| Title: |
Initiating an undiagnosed diseases program in the Western Australian public health system |
| 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, CE; Molster, C; Lewis, B; Mina, K; Beilby, J; Pathak, G; Poulton, C; Groza, T; Zankl, A; Roscioli, T; Dinger, ME; Mattick, JS; 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, PW; Daly, F; Weeramanthri, T; Dawkins, H; Goldblatt, J |
| Source: |
urn:ISSN:1750-1172 ; Orphanet Journal of Rare Diseases, 12, 1, 83 |
| Publisher Information: |
Springer Nature |
| Publication Year: |
2017 |
| Collection: |
UNSW Sydney (The University of New South Wales): UNSWorks |
| Subject Terms: |
31 Biological Sciences; 32 Biomedical and Clinical Sciences; 3105 Genetics; Human Genome; Health Disparities and Racial or Ethnic Minority Health Research; Biotechnology; Health Services; Rare Diseases; Health Disparities; Genetics; Clinical Research; 4.1 Discovery and preclinical testing of markers and technologies; Generic health relevance; 3 Good Health and Well Being; Genomics; Health Planning; Humans; Proteomics; Public Health; Western Australia; Clinical best practice; Diagnosis; Diagnostic odyssey; Phenomics; Policy; Precision public health; Undiagnosed; anzsrc-for: 31 Biological Sciences; anzsrc-for: 32 Biomedical and Clinical Sciences; anzsrc-for: 3105 Genetics |
| Description: |
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 ... |
| Document Type: |
article in journal/newspaper |
| Language: |
unknown |
| Relation: |
https://hdl.handle.net/1959.4/unsworks_53290 |
| DOI: |
10.1186/s13023-017-0619-z |
| Availability: |
https://hdl.handle.net/1959.4/unsworks_53290; https://doi.org/10.1186/s13023-017-0619-z |
| Rights: |
open access ; https://purl.org/coar/access_right/c_abf2 ; CC BY ; https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.CE9B20A5 |
| Database: |
BASE |