After standard clinically available genomic testing, around half of individuals with rare disease remain undiagnosed.

Genomic sequencing has transformed the approach to genetic diagnosis for individuals with rare, presumed monogenic disorders. The importance of receiving a definitive genetic answer cannot be overstated.

Individuals with an undiagnosed rare disease have often endured a lengthy diagnostic odyssey involving numerous costly and invasive diagnostic investigations, many of which are unnecessary. For individuals with genetic conditions, a precise diagnosis is of utmost importance: it guides clinical care, facilitates the prediction and prevention of complications, enables accurate genetic counselling and improves reproductive options for family members.

UDN-Aus, a three year study, led by CPI Professor John Christodoulou at the Murdoch Children’s Research Institute, draws upon the research and clinical expertise at several institutions, and aims to equip clinicians, clinical scientists, and researchers, to deliver a sustainable, national pathway for undiagnosed individuals.

This includes a robust re-evaluation pipeline for participants of their stored existing genomic data, and flow through to frontier genomic technologies. Clinicians at participating sites in this project will be upskilled to provide research reanalysis of this data via the Centre for Population Genomics’ seqr analysis platform.

Up to 600 participants (adult and paediatric) and their families who remain undiagnosed following clinical genomic sequencing will be recruited from participating clinical genetics services across Australia.