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

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 & 23 others 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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Article number83
JournalOrphanet Journal of Rare Diseases
Volume12
Issue number1
DOIs
Publication statusPublished - May 3 2017

Fingerprint

Western Australia
Public Health
Inborn Genetic Diseases
Translational Medical Research
Medical Staff
Capacity Building
Education
Health Services Accessibility
Health Services
Patient Care

Keywords

  • Clinical best practice
  • Diagnosis
  • Diagnostic odyssey
  • Genomics
  • Phenomics
  • Policy
  • Precision public health
  • Undiagnosed
  • Rare disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

Cite this

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., ... Goldblatt, J. (2017). Initiating an undiagnosed diseases program in the Western Australian public health system. Orphanet Journal of Rare Diseases, 12(1), [83]. https://doi.org/10.1186/s13023-017-0619-z

Initiating an undiagnosed diseases program in the Western Australian public health system. / Baynam, Gareth; Broley, Stephanie; Bauskis, Alicia; Pachter, Nicholas; McKenzie, Fiona; Townshend, Sharron; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Schofield, Lyn; Helmholz, Petra; Palmer, Richard; Kung, Stefanie; Walker, Caroline E.; Molster, Caron; Lewis, Barry; Mina, Kym; Beilby, John; Pathak, Gargi; Poulton, Cathryn; Groza, Tudor; Zankl, Andreas; Roscioli, Tony; Dinger, Marcel E.; Mattick, John S.; Gahl, William; Groft, Stephen; Tifft, Cynthia; Taruscio, Domenica; Lasko, Paul; Kosaki, Kenjiro; Wilhelm, Helene; Melegh, Bela; Carapetis, Jonathan; Jana, Sayanta; Chaney, Gervase; Johns, Allison; Owen, Peter Wynn; Daly, Frank; Weeramanthri, Tarun; Dawkins, Hugh; Goldblatt, Jack.

In: Orphanet Journal of Rare Diseases, Vol. 12, No. 1, 83, 03.05.2017.

Research output: Contribution to journalArticle

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 2017, 'Initiating an undiagnosed diseases program in the Western Australian public health system', Orphanet Journal of Rare Diseases, vol. 12, no. 1, 83. https://doi.org/10.1186/s13023-017-0619-z
Baynam, Gareth ; Broley, Stephanie ; Bauskis, Alicia ; Pachter, Nicholas ; McKenzie, Fiona ; Townshend, Sharron ; Slee, Jennie ; Kiraly-Borri, Cathy ; Vasudevan, Anand ; Hawkins, Anne ; Schofield, Lyn ; Helmholz, Petra ; Palmer, Richard ; Kung, Stefanie ; Walker, Caroline E. ; Molster, Caron ; Lewis, Barry ; Mina, Kym ; Beilby, John ; Pathak, Gargi ; Poulton, Cathryn ; Groza, Tudor ; Zankl, Andreas ; Roscioli, Tony ; Dinger, Marcel E. ; Mattick, John S. ; Gahl, William ; Groft, Stephen ; Tifft, Cynthia ; Taruscio, Domenica ; Lasko, Paul ; Kosaki, Kenjiro ; Wilhelm, Helene ; Melegh, Bela ; Carapetis, Jonathan ; Jana, Sayanta ; Chaney, Gervase ; Johns, Allison ; Owen, Peter Wynn ; Daly, Frank ; Weeramanthri, Tarun ; Dawkins, Hugh ; Goldblatt, Jack. / Initiating an undiagnosed diseases program in the Western Australian public health system. In: Orphanet Journal of Rare Diseases. 2017 ; Vol. 12, No. 1.
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AU - Broley, Stephanie

AU - Bauskis, Alicia

AU - Pachter, Nicholas

AU - McKenzie, Fiona

AU - Townshend, Sharron

AU - Slee, Jennie

AU - Kiraly-Borri, Cathy

AU - Vasudevan, Anand

AU - Hawkins, Anne

AU - Schofield, Lyn

AU - Helmholz, Petra

AU - Palmer, Richard

AU - Kung, Stefanie

AU - Walker, Caroline E.

AU - Molster, Caron

AU - Lewis, Barry

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AU - Beilby, John

AU - Pathak, Gargi

AU - Poulton, Cathryn

AU - Groza, Tudor

AU - Zankl, Andreas

AU - Roscioli, Tony

AU - Dinger, Marcel E.

AU - Mattick, John S.

AU - Gahl, William

AU - Groft, Stephen

AU - Tifft, Cynthia

AU - Taruscio, Domenica

AU - Lasko, Paul

AU - Kosaki, Kenjiro

AU - Wilhelm, Helene

AU - Melegh, Bela

AU - Carapetis, Jonathan

AU - Jana, Sayanta

AU - Chaney, Gervase

AU - Johns, Allison

AU - Owen, Peter Wynn

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AU - Weeramanthri, Tarun

AU - Dawkins, Hugh

AU - Goldblatt, Jack

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