The promise of genomics is to help Australians live longer and healthier lives by integrating genomics into the management of health and integrating genomics information and workflows into the health system.

The current focus of genomics is on using individual genetic information to inform tailored healthcare decisions.

Genomics is also expected to have a large impact at the population level in the future. Genomics has the potential to enable earlier diagnosis, improve the identification of the best treatment for the patient, and assist in disease prevention by analysing many genes or the entire genome (comprising all 22,000 genes present in human DNA) at once.

A range of technologies underpin genomics across a number of industries (including the diagnostic, bioinformatics, cloud, pharmaceutical, and medical device industries) which enable the following functions comprising a genomic test to be undertaken:

  1. Sampling: where tissue samples are collected and processed to enable the DNA to be read
  2. Sequencing: where specific information about the genetic structure is read
  3. Analysis: where the genetic information is assessed and evaluated to identify gene variants with relevance to diagnosis and/or treatment decisions
  4. Interpretation: where the clinical relevance of the analysed information is identified
  5. Application: where the results of the genomics tests are used to inform treatment, as well as informing changes to clinical practice and research and/or development of new treatments