboratory Dr Piers Blombery.

“An accurate diagnosis is essential for these patients to get the right treatment - as other inherited genetic conditions and causes of bone marrow failure, which require very different treatments, can mimic a diagnosis of AA.

“What we’ve developed is a new way to diagnose AA using genetic sequencing, which can  distinguish it from other conditions and help us predict which patients may go on to transform into blood cancer.”

For patients, it is no more difficult than a standard blood test.

Difficulty diagnosing AA has posed a hurdle to developing more effective treatments, and many patients currently go on to require a bone marrow transplant.

The test will soon be used to identify more than 50 patients with AA to be enrolled in the DIAAMOND study. This clinical trial will test whether avatrombopag – a new drug used to treat other bone marrow disorders – is effective in AA.

Further cutting-edge genomics testing at Peter Mac will also be used to monitor AA patients as they take part in trial, to show early whether they are responding to treatment before their condition worsens.

The DIAAMOND study is made possible via a $1.75 million grant from the NHMRC’s Medical Research Future Fund, and will be run in conjunction with Professor Erica Wood at Monash University.

Sunday, 4 February, is World Cancer Day and its key messages highlight the importance of effective diagnosis: “Diagnosing cancer at its stages and seeking timely care can save lives”.