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 Investigators

Project leaders engage with and draw upon the expertise of partners within universities, research institutes and hospital and health services around Queensland.

Dr Chirag Patel, Genetic Health Queensland (lead)

Dr Julie McGraughran, Genetic Health Queensland

Dr Di Milnes, Genetic Health Queensland

Dr Michael Gattas, Genetic Health Queensland

Dr Karin Van Spaendonck-Zwarts, Genetic Health Queensland

Dr Steven McTaggart, Queensland Children’s Hospital

Dr Jim McGill, Queensland Children’s Hospital

Dr Peter Trnka, Queensland Children’s Hospital

Dr Honey Heussler, Queensland Children’s Hospital

Professor Glen Gole, Queensland Children’s Hospital

Dr David Levitt, Queensland Children’s Hospital

Dr Fariha Balouch, Queensland Children’s Hospital

Professor Jerry Wales, Queensland Children’s Hospital


other whole of life projects