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.
- NSW Health Pathology
- The Board Institute (USA)
- The Children’s Medical Research Institute
- The Sydney Children’s Hospital Network
- Westmead Hospital