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Predisposition screening for cancers

Luminesce Alliance

  • Paediatric Precision Medicine
Date Funded:
  • 1 January, 2019
Chief Investigator/s:
  • Dr. Luciano Dalla-Pozza
  • Professor Tracey O’Brien
  • Associate Professor Mark Cowley
  • Professor Claire Wakefield
  • Associate Professor Judy Kirk
  • Associate Professor Kathy Tucker
  • Vanessa Tyrrell

Project summary

This program will see all children in NSW diagnosed with cancer eligible to participate in a genetic predisposition screening study. It will allow us to identify gene variants of possible clinical significance and to identify families susceptible to the development of cancer and rare diseases. This program will establish the foundation for access to the appropriate services for the management of risk, preventative measures and treatment for children and families with a genetic predisposition to cancer.

What is the issue for NSW?

As the youngest of all cancer patients, children are most likely to have an underlying genetic cause of their diagnosis, yet prevalence of cancer predisposition in children diagnosed with cancer is not well understood, with no routine screening available. With Whole Genome Sequencing driving the genomics revolution, studies show ≥10% of child cancer patients (significantly higher in certain cancers), harbor at least one germline mutation in a cancer predisposition gene. Thus understanding childhood cancer is critical to understanding the impact of genetics on development and prevention of cancer, and translating this into improved health outcomes for patients and families.

This will benefit the 250 new childhood cancer diagnoses in NSW per annum, and parents and siblings of the ~10% of childhood cancer patients who will be found to carry a possible cancer-causing mutation. Knowledge of predisposition status benefits cancer survivors and family members throughout their lives, leading to better health outcomes and the more effective use of health services.

Through this program, New South Wales will take a significant lead to the international knowledge of gene variants, leading to new clinical agenda to benefit patients and the wider community.

What does the research aim to do and how?

We will leverage the existing National Zero Childhood Cancer network and analysis pipelines to underpin a statewide Child Cancer Predisposition Screening Program that will:

  • deliver reportable cancer predisposition results to patients and families in real time
  • tailor their treatment and clinical care throughout life
  • identify new variants for experimental characterisation with functional genomics partners
  • contribute to growing international databases of cancer predisposition in children and young adults and inform prediction of cancer risk and disease burden
  • build foundations for coordinated workforce planning, training and development, to accelerate the development of a child cancer predisposition screening program nationally long term.

Read more about the work of Luminesce Alliance.

Impact for Children’s Health Report 2022 – 2023

Partnering institutions

  • Children’s Cancer Institute
  • Sydney Children’s Hospitals Network
  • University of Sydney
  • University of NSW