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Genomics can provide more accurate diagnosis for patients with bone marrow failure

Doctors hands with tablet devices, in discussion

A study recently published in Haematologica funded by Melbourne Genomics has found that genomic characterisation – targeted sequencing and whole exome sequencing – resulted in a change of diagnosis for more than a quarter of patients with bone marrow failure syndromes (26%, 30 of 115), and had profound implications for their care.

Publication authors Dr Piers Blombery, Professor David Ritchie and Dr Lucy Fox investigated the impact of genomic testing on accurate diagnosis of patients with BMF. Bone marrow failure syndromes are a diverse group of potentially life-threatening diseases that can be either inherited or acquired. Accurate diagnosis is critical to optimal patient care, as inherited and acquired BMF each have completely different mechanisms and respond to different treatments.

For example, three patients in the study previously diagnosed with acquired BMF immediately ceased expensive treatments that carry significant risks of side-effects and would have proven ineffective for their inherited disease.

Of the 115 patients tested in the study, genomics identified gene changes in more than half (54%, 62 of 115). Such changes can inform response to treatment, risk of adverse outcomes and flag the transformation of BMF to acute leukaemia. Critically, these changes would not have been found through usual testing.

Genomic testing also clarified diagnosis for more than half of patients with an uncertain clinical diagnosis (56%, 25 of 45), allowing patients to commence the right therapy at the right time for their condition.

Study leaders concluded that genomic characterisation can improve diagnostic categorisation of patients with BMF, and should be routinely performed in this group of patients. Having an accurate diagnosis changed care for patients and their families, and provided a path to potentially life-saving allogeneic stem cell transplantation, as well as disease-specific treatments and identification of at-risk relatives.

The BMF study was a multidisciplinary collaboration between The Royal Melbourne Hospital, the Peter MacCallum Cancer Centre, The Royal Children’s Hospital and Austin Health, under the auspices of Melbourne Genomics Health Alliance.

Bone marrow failure is one of 16 areas of health investigated by Melbourne Genomics, and patients in this study were among more than 3,800 adults and children who have received genomic testing since 2014. 

The full list of Melbourne Genomics publications is available HERE.