• Paediatric Precision Medicine

Paediatric Cancer and Rare Disease Predisposition Screening Program – PPM 3a & PPM 3b

Project Overview

This program will see all children in NSW diagnosed with cancer and rare diseases 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 and rare diseases. 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.


  • Children’s Cancer Institute (Australia)
  • Kids Cancer Centre Sydney Children’s Hospital, Randwick, Sydney Children’s Hospitals Network (Australia)
  • Children’s Cancer Research Unit, Cancer Centre for Children, Department of Genetics, Children’s Hospital Westmead, Sydney Children’s Hospitals Network (Australia)
  • Zero Childhood Cancer national and international partners network (8 hospitals, >20 research institutes), incl. all three NSW Paediatric Oncology Centres, Children’s Hospital Westmead, Sydney Children’s Hospitals Network, John Hunter Children’s Hospital, and Sydney Children’s Hospital, Randwick (Australia)
  • Hereditary Cancer Centre, Prince of Wales Hospital, Randwick (Australia)
  • Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital (Australia)
  • Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research (Australia)
  • Behavioural Sciences Unit, Kids Cancer Centre, Randwick, University of NSW School for Women’s and Children’s Health (Australia)
  • Children’s Medical Research Institute, Children’s Cancer Institute, and CHW Functional genomics researchers
  • University of NSW (Australia)
  • University of Sydney (Australia)
  • Consumer representative groups

This screening program will fuel an improved understanding of the role of genetic predisposition in childhood cancer and rare diseases, identify new gene variants of possible clinical significance, and identify families at risk of developing cancer and rare diseases.

Lead Investigators

  • Tracey_OBrien@2x

    Associate Professor Tracey O’Brien

    Director, Kids Cancer Centre, Sydney Children’s Hospitals Network
  • J Byrne

    Professor Jennifer A. Byrne

    Director of Biobanking, NSW Health Pathology and Professor of Molecular Oncology, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney
  • Vanessa_Tyrell@2x

    Vanessa Tyrrell

    Co-Head, Personalised Medicine Theme, Children’s Cancer Institute
  • Luciano_Dalla_Pozza@2x

    Dr Luciano Dalla-Pozza

    Head and Senior Staff Specialist, Cancer Centre for Children, Sydney Children’s Hospitals Network
  • Mark_Cowley@2x

    Associate Professor Mark Cowley

    Group Leader, Computational Biology, Children’s Cancer Institute
  • Claire_Wakefield@2x

    Professor Claire Wakefield

    Professor in the Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales Faculty of Medicine and Head, Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW
  • Westmead A/Prof Judy Kirk (Director of familial cancer)

    Associate Professor Judy Kirk

    Director, Familial Cancer Service, Westmead Hospital
  • professor-kathy-tucker-ao

    Associate Professor Kathy Tucker AO

    Head, Hereditary Cancer Clinic, Prince of Wales Hospital Randwick and Chair, NSW Combined Family Cancer Clinic Group


  • Associate Professor Kristine Barlow-Stewart

    Centre for Clinical Genetics, Sydney Children's Hospital Randwick
  • Dr Yuyan Chen

    Children's Cancer Research Unit, University of Sydney
  • Dr Noemi Fuentes-Bolanos

    Children’s Cancer Institute
  • Dr Kate Hetherington

    School of Women and Children’s Health, University of New South Wales
  • Dr Joice Kuroiwa-Trzmielina

    Children's Cancer Insitutute
  • Ms Emily Mould

    Children’s Cancer Institute
  • A/Prof Geraldine O'Neill

    Children's Cancer Research Unit, University of Sydney
  • Dr Mark Pinese

    Children’s Cancer Institute
  • Dr Bhavna Padhye

    Children's Hospital at Westmead, Sydney Children's Hospital Network
  • Ms Abi Ragunathan

    Children's Hospital at Westmead, Sydney Children’s Hospitals Network
  • Ms Dianne Sylvester

    Children's Cancer Research Unit, University of Sydney