Clinical Genomics

Genomics_Home
Photo credit: P. Morris/Garvan

Overview

The Kinghorn Centre for Clinical Genomics (KCCG) was established by the Garvan Institute in 2012 to advance the use of genomic information in patient care.

With the launch of Genome.One, a core component of KCCG’s mission was achieved. However, there remain considerable opportunities to translate further value of the human genome to improve healthcare.

In 2017, KCCG’s mission was redefined to focus on realising the clinical value of the genome to enable precision medicine. Realisation of precision medicine requires dramatic changes in how clinical and research domains interact and share information, and KCCG’s new phase is focused on creating disruptive change in this area.

Find out more about our mission and vision in About KCCG.

Clinical Application

Clinical whole genome sequencing services for diagnosis of rare and genetic disease are available through Garvan's wholly owned subsidiary company, Genome.One.

Public and professional engagement will be vital to realising the potential of clinical genomics in Australia, and the Centre is developing programs, resources and opportunities for health practitioners and communities to learn about genomics.

Technology and Partnerships

In 2014, Garvan acquired a HiSeq X Ten sequencing platform, which provides KCCG with powerful genome sequencing potential and the capability to sequence up to 18,000 whole human genomes per year. In 2014, the Centre became a genomics node of BioPlatforms Australia

Researchers with ethically-approved projects can order genomes through Discovery at Genome.One.

Research Scope

Research at KCCG is focused on realising the clinical value of the genome and is divided into five key programs:

  • Identifying novel clinically reported genetic variants by mining population-scale genomic data and associated health records
  • Expanding the clinical utility of whole genome sequencing by developing algorithms to annotate pathogenic loci in noncoding regions of the genome
  • Enabling access to the most advanced and efficient genomic technologies by evaluating new sequencing platforms/approaches and developing new methods
  • Establishing rapid and cost-effective genomic tests for cancer diagnosis, prognosis, and risk prediction, which include whole-genome somatic cancer testing, focused capture sequencing, and inherited cancer predisposition screening
  • Developing and delivering targeted educational programs and resources for health professionals, patients and communities

Read more about our specific research projects and themes.  

In the News

Garvan researchers shine across Australia - Nov 10, 2017
Garvan reaches 15,000 genomes - Jul 27, 2017
PKD Australia funding to help develop diagnostic tool for kidney disease - May 12, 2017
“The best tool of its kind in the world”: Patient Archive being used to advance diagnosis of rare diseases in WA - Apr 07, 2017
Garvan researchers awarded NSW Health Early-Mid Career Fellowships - Dec 23, 2016
International experts share insights into genomic healthcare at Australia’s first clinical genomics symposium - Dec 20, 2016
Genomes of healthy older Australians to accelerate medical research in NSW and beyond - Dec 16, 2016
New Centre for Research Excellence to transform diagnosis and management of severe neurocognitive disorders - Dec 05, 2016
NHMRC: grants success for Garvan researchers - Dec 05, 2016
Garvan Institute achieves major milestone: 10,000 genomes sequenced - Oct 18, 2016
Alan's story: a life-changing diagnosis through genome sequencing (UPDATED) - Sep 24, 2016
Cancer Institute NSW grant brings advanced genomics technology to Australia - Sep 19, 2016
NSW leadership in the global advance of clinical genomics - Aug 29, 2016
New era in genetic disease diagnosis with Australia’s first whole-genome testing service to be launched today - Jul 27, 2016
Garvan team a top performer in international genomics challenge - Jul 06, 2016
2016 Shine Translational Research Fellowship awarded - May 21, 2016
Landmark Lions project to provide genome sequencing to hundreds of Aussie kids with cancer - May 14, 2016
MyGene2 website reaches Open Science Prize final - May 12, 2016
NSW Health collaborative genomics grants announced - Apr 27, 2016
Handling big data in genomics: Garvan partners with NCI - Feb 25, 2016
45 and Up: working with Australia’s biggest health study - Nov 18, 2015
NHMRC funding success for Garvan researchers - Nov 09, 2015
Garvan gets behind Movember - Nov 05, 2015
Garvan partners with Genomics England - Sep 25, 2015
Genomics initiative to help children with genetic disorders - Sep 10, 2015
Garvan researchers benefit from Cancer Institute NSW equipment funding - Aug 31, 2015
Garvan Institute welcomes NSW funding of Sydney Genomics Collaborative - Jun 17, 2014
The future of genomic medicine has arrived in Australia - Jan 15, 2014
Garvan wins Hitachi Data Systems APAC Health and Life Sciences Innovation Award - Aug 30, 2013

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