Helen Macpherson Smith Trust

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Case Study: The Royal Children’s Hospital Foundation

ProjectTargeted Diagnostic Sequencing: A revolution in diagnosing childhood disease

Amount$600,000 over three years


ProgramPast Programs | Health

This grant was approved under previous grants policy
Building organisational capacity Develop and test a new state-of-the art diagnostic platform; improve clinical management skills
Extending opportunity Improve timely diagnosis and treatment outcomes for children with genetic disorders and their families
Collaboration and partnership Murdoch Childrens Research Institute, Walter & Eliza Hall Institute, government, philanthropy and the international medical community

Development of a fast and cost effective platform for diagnosing a range of genetic disorders

HMSTrust funding enabled researchers at the Royal Children’s Hospital to develop a world-first rapid and accurate diagnostic platform, revolutionising the way genetic disorders are diagnosed.

Image Professor Andrew Sinclair and Dr Luke Lambeth


Up to 5% of children are born with genetic disorders which can have a significant, lifelong impact on the affected individuals and their families. It can take years for a disorder to be diagnosed and allow for properly informed clinical management.

Using Disorders of Sex Development (DSD) as the paradigm for all other genetic disorders, the researchers set out to develop a diagnostic platform for children with DSD by combining state-of-the art Next Generation sequencing with a new technique they had developed to screen DNA.

The outcomes of the project significantly exceeded expectations:

  • Development of a powerful and cost-effective new tool to rapidly identify the disease-causing variant in genes, leading to improved clinical management and outcomes.
  • Proof that this targeted gene panel is cost effective, efficient, rapid and accurate provides the opportunity to develop similar diagnostic tests for other difficult childhood conditions.
  • The project’s success leveraged further funding of $8m from government and philanthropy and has positioned The Royal Children’s Hospital as a global leader for diagnosis of DSD patients.
  • Prior to the project, only 13% of DSD patients were diagnosed. Using the new method, 43% to 60% of children now receive a diagnosis, depending on the condition.
  • By providing a rapid, clear definitive diagnosis, the child and their families are spared many invasive investigative procedures that can be both prolonged and expensive, saving money for both families and the Government health budget. In addition, it means the clinicians managing the child can provide an evidence-based care to improve outcomes.
  • The method has been transitioned into the Victorian Clinical Genetics Service as a fully accredited clinical diagnostic test. This test is now being used by clinicians from all over Australia.
  • The high diagnostic success rates will be used as part of a health economic case being put to the Federal Government to place a Medicare rebate on rapid, powerful, cost-saving diagnostic tests such as this.


Updated 8 February 2019

“It has led to improved clinical management and better outcomes for patients.” Professor Andrew Sinclair, Deputy Director, Murdoch Children’s Research Institute, Royal Children’s Hospital.