Paediatric to adult care


As well as individual project outcomes, the Whole of Life Projects will work together to establish key infrastructure to support the clinical delivery of medical genomics in Queensland:

  • Support the journey from paediatrics to adult healthcare services

  • Support the implementation of a statewide genetic workforce model

The following genomics projects are part of Queensland Genomics’ Round 2 Whole of Life Portfolio.

 
 

Rapid testing for paediatric intensive care patients - identifying rare diseases in children early

Paediatric genetic disorders are a major cause of neonatal/infant deaths and paediatric hospital admissions.

This project will explore the use of rapid whole genome sequencing as a first line tool in the diagnostic pathway for babies and children in intensive care with suspected rare disease. The whole genome of the child and both parents will be sequenced and analysed, with the aim of providing an accurate genetic diagnosis within ten days.

This is a clinical innovation project, which explores new applications of medical genomics in clinical practice.

PROJECT LEAD: Dr Chirag Patel (Genetic Health Queensland)

 

Using genomics to diagnose rare diseases in children - reducing diagnostic delays for families

The There are between 6000 and 8000 known rare diseases affecting approximately 1 in 12 Australians.

Current data indicates that almost two million Australians live with a rare disease, almost half of whom are children. This project will use whole genome sequencing to provide an accurate and timely genetic diagnosis to families who have a child with a suspected rare disease. The goal of this project is to evaluate the benefits of using genomic testing as a first line tool in the diagnostic pathway of this complex patient cohort.

This is a clinical implementation project, which applies best evidence to clinical practice and is intended to become standard of care following completion of the project.

PROJECT LEAD: Dr Chirag Patel (Genetic Health Queensland)

 

Improving diagnosis and treatments for refractory epilepsy - personalised treatments to improve seizure control.

Around two per cent of people will develop epilepsy during their lifetime and currently there are around 100,000 children and adults in Queensland with epilepsy.

This project will incorporate genomic testing into the model of care for patients with neurological disorders like refractory epilepsy. This approach can provide patients and their families with a cause for the disorder as well as an opportunity for better treatment choices, suited to the individual patient. The ultimate goal of this work is to improve quality of care for patients and their families, as well as improving efficiencies in health care.

This is a clinical implementation project, which applies best evidence to clinical practice and is intended to become standard of care following completion of the project.

PROJECT LEAD: Associate Professor Lata Vadlamudi (Metro North Hospital and Health Service)