18 October 2016
The Kinghorn Centre for Clinical Genomics (KCCG) at the Garvan Institute of Medical Research has achieved a major milestone by sequencing more than 10,000 whole genomes since it acquired and installed its Illumina HiSeq X system in 2014. Most of the genomes were sourced from individuals who are part of research projects investigating the genetic components of human health and disease.
Garvan was one of the first centres in the world to acquire the Illumina HiSeq X system, which is capable of sequencing around 300 genomes a week, or 15,000 a year. Since the start of operations in May 2014, KCCG has steadily increased the sequencing output of the HiSeq X Ten platform: last month, the centre sequenced more than 1,100 genomes, and more genomes have been sequenced in the last six months than in the entire previous year.
The samples sequenced have been part of:
- KCCG’s whole genome sequencing service for researchers
- samples that were sequenced to validate the newly accredited clinical service now being offered through Genome.One
- collaborative research programs.
More than a quarter of the 10,000 samples have been sequenced as part of the Sydney Genomics Collaborative, a program established by NSW Health to boost access for medical researchers across NSW to this state-of-the-art technology.
Professor John Mattick says that high-throughput sequencing has the power to accelerate discovery and ultimately transform medicine and health:
“The real power of sequencing comes from volume. It provides enormous interpretive power by being able to compare each newly sequenced genome with tens of thousands of other genomes, together with associated clinical information, and pinpoint the relevant variations.
Moreover, whole human genome sequencing provides a wealth of data for future discovery and health management, which is not provided by more targeted genetic tests - huge strategic value for money.”
Associate Professor Marcel Dinger, who leads KCCG, says the 10,000-genome milestone is significant for the Centre.
“A high-throughput genome analysis facility requires skilled technical and computational staff, sophisticated computing infrastructure and support, huge databases, robotics, and software development. As a result of this dedicated development, we’ve established one of the leading genome sequencing centres and informatics pipelines in the world.”
KCCG’s sequencing processes and pipelines were recently accredited for clinical sequencing, allowing specialist physicians to order a whole genome sequencing (WGS) test for patients and their families through the newly established company Genome.One.
To see inside the facility visit our virtual tour page.