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.