Clinical Genomics

clinical genomics banner.jpg
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, in line with the advances in clinical genomics and the current healthcare, research and political environment, to focus on realising the clinical value of the genome to enable precision healthcare. Realisation of precision healthcare 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.

Research Scope

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

  • Translational Genome Informatics: Expanding the clinical utility of whole genome sequencing by developing algorithms to annotate pathogenic loci in noncoding regions of the genome
  • Genomic Technologies: Enabling access to the most advanced and efficient genomic technologies by evaluating new sequencing platforms/approaches and developing new methods
  • Informatics: Organising population-scale genomic data and and making it accessible and useful to authorised users
  • Phenomics: Enriching understanding of the associations between diseases, genotype, phenotype and environment via structured knowledge representation and discovery techniques
  • Tumour genomics: 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
  • Education and Communication: Developing and delivering targeted educational programs and resources for health professionals, patients and communities

We are already working on projects that integrate the skills and knowledge of team members across all programs to ensure that we are not siloed and make the most of our diverse expertise.

Read more about the research program aims, activities and collaborations.  

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.

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

 

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