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Milestone: all patient reports issued

Melbourne Genomics is marking yet another significant milestone, with all clinical projects having finalised patient reports.

Genomic testing has been provided to more than 3,720 patients over the past five years, through Melbourne Genomics’ 16 clinical projects.

Melbourne Genomics General Manager, Dr Khay-Lin Teoh, commended Alliance members on their collaborative work in meeting reporting targets.

“This is a really significant milestone,” Khay-Lin said. “I thank everyone, across our 10 member organisations, involved in the massive task of undertaking this complex testing, and then interpreting, reporting and returning results.”

Genomic results can be highly significant to the care of individuals, resulting in more accurate diagnosis and more tailored care. And cumulatively, these results are building rigorous evidence for the impact of genomics on patient care, that Melbourne Genomics is reporting to the Victorian Government – for ongoing community benefit.

The milestone is also a testament to the hard work of all Alliance member laboratories involved in sequencing, analysing and curating genomic data. These include Victorian Clinical Genetics Services (VCGS), the genomic services arm of Murdoch Children’s Research Institute, the Peter Mac Haematology Laboratory and Australian Genome Research Facility (AGRF).

“It’s a massive effort sequencing and curating all the data for that many individuals, and it has created life-changing results for some patients,” said Sebastian Lunke, Head of Translational Genomics at VCGS.

Dr Piers Blombery, Lead of the Molecular Haematology Laboratory at Peter Mac, said his team performed comprehensive genomic evaluation including targeted panels and exomes, in addition to RNA-sequencing and digital droplet PCR, on 118 patients with bone marrow failure.

“This enabled actionable results to be returned to clinicians in real-time. In many cases, this genomic characterisation resulted in profound changes in patient management.”