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Genomics and Personalised Medicine

As we find out more about our genes and how we react differently to diseases and to treatment, personalised medicine becomes increasingly important. Genomic medicine is the use of genomic information in clinical decision-making and patient care. This type of personalised medicine can be used to support more accurate diagnosis and prognosis, to identify patients at a greater risk of disease or complications, to select and prioritise therapy and in the prevention and control of outbreaks of infections.

Murdoch Children's has always been at the forefront of genetics and, using in-house genetic technologies, our researchers have been able to discover many new disease genes. Gene discovery is the first step towards developing effective treatments. However, whilst this technology is being used in a research laboratory setting, these dramatic advances in genomic research are not yet routinely available in the clinical setting.

What genomic medicine offers children and families

Australian Genomics

Australian Genomics is a national, collaborative, genomics research program led by Murdoch Children’s Research Institute Director, Professor Kathryn North.

Australian Genomics was established in 2014 through the collective vision of more than 50 partner institutes in Australia to demonstrate the promise of genomic medicine to improve healthcare for all. In 2015, Australian Genomics was awarded a five-year, $25M NHMRC Targeted Call for Research Grant, to ‘prepare Australia for the genomics revolution in healthcare’.

In 2018 Australian Genomics counts 80 organisations and 400 investigators and collaborators within its research program. This includes the clinical and diagnostic genetics services across the country, along with major research and academic institutions. Australian Genomics works with the state-based genomics initiatives, engages closely with state and federal governments and plays a significant role in driving genomic health implementation and policy internationally.

Australian Genomics’ clinical flagship studies are providing access to genomic testing for people with rare diseases and cancers. These clinical Flagships are mapping current practices and building evidence of the potential of genomic technology:

  • To improve genetic diagnosis, cost-effectively
  • To lead to better clinical outcomes and management
  • To restore reproductive confidence and help families plan for the future;
  • To identify targeted therapies for patients.

Genomics is a disruptive technology, so Australian Genomics research programs are also addressing the technological, health services, workforce and societal implications of its use.

These programs are:

  • Informing standards and processes for a coordinated system for genomic healthcare;
  • Identifying appropriate tools, frameworks and protections for the safe and ethical sharing of genomic and health data;
  • Examining the societal, economic, ethical, legal and regulatory impacts of genomic medicine and harnessing implementation science to inform service delivery, and;
  • Mapping the gaps in the genomic and non-genomic healthcare workforce to guide the expansion and training of the healthcare workforce.

For more information and to view all the partners involved in Australian Genomics, visit:

Melbourne Genomics Health Alliance

Murdoch Children's Research Institute is a proud member of the Melbourne Genomics Health Alliance, which brings together genomics expertise and resources from across Melbourne.

The Alliance links the clinical, research and teaching strengths of its seven founding members to integrate genomic medicine into everyday healthcare for the betterment of patients. The Alliance is clinically driven, with all decision making guided by clinical principles and with patient preference and welfare front-of-mind. A key motivation for the creation of the Alliance is the ethical sharing of clinical genomic data from multiple accredited testing laboratories.

Members of the Alliance include:

View the Melbourne Genomics Health Alliance Website