Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic network
Abstract
Abstract 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 Diseases Network (UDN-Aus) was the first National Australian UDP initiative funded by the Medical Research Future Fund’s Genomics Health Futures Mission (MRFF2007567). 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 were 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 crucial 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 imperative for the sustainable delivery of genomic research for rare disease.
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Authors: Madeleine Harris, Tegan L. Stait, Sarah Casauria, Susan M. White, Julie M. McGaughran, Rocío Rius, Timo Lassmann, Christopher Richmond, Janine Smith, Mathew Wallis, Suzanne C.E.H. Sallevelt, Michael Field, C.A. Cunningham, Simon Sadedin, Tracy Dudding‐Byth, Sandra T. Cooper, Ilias Goranitis, Ira W. Deveson, Katrina M. Bell, Shannon K. D. Leblanc, Maie Walsh, Simon Bodek, Sarah Jelenich, Rachel Austin, Ryan Pysar, Hannah Thomson, Louise Cilento, Lauren Dreyer, Elly L. Lynch, Molly Carr, Julia R. Broadbent, Laura Wedd, Elaine Zhang, Teresa Zhao, Monique Dunstan, Meutia Ayuputeri Kumaheri, Mohammadreza Hajjari, Francisco Santos Gonzalez, The Australian Undiagnosed Diseases Network, Gareth Baynam, Amy Ruscigno, Andrew Paul Fennell, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Lundie, Benjamin Kamien, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chirag Patel, Chloe Cunningham, Christopher Mark Richmond, Christopher Barnett, Christopher Richards, Clara Chung, Daniel G. MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David J. Amor, David Mowat, David A. Stroud, Denisse Garza, Di Milnes, Edward Formaini, Elaine Zhang, Elizabeth E. Palmer, Ella Jane Wilkins, Ella Zurita, Ellenore M. Martin, Elly Lynch, Emma Bonser, Emma Krzesinski, Esther Pierini, Evanthia O. Madelli, Francisco Santos-González, Gareth S Baynam, Genevieve Say, Gregory Pratt, Gunjan Garg, Hamish Scott
Institutions: The University of Queensland, The University of Sydney, Royal Brisbane and Women's Hospital, The University of Melbourne, UNSW Sydney, Monash University, Australian National University, The University of Western Australia, Monash Health, The Kids Research Institute Australia, Princess Margaret Hospital for Children, Griffith University, Murdoch Children's Research Institute, The Royal Melbourne Hospital, St Vincent's Clinic, Garvan Institute of Medical Research, Victorian Clinical Genetics Services, Women's and Children's Hospital, St Vincent's Hospital Sydney, Austin Hospital, Perth Children's Hospital, Hunter Genetics, Children's Medical Research Institute, Sydney Children’s Hospitals Network, Australian Genomics Health Alliance