Reducing genomic testing time for critically ill babies

Wednesday, 28 February, 2018


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In a move to reduce the turnaround time of genomic testing from months to days, the Murdoch Children’s Research Institute’s (MCRI) Victorian Clinical Genetics Services (VCGS) has installed a DRAGEN Bio-IT Platform from Edico Genome.

VCGS is a specialist in childhood and adult genetics services, offering a comprehensive range of genetic testing and clinical support services to thousands of individuals and families throughout Australia. Together, VCGS and MCRI are said to have the largest collective genetics expertise in the Southern Hemisphere, offering fully integrated research, diagnostics and clinical genetics services.

“We are a collective of scientists, doctors, genetic counsellors, technicians, researchers and other health practitioners jointly dedicated to delivering world-class clinical genetics services and testing throughout Australia,” said Dr Sebastian Lunke, head of the Translational Genomics Unit at VCGS.

VCGS installed the Bio-IT platform in January, following a six-month-long validation period, as part of the Acute Care Genomics project, which is analysing genomic data from 250 babies and children in neonatal intensive care units (NICUs) and paediatric intensive care units (PICUs) across Australia. Leveraging field-programmable gate array (FPGA) technology, DRAGEN rapidly accelerates analysis of next-generation sequencing (NGS) data, completing analysis in as little as 20 minutes.

“Diagnosing children and newborns in the NICU and PICU is a race against the clock,” said Pieter van Rooyen, president and CEO at Edico Genome. “While NGS is known to be a rich diagnostic tool, lengthy turnaround times have prevented its use in this setting.

“Shrinking NGS analysis times enables potentially life-altering results and corresponding treatments to be received as quickly as possible while increasing labs’ capacity, enabling more patients to benefit from NGS. VCGS is truly changing the landscape of NGS at the point of care in Australia, and we look forward to working together on this important endeavour.”

The platform is highly reconfigurable, enabling users to run DRAGEN’s complete suite of pipelines, including Germline, Somatic, RNA and more, all from the same platform. Edico Genome’s dedicated staff of bioinformaticians, computer scientists and engineers continuously develop new algorithms and features for pipelines designed to increase accuracy, speed and scalability. DRAGEN is available on-site, in the cloud and through a blended hybrid-cloud solution.

“With the integration of DRAGEN, we are now able to drastically reduce the turnaround time for genetic tests,” said Dr Lunke. “As a result, we can not only provide potential life-altering results faster, but also sequence more patient data and help to save more newborn babies’ lives.”

Image credit: ©gio_tto/Dollar Photo Club

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