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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.

Type Journal
ISBN 1750-1172 (Electronic) 1750-1172 (Linking)
Authors Baynam, G.; Broley, S.; Bauskis, A.; Pachter, N.; McKenzie, F.; Townshend, S.; Slee, J.; Kiraly-Borri, C.; Vasudevan, A.; Hawkins, A.; Schofield, L.; Helmholz, P.; Palmer, R.; Kung, S.; Walker, C. E.; Molster, C.; Lewis, B.; Mina, K.; Beilby, J.; Pathak, G.; Poulton, C.; Groza, T.; Zankl, A.; Roscioli, T.; Dinger, M. E.; Mattick, J. S.; Gahl, W.; Groft, S.; Tifft, C.; Taruscio, D.; Lasko, P.; Kosaki, K.; Wilhelm, H.; Melegh, B.; Carapetis, J.; Jana, S.; Chaney, G.; Johns, A.; Owen, P. W.; Daly, F.; Weeramanthri, T.; Dawkins, H.; Goldblatt, J.
Responsible Garvan Author A/Prof Marcel Dinger
Publisher Name Orphanet Journal of Rare Diseases
Published Date 2017-05-03 00:00:00
Published Volume 12
Published Issue 1
Published Pages 83
Status Published in-print
DOI 10.1186/s13023-017-0619-z
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/28468665