Transforming the care of children with inherited disorders

Strategic Initiative: Genomics and personalised medicine 

Our program of ultra-rapid genomic testing is revolutionising the diagnosis and treatment of rare and potentially severe genetic conditions.

Genomic medicine uses information from an individual’s DNA in clinical decision-making and patient care. This rapidly-changing field of personalised medicine offers enormous potential to support more accurate diagnosis and prognosis, target treatments more effectively and manage and prevent the risk of disease.

Since it was founded, Murdoch Children’s has been at the forefront of genetic research. Using in-house genetic technologies, our researchers have discovered over 20 new complicated gene disorders in children.

We are also working hard to bridge the gap between lab research and clinical care. Gene discovery is the first step towards developing effective treatments, but more work is needed to make these dramatic advancements routinely available in the clinical setting. Through our clinical partnerships including the Victorian Clinical Genetics Services, we have helped many families find peace of mind and a way forward through resolving the mystery of their child’s condition.

A rare genetic disease affects one in every 12 Australian births, and these conditions make a major contribution to the chronic disease burden by significantly increasing medical costs, stress and time commitments for families, and reducing children's ability to have a normal childhood.

Genomic medicine can increase the diagnostic rate fivefold, reduce the cost of diagnosis by 75 percent, and deliver a diagnosis within days, instead of weeks, months, or even longer. This means that children can receive more targeted treatment much earlier, improving their quality of life for the future.


As a global leader in both child health and genomics, Murdoch Children’s partners with a number of national and international organisations in the interest of expanding our knowledge and application of genomic medicine. These include:

  • The International Precision Child Health Partnership (IPCHiP), a collaboration between Murdoch Children’s and paediatric centres in Boston, Toronto and London that aims to enable the world’s top experts in child health and genomics to work together to improve diagnosis, implement personalised treatment decisions, and develop new therapeutic targets and treatments that will benefit children around the world
  • The Centre for Population Genomics, a collaboration between Murdoch Children’s and the Garvan Institute in Sydney, which is designed to build the tools, resources, and expertise required to shape the implementation of population-scale genomic medicine in Australia
  • Australian Genomics, a national, collaborative genomics research program led by Murdoch Children’s Director, Professor Kathryn North with over 70 national and global partners
  • The Melbourne Genomics Health Alliance, which brings together genomics expertise and resources from across Melbourne.