Program 1 – A National Diagnostic and Research Network

The implementation of diagnostic genomics across Australia is fragmented and highly variable across the states and territories. This leads to inequitable access to services and cost inefficiencies.

This program is developing national standards for diagnostic genomics and coordinating the development of a national network to deliver state-of-the-art clinical diagnosis, which will bring:

• Faster and more efficient diagnosis
• Prevention of genetic disorders
• Improved medical management and treatment options
• Removal of process duplication
• Tools to improve data sharing and variant calling
• Quick resolution for variants of uncertain significance (VUS)
• Evidence to drive systematic change in health services delivery
• Greater opportunities for gene discovery research