Enabling Capabilities

Genomics – the study of genes and their functions – is one of the most promising and rapidly advancing areas of biomedical research.

Dramatic advances in technology mean it is now relatively quick and cost effective to compare the DNA sequence of the entire human genome in each of us: the most powerful blood test ever invented. The resulting insights into the genetic basis of disease are enabling us to diagnose, treat and prevent a raft of inherited diseases and disorders that have a genetic component, including cancer, and improve the outlook for millions of people worldwide.

Genomics plays a critical part in each of the research themes of UNSW Medicine, and is enmeshed in clinical and research activities across St Vincent’s Hospital, Prince of Wales Hospital, the Sydney Children’s Hospitals Network, UNSW Medicine, the Garvan Institute, the Victor Chang Institute and the Kirby Institute.

The Kinghorn Centre for Clinical Genomics (KCCG) at the Garvan Institute of Medical Research is the only site in Australia able to perform whole genome sequencing of humans, using the Illumina HiSeq X Ten, a high-speed genome sequencing system. KCCG has already sequenced more than 10,000 whole human genomes, and Garvan’s commercial spin-out from KCCG, Genome.One Ltd, is one of only two sites in the world with regulatory approval to perform whole genome sequencing as a diagnostic test.  This technology enables the study of whole-genome sequences at population scale, and is doubling the rates of diagnosis for unsolved childhood diseases.

UNSW Medicine forms an integral part of the NSW state government-funded Sydney Genomics Collaborative program, established in June 2014 to boost genomic research across the state. The program comprises:-

  • Medical Genome Reference Bank: a collection of about 4,000 whole genome sequences from healthy, aged people to be used for control purposes in disease-specific whole genome sequence research.
  • NSW Genomics Collaborative Grants: funding for researchers to undertake whole genome sequencing to improve understanding of the genetic causes of disease.
  • Genomic Cancer Medicine Program: a research program dedicated to cancer genomics, led by the Head of Garvan’s Cancer Division and Director of The Kinghorn Cancer Centre, Professor David Thomas.

With one in 12 Australians living with a genetic disorder, advances in genomic technologies mean there are increasing opportunities to deliver improved care and management to patients and their families.

UNSW Medicine is leading Australia and internationally in linking genomic research with improved clinical outcomes. For example, we have applied emerging genetic technologies in establishing a comprehensive craniofacial diagnostic service, for using genomic testing for consanguineous couples at pre-conception, and for establishing clinical services for Neuromuscular and Tuberous Sclerosis at the Prince of Wales Hospital through a multidisciplinary clinic. 

With one in 12 Australians living with a genetic disorder, advances in genomic technologies mean there are increasing opportunities to deliver improved care and management to patients and their families.

UNSW Medicine is leading Australia and internationally in linking genomic research with improved clinical outcomes. For example, we have applied emerging genetic technologies in establishing a comprehensive craniofacial diagnostic service, for using genomic testing for consanguineous couples at pre-conception, and for establishing clinical services for Neuromuscular and Tuberous Sclerosis at the Prince of Wales Hospital through a multidisciplinary clinic.