AB002. The rare and undiagnosed diseases diagnostic service
Part 1: Plenary

AB002. The rare and undiagnosed diseases diagnostic service

Gareth Baynam1,2,3,4, Nicholas Pachter1,2, Fiona McKenzie1,2, Sharon Townshend1, Jennie Slee1, Cathy Kiraly-Borri1, Anand Vasudevan1, Anne Hawkins1, Stephanie Broley1, Lyn Schofield1,5, Caroline Graham4, Kym Mina6,7, John Beilby6, Mark Davis6, Tarun Weeramanthri8, Hugh Dawkins4,7,8,9, Jack Goldblatt1,2

1Genetic Services of Western Australia, WA Department of Health, Perth, WA, Australia; 2School of Paediatrics and Child Health, Perth, WA, Australia; 3Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, WA, Australia; 4Office of Population Health Genomics, Public Health and Clinical Services Division, WA Department of Health, Perth, WA, Australia; 5Centre for Comparative Genomics, Murdoch University, Murdoch, WA, Australia; 6Diagnostic Genomics, PathWest, WA Department of Health, Perth, WA, Australia; 7School of Pathology and Laboratory Medicine, University of Western Australia, Crawley, WA, Australia; 8Public Health and Clinical Services Division, WA Department of Health, Perth, WA, Australia; 9Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Bentley, WA, Australia

Abstract: The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) is a Clinical Genomic Diagnostic Pipeline operating within the clinical service at Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for more than 25 years and it serves a population of 2.5 million people. It includes paediatric, adult, prenatal and familial cancer services in metropolitan and regional WA. Within this framework, and in partnership with the Office of Population Health Genomics, Diagnostic Genomics at PathWest and others, it is delivering a clinically integrated pipeline. This service is aligned to the WA Rare Diseases Strategic Framework 2015-2018 to address the unmet need of the diagnostic odyssey of those living with rare and undiagnosed diseases. It is: (I) delivered in a patient-centric manner that is resonant with the patient journey; (II) offers multiple options including non-genetic testing; monogenic and genomic (targeted and whole exome) analysis, and matchmaking; (III) is synchronous with precision phenotyping methods, including 3D facial analysis, and phenotype-enabled decision support; (IV) captures new knowledge, including multiple expert review; (V) has multiple points for entry, exit and re-entry to allow people access to information they can use, when they want to receive it; (VI) draws on the clarity gained from the extremity of rare diseases to provide insights for more common diseases; (VII) is integrated with current translational genomic research activities; and (VIII) is designed for flexibility for integrative generation of, and integration with, further clinical research including for diagnostics, community engagement, policy and models of care.

Keywords: Genomics; genetic care; diagnosis; disease

Cite this abstract as: Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Graham C, Mina K, Beilby J, Davis M, Weeramanthri T, Dawkins H, Goldblatt J. The rare and undiagnosed diseases diagnostic service. Ann Transl Med 2015;3(S2):AB002. doi: 10.3978/j.issn.2305-5839.2015.AB002

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