Establishing the Australian Undiagnosed Disease Network (Udn-Aus); Australia’s First National Rare Disease Diagnostic Network

Background: An estimated 1 in 12 individuals across the world have a rare disease. The Undiagnosed Diseases Network International (UDNI) recommend Undiagnosed Disease Programs (UDPs) as the best approach to facilitate diagnosis and support for those affected. The Australian Undiagnosed Disease Network (UDN-Aus) is the first National Australian UDP initiative funded by the Medical Research Future Fund’s Genomic Health Futures Mission (GNT2007567). Aims: UDN-Aus brings together an unprecedented national collaborative network for rare disease, aiming to improve the rate of genomic diagnoses for those with undiagnosed rare genetic conditions, enabling precise, personalised care to individuals throughout Australia. Methods: The research program recruited Australians who have been seen through a clinical genetics service and remained undiagnosed following clinically available genomic testing. This paper outlines the approach taken to establish a national research project at 12 clinical recruitment sites. The methods detail the funding, aims, governance, study design, population and participation process, health economic research and preliminary results, and recommendations for future sustainability and implementation. Results: The study was approved by the Royal Children’s Hospital Human Research Ethics Committee on 19 November 2021 (RCH79712), with relevant site-specific approvals at local recruitment sites. Key benefits and barriers in the establishment of UDN-Aus are outlined. Conclusion: The successful establishment of this program required several components, including meaningful and ongoing community and stakeholder engagement, strategic appointment of key operational staff, and a tailored approach to facilitate more equitable enrolment. It also highlighted several imperative areas for consideration to ensure future sustainable implementation of a national UDP. These include continued investment in Australia’s national genomic data transfer policy and infrastructure, and research ethics and governance procedures is imperative for the sustainable delivery of genomic research for rare disease.