Predisposition Screening for Paediatric Rare Diseases

Project Overview

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 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.

Collaborations

Dr David Mowat
Clinical Genetics Head Centre for Clinical Genetics Sydney Children’s Hospital Randwick
A/Prof Meredith Wilson
Medical Geneticist Department of Clinical Genetics The Children’s Hospital at Westmead
A/Prof Kristine Barlow-Stewart
Senior Research Genetics Counsellor Department of Paediatrics Women’s and Children’s Health UNSW
A/Prof Tony Roscioli
Staff Specialist in Clinical Genetics and Genomics NSW Health Pathology Randwick Group Leader, Neurogenomics NeuRA

Ms Claire Wong
Associate Genetic Counsellor Clinical Genetics The Children’s Hospital at Westmead
Dr Kristi Jones
Co-Head, Department of Clinical Genetics The Children’s Hospital at Westmead
Dr Janine Smith
Co-Head, Department of Clinical Genetics The Children’s Hospital at Westmead
Professor Chris Cowell
Director, Research Sydney Children’s Hospital Network