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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-05-03

AUTHORS

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

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. More... »

PAGES

83

Journal

TITLE

Orphanet Journal of Rare Diseases

ISSUE

1

VOLUME

12

Author Affiliations

  • School of Spatial Sciences, Curtin University, Perth, WA Australia
  • Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA Australia
  • Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA Australia
  • School of Paediatrics and Child Health, University of Western Australia, Perth, WA Australia
  • Centre for Comparative Genomics, Murdoch University, Perth, WA Australia
  • Cooperative Research Centre for Spatial Information, Perth, WA Australia
  • Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, WA Australia
  • School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA Australia
  • Perth Children’s Hospital, Perth, WA Australia
  • St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, NSW Australia
  • The Children’s Hospital at Westmead, Clinical Genetics Service, Westmead, NSW Australia
  • Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW Australia
  • Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Rockville, MD USA
  • National Centre for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA
  • Instituto Superiore di Sanità, National Center for Rare Diseases, Rome, Italy
  • Canadian Institutes of Health Research, Institute of Genetics, Montreal, Canada
  • Keio University School of Medicine, Tokyo, Japan
  • Wilhelm Foundation, Brottby, Sweden
  • Department of Medical Genetics, University of Pécs, Pécs, Hungary
  • King Edward Memorial Hospital, Perth, WA Australia
  • Public Health Division, Department of Health, Government of Western Australia, Perth, WA Australia
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13023-017-0619-z

    DOI

    http://dx.doi.org/10.1186/s13023-017-0619-z

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1084956802

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28468665


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