| [PMID]: | 28468665 |
| [Au] Autor: | 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 |
| [Ad] Endereço: | Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au. |
| [Ti] Título: | Initiating an undiagnosed diseases program in the Western Australian public health system. |
| [So] Source: | Orphanet J Rare Dis;12(1):83, 2017 May 03. |
| [Is] ISSN: | 1750-1172 |
| [Cp] País de publicação: | England |
| [La] Idioma: | eng |
| [Ab] Resumo: | 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. |
| [Mh] Termos MeSH primário: |
Planejamento em Saúde/organização & administração
Saúde Pública/métodos
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| [Mh] Termos MeSH secundário: |
Genômica
Seres Humanos
Proteômica
Austrália Ocidental
|
| [Pt] Tipo de publicação: | JOURNAL ARTICLE |
| [Em] Mês de entrada: | 1802 |
| [Cu] Atualização por classe: | 180228 |
[Lr] Data última revisão:
| 180228 |
| [Sb] Subgrupo de revista: | IM |
| [Da] Data de entrada para processamento: | 170505 |
| [St] Status: | MEDLINE |
| [do] DOI: | 10.1186/s13023-017-0619-z |
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