Genomic medicine uses information from a patient’s DNA (gene variants) to enable improved diagnosis and better treatment tailored to the individual.  Currently, the key block in applying genomic medicine is understanding which gene variants contribute to disease and how they act. This information is needed to develop and apply medicines that target the biological pathway disrupted by the causal gene variant.

Goals of the Phenomics Translation Initiative

  1. Understanding which rare gene variants contribute to disease
  2. Defining how gene variants lead to disease mechanisms
  3. Development and application of therapies that target pathways encoded by gene variants

The Centre for Personalised Immunology at ANU have established a modular Genomics-Phenomics pipeline (Fig. 1). This discovery pipeline comprises state-of-the-art bioinformatics, implemented at the National Computational Infrastructure, which identifies candidate disease-causing gene variants for further analysis. The phenomics approach consists of sophisticated functional analysis of these candidate variants, focusing on production of bespoke laboratory models (with support from Phenomics Australia), where the precise gene variant identified in a patient is engineered into the genome of cell and animal model systems.

Outcomes: Improved diagnosis and better treatment options

By understanding the mechanism of the disease progression at a molecular level, Clinicians will be increasingly able to select a better treatment option using drugs that are already available or work with developing new drugs that work more specifically. Providing personalised treatment tailored to a patient’s specific rare gene variant will reduce side effects resulting in improved patient quality of life. More efficient use of expensive therapies by precision application to patients who will most likely benefit from them will result in significant cost benefit by reducing waste.