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Predisposition screening for paediatric rare diseases

Luminesce Alliance

  • Paediatric Precision Medicine
Date Funded:
  • 1 January, 2019
Chief Investigator/s:
  • Dr. David Mowat
  • Associate Professor Meredith Wilson
  • Associate Professor Kristine Barlow-Stewart
  • Associate Professor Tony Roscioli
Hear about the predisposition screening for rare diseases project

Project summary

Improving the understanding of the role of genetic predisposition in children with rare diseases whilst also enhancing the future workforce capability and capacity.

What is the issue for NSW?

At least one in 12 babies is born with a rare disease. A rare disease is defined as one that affects less than one in 2,000 people. But there are an estimated 7,000 known rare diseases.

Despite the progress in diagnosis of rare diseases, and in genetic and genomic research, many families still do not have access to genomic testing. When families do get a diagnosis, many rare diseases have no treatment options.

This initiative will provide clinical genetics services and families with a pathway to incorporate novel and emerging approaches in patient diagnosis and to advance our understanding of rare genetic disorders.

What does the research aim to do and how?

The paediatric rare disease predisposition screening program has three core components:

  • The introduction of a predisposition screening platform for the incorporation of rare disease precision medicine into the clinical setting. It will firstly conduct the GenAdd trial (Genomics Testing and Functional Studies for Additional Yield in Undiagnosed Genetic Disorders) which aims to find a diagnosis using whole genome sequencing for children suspected of having a rare disease. The determination of a diagnosis is critical in the future treatment and management of a child with a rare disease.
  • A fellowship program to train young clinicians in the interpretation and reporting of genomic results so that treating clinicians can have a better understanding of what the results means and how best to appropriate a management plan based on these results.
  • To conduct a survey of treating sub-specialities of the Sydney Children’s Hospital Network to determine whether these sub-specialities have introduced precision medicine into their model of care. If so, what is the extent? If not, what are the barriers are in place to prohibit the introduction of precision medicine for that sub-speciality.

Read more about the work of Luminesce Alliance.

Impact for Children’s Health Report 2022 – 2023

Partnering institutions

  • Sydney Children’s Hospital Network
  • University of NSW
  • University of Sydney
  • NSW Health Pathology
  • Children’s Medical Research Institute
  • Children’s Cancer Institute