학술논문
Initiating an undiagnosed diseases program in the Western Australian public health system
Document Type
article
Author
Gareth Baynam; Stephanie Broley; Alicia Bauskis; Nicholas Pachter; Fiona McKenzie; Sharron Townshend; Jennie Slee; Cathy Kiraly-Borri; Anand Vasudevan; Anne Hawkins; Lyn Schofield; Petra Helmholz; Richard Palmer; Stefanie Kung; Caroline E. Walker; Caron Molster; Barry Lewis; Kym Mina; John Beilby; Gargi Pathak; Cathryn Poulton; Tudor Groza; Andreas Zankl; Tony Roscioli; Marcel E. Dinger; John S. Mattick; William Gahl; Stephen Groft; Cynthia Tifft; Domenica Taruscio; Paul Lasko; Kenjiro Kosaki; Helene Wilhelm; Bela Melegh; Jonathan Carapetis; Sayanta Jana; Gervase Chaney; Allison Johns; Peter Wynn Owen; Frank Daly; Tarun Weeramanthri; Hugh Dawkins; Jack Goldblatt
Source
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Subject
Language
English
ISSN
1750-1172
Abstract
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.