Whole of Life Portfolio

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 and:

support the journey from paediatrics to adult healthcare services
support the implementation of a statewide genetic workforce model

epilepsy project

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. Currently there are around 100,000 children and adults in Queensland with epilepsy. More than a third of patients don’t respond to current anti-epilepsy drugs.

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 patient.

The ultimate goal of this work is to improve the quality of care for patients and their families, and improve efficiencies in healthcare.

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

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

rare diseases project

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

There are between 6000 and 8000 known rare diseases affecting approximately 1 in 12 Australians. This means that close to two million Australians live with a rare disease—nearly half of whom are children.

This project will use whole genome sequencing as the first line test to provide an accurate and timely genetic diagnosis to families who have a child with a suspected rare disease.

Many families who have a child with a suspected rare disease undergo a ‘diagnostic odyssey’ averaging five years. The diagnosis of a rare disease is often delayed because of their small numbers and complex nature.

We will also evaluate the benefits of using genomic testing as a first line test 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 project completion.

PROJECT LEAD: Dr Chirag Patel (Genetic Health Queensland)

rare diseases in icu project

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

Paediatric genetic disorders are a major cause of neonatal and 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.