First ‘DRAGEN’ Bio-IT platform in Australia could reduce the diagnosis time for critically ill babies

In January 2018, following a 6 month validation period, VCGS deployed the DRAGEN Bio-IT Platform into their clinically accredited pipeline as part of the Australian Genomic's Acute Care Genomics project. This project aims to analyse genomic data from 250 babies and children with suspected genetic conditions in neonatal intensive care units (NICUs) and pediatric intensive care units (PICUs) across Australia over the next few years.

VCGS is a leading 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. As a part of MCRI, VCGS is a not-for-profit organisation that funnels all proceeds back into research. Together, VCGS and MCRI have the largest collective genetics expertise in the Southern Hemisphere. They provide fully integrated research, diagnostics and clinical genetics services to provide healthcare professionals with access to leading technology and a supportive team of clinical geneticists and genetic counsellors.

"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. "With the integration of DRAGEN, we are now able to drastically reduce the turnaround time for some of our specialized genetic tests. As a result, we can not only provide potential life-altering results faster to those who need it most, but also sequence more patient data and help to save more newborn babies' lives."

Leveraging field-programmable gate array (FPGA) technology, DRAGEN rapidly accelerates analysis of next-generation sequencing (NGS) data, completing its part of the data analysis in minutes rather than hours. The DRAGEN 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 pipelines designed to increase accuracy, speed and scalability. DRAGEN is available both onsite, in the Cloud and through a blended hybrid-cloud solution.

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

The VCGS team hopes that this important service will be made more widely available over time to provide early diagnosis for rare genetic disease which will help support doctors, patients and their families.