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Paediatric Rare Diseases Predisposition Screening

The Paediatric Rare Disease Predisposition Screening program addresses the 5% of children living with a rare genetic disease. This precision medicine initiative provides access to rapid diagnosis, highest quality medical management and therapies and the opportunity to participate in clinical trials.

For some children this will result in curative and disease halting therapies. For all children with a rare genetic disease, it will result in the best quality of care and improved health related quality of life; and will enhance long term family wellbeing, resilience, and psychosocial outcomes.

Families whose children have rare genetic diseases end up seeing a lot of health professionals, from doctors to genetic scientists, genetic counsellors and a range of specialists. Currently this care is not well coordinated, and families may play ‘medical ping pong’ for years before they get a diagnosis and suitable treatment, if at all. There is a desperate need to offer diagnosis and treatment equitably to those who need it.

Aims
• The introduction of the Gene2Care predisposition screening platform – the GeneAdd Trial (Genomics Testing and Functional Studies for Additional Yield in Undiagnosed Genetic Disorders) for the incorporation of rare disease precision medicine into the clinical setting. The trial 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. GeneAdd is supported by GeneSTART a genotype-phenotype patient registry.
• 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 health implementation research project that examined the healthcare readiness aspects of genomics and precision medicine, with a focus on whether clinical genetics service’s staff and non-genetics
specialists are ready to perform genomic testing and management, and the education, health system, and policy needs to pave the way to precision medicine at Sydney Children’s Hospitals Network (SCHN) and beyond. If so, what is the extent? If not, what are the barriers that are in place to prohibit the introduction of precision medicine for that sub-speciality.

  • The family-centred program combines the efforts of Clinical Geneticists and Genetic Counsellors across Sydney Children’s Hospitals Network, while collaborating with world-leading experts in genomics.

    Additionally, it included a fellowship program to train young clinicians in interpreting and reporting genomic results, ensuring better understanding and informed management planning.

    We worked with clinicians and families to establish Gene2Care, to improve the standard of care, including timely and enhanced diagnoses and access to management and treatment., and to incorporate a predisposition screening platform, GeneAdd, into the clinical setting. Our aim was to improve the diagnostic odyssey for families by conducting further genetic tests not generally available to patients.

    As a result, this project has commenced the necessary pathway for all children with genetic diseases in NSW to receive a timely diagnosis, care in a specialist centre with excellent communication with their local hospital and general practitioner, access to genetic support groups, and new hope provided by research opportunities.

  • Lead Investigators

    • Dr David Mowat, Clinical Genetics Head Centre for Clinical Genetics Sydney Children’s Hospital, Randwick
    • Dr Elizabeth Palmer Clinical Geneticist, Sydney Children’s Hospitals Network (Randwick), School of Clinical Medicine, UNSW Sydney
    • Dr Alan Ma, Medical Geneticist Department of Clinical Genetics, Sydney Children’s Hospital Westmead, Sydney Medical School, University of Sydney
    • A/Prof Meredith Wilson, [Past] Medical Geneticist Department of Clinical Genetics, Sydney Children’s Hospital. Westmead
    • A/Prof Kristine Barlow-Stewart, Senior Research Genetics Counsellor Department of Paediatrics Women’s and Children’s Health UNSW Sydney
    • A/Prof Tony Roscioli, Staff Specialist in Clinical Genetics and Genomics NSW Health Pathology Randwick Group Leader, Neurogenomics NeuRA

    Research Team

    • Ms Claire Wong, Associate Genetic Counsellor Clinical Genetics, Sydney Children’s Hospital, Westmead
    • Dr Kristi Jones, Co-Head, Department of Clinical Genetics, Sydney Children’s Hospital, Westmead
    • Dr Janine Smith, Co-Head, Department of Clinical Genetics, Sydney Children’s Hospital, Westmead
    • Professor Chris Cowell, [Past] Director, Research Sydney Children’s Hospitals Network
    • NSW Health Pathology
    • The Broad Institute (USA)
    • The Children’s Medical Research Institute
    • The Sydney Children’s Hospitals Network
  • The Paediatric Rare Diseases Predisposition Screening project has put in place the necessary pathway for every child in NSW to receive a timely diagnosis, care in a specialist centre with excellent communication with their local hospital and GP, access to genetic support groups, and new hope provided by research opportunities, streamlining the rare diseases diagnostic journey for families through advanced genetic testing.

    LA Impact Report Cancer Predispositon (2023)

  • Publications:

    See Luminesce Alliance Publications – completed research – Paediatric Rare Diseases Screening (Gene 2 Gene Care)

    Articles:

    Predisposition screening for paediatric rare diseases