Initiating an undiagnosed diseases program in the Western Australian public health system

Abstract Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic rates. However, complementary cross-disciplinary approaches are also critical to address those patients with multisystem disorders who traverse the bounds of multiple specialties and remain undiagnosed despite existing intra-specialty and genomic-focused approaches. The diagnostic possibilities of undiagnosed diseases include genetic and non-genetic conditions. The focus on genetic diseases addresses some of these disorders, however a cross-disciplinary approach is needed that also simultaneously addresses other disorder types. Herein, we describe the initiation and summary outcomes of a public health system approach for complex undiagnosed patients - the Undiagnosed Diseases Program-Western Australia (UDP-WA). Results Briefly the UDP-WA is: i) one of a complementary suite of approaches that is being delivered within health service, and with community engagement, to address the needs of those with severe undiagnosed diseases; ii) delivered within a public health system to support equitable access to health care, including for those from remote and regional areas; iii) providing diagnoses and improved patient care; iv) delivering a platform for in-service and real time genomic and phenomic education for clinicians that traverses a diverse range of specialties; v) retaining and recapturing clinical expertise; vi) supporting the education of junior and more senior medical staff; vii) designed to integrate with clinical translational research; and viii) is supporting greater connectedness for patients, families and medical staff. Conclusion The UDP-WA has been initiated in the public health system to complement existing clinical genomic approaches; it has been targeted to those with a specific diagnostic need, and initiated by redirecting existing clinical and financial resources. The UDP-WA supports the provision of equitable and sustainable diagnostics and simultaneously supports capacity building in clinical care and translational research, for those with undiagnosed, typically rare, conditions.

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PID https://www.doi.org/10.6084/m9.figshare.c.3770837.v1
PID https://www.doi.org/10.6084/m9.figshare.c.3770837
URL https://dx.doi.org/10.6084/m9.figshare.c.3770837.v1
URL https://dx.doi.org/10.6084/m9.figshare.c.3770837
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Author Gareth Baynam
Author Stephanie Broley
Author Alicia Bauskis
Author Nicholas Pachter
Author Fiona McKenzie
Author Sharron Townshend
Author Jennie Slee
Author Cathy Kiraly-Borri
Author Anand Vasudevan
Author Anne Hawkins
Author Lyn Schofield
Author Petra Helmholz
Author Richard Palmer
Author Stefanie Kung
Author Caroline Walker
Author Caron Molster
Author Barry Lewis
Author Kym Mina
Author John Beilby
Author Gargi Pathak
Author Cathryn Poulton
Author Tudor Groza
Author Andreas Zankl
Author Tony Roscioli
Author Marcel Dinger
Author John Mattick
Author William Gahl
Author Stephen Groft
Author Cynthia Tifft
Author Domenica Taruscio
Author Paul Lasko
Author Kenjiro Kosaki
Author Helene Wilhelm
Author Bela Melegh
Author Jonathan Carapetis
Author Sayanta Jana
Author Gervase Chaney
Author Allison Johns
Author Peter Owen
Author Frank Daly
Author Tarun Weeramanthri
Author Hugh Dawkins
Author Jack Goldblatt
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Collected From Datacite
Hosted By figshare
Publication Date 2017-05-04
Publisher Figshare
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keyword FOS: Biological sciences
keyword FOS: Computer and information sciences
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Source https://science-innovation-policy.openaire.eu/search/dataset?datasetId=dedup_wf_001::2ff9b4feb103b04457208b68b04f2538
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Last Updated 13 January 2021, 17:25 (CET)
Created 13 January 2021, 17:25 (CET)