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Patient recruitment complete!

More than 3,000 patients have had genomic testing through Melbourne Genomics Health Alliance, with recruitment now complete for all our clinical projects.

The milestone was reached in November and represents culmination of the hard work and dedication of all our Alliance members – to create a genomics-ready healthcare system.

“Thanks to the hard work of all our members, more than 3,000 patients have been recruited for genomic testing. Congratulations to everyone on this amazing effort,” said Melbourne Genomics Executive Director, Associate Professor Clara Gaff.

“There is much to celebrate, but of course there is still much to do. While some participants already have their results, others still await the process of analysing and interpreting their genomic data in order to receive results.”

Patients are being tested for improved diagnosis of their inherited or ‘rare’ genetic condition, to better understand the cause of their cancer and inform treatment, while a third group had samples tested to track transmission of superbugs in hospitals. Melbourne Genomics is assessing the impact on patient care to identify when genomics brings benefit and when current care is best.

“We have exceeded what we set out to do,” Clara said. “We’re getting results, we’ve changed care for patients. We’re making a difference to people’s lives.”

Haematologist Dr Anthea Greenway (The Royal Children’s Hospital), from the Alliance’s Bone Marrow Failure clinical project, said many patients had benefited from genomic sequencing.

Dr Greenway said that in many cases, obtaining genetic confirmation for patients experiencing bone marrow failure enabled clinicians to move quickly to a new phase of care. For example, infection and fever could be aggressively managed, medications such as steroids could be trialled earlier, and ongoing blood transfusions could be commenced with better confidence of positive results.

“Historically, without genetic confirmation, uncertainty for patients and clinicians was significant, and the watching and waiting was often very frustrating. This project has really changed the path for many of our patients at a much earlier stage,” Dr Greenway said.