Genomics is the study of genes, their functions and how genes interact with one another. It’s one of the most promising and rapidly advancing areas of biomedical research. Dramatic advances in technology mean it is now fast and cost-effective to compare the entire genome of patients to find genes associated with the disease.

Insights into the genetic basis of disease enable us to diagnose, treat and prevent many inherited diseases and disorders with a genetic component, including cancer. Genomics can improve the health outlook for millions of people worldwide. 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 also forms an integral part of the Sydney Genomics Collaborative program, established to improve genomic research across the state. The program comprises;

  • Medical Genome Reference Ban - a collection of about 4,000 whole genome sequences from healthy, aged people to be used for control purposes in disease-specific whole genome 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.

Case Study: Craniofacial Diagnostics

UNSW Medicine is leading Australian and international efforts to link genomic research with improved clinical outcomes.

We’ve applied emerging genetic technologies to establish a comprehensive craniofacial diagnostic service. Genomic testing is used in this program for consanguineous couples at pre-conception.

We’ve also established clinical services for Neuromuscular and Tuberous Sclerosis at the Prince of Wales Hospital through a multidisciplinary clinic.

Scientist with test tubes