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

Gareth Baynam^{1

2

3

4

5

6

7}, Stephanie Broley⁸, Alicia Bauskis⁹, Nicholas Pachter^{8

10}, Fiona McKenzie^{8

10}, Sharron Townshend⁸, Jennie Slee⁸, Cathy Kiraly-Borri⁸, Anand Vasudevan⁸, Anne Hawkins⁸, Lyn Schofield^{8

11}, Petra Helmholz^{12

13}, Richard Palmer^{12

13}, Stefanie Kung^{12

13}, Caroline E Walker⁹, Caron Molster⁹, Barry Lewis¹⁴, Kym Mina^{14

15}, John Beilby^{14

15}, Gargi Pathak¹⁶, Cathryn Poulton¹⁶, Tudor Groza^{17

18}, Andreas Zankl^{17

19}, Tony Roscioli^{17

18}, Marcel E Dinger¹⁷, John S Mattick^{17

18}, William Gahl^{20

21}, Stephen Groft²², Cynthia Tifft^{20

21}, Domenica Taruscio²³, Paul Lasko²⁴, Kenjiro Kosaki²⁵, Helene Wilhelm²⁶, Bela Melegh²⁷, Jonathan Carapetis^{28

16}, Sayanta Jana²⁹, Gervase Chaney¹⁶, Allison Johns²⁹, Peter Wynn Owen²⁹, Frank Daly¹⁶, Tarun Weeramanthri³⁰, Hugh Dawkins^{9

31

15

11}, Jack Goldblatt^{8

10}

Affiliations

¹ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
² School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
³ Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁴ Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁵ Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁶ Western Australian Register of Developmental Anomalies, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁷ School of Spatial Sciences, Curtin University, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁸ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.
⁹ Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
¹⁰ School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
¹¹ Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
¹² School of Spatial Sciences, Curtin University, Perth, WA, Australia.
¹³ Cooperative Research Centre for Spatial Information, Perth, WA, Australia.
¹⁴ Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, WA, Australia.
¹⁵ School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
¹⁶ Perth Children's Hospital, Perth, WA, Australia.
¹⁷ Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, Australia.
¹⁸ St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, NSW, Australia.
¹⁹ The Children's Hospital at Westmead, Clinical Genetics Service, Westmead, NSW, Australia.
²⁰ National Human Genome Research Institute, National Institutes of Health, Bethesda, Rockville, MD, USA.
²¹ Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Rockville, MD, USA.
²² National Centre for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.
²³ Instituto Superiore di Sanità, National Center for Rare Diseases, Rome, Italy.
²⁴ Canadian Institutes of Health Research, Institute of Genetics, Montreal, Canada.
²⁵ Keio University School of Medicine, Tokyo, Japan.
²⁶ Wilhelm Foundation, Brottby, Sweden.
²⁷ Department of Medical Genetics, University of Pécs, Pécs, Hungary.
²⁸ Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.
²⁹ King Edward Memorial Hospital, Perth, WA, Australia.
³⁰ Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
³¹ Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, WA, Australia.

PMID: 28468665
PMCID: PMC5415708
DOI: 10.1186/s13023-017-0619-z

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

Gareth Baynam et al. Orphanet J Rare Dis. 2017.

. 2017 May 3;12(1):83.

doi: 10.1186/s13023-017-0619-z.

Authors

Affiliations

¹ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
² School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
³ Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁴ Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁵ Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁶ Western Australian Register of Developmental Anomalies, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁷ School of Spatial Sciences, Curtin University, Perth, WA, Australia. Gareth.baynam@health.wa.gov.au.
⁸ Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.
⁹ Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
¹⁰ School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
¹¹ Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
¹² School of Spatial Sciences, Curtin University, Perth, WA, Australia.
¹³ Cooperative Research Centre for Spatial Information, Perth, WA, Australia.
¹⁴ Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, WA, Australia.
¹⁵ School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
¹⁶ Perth Children's Hospital, Perth, WA, Australia.
¹⁷ Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, Australia.
¹⁸ St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, NSW, Australia.
¹⁹ The Children's Hospital at Westmead, Clinical Genetics Service, Westmead, NSW, Australia.
²⁰ National Human Genome Research Institute, National Institutes of Health, Bethesda, Rockville, MD, USA.
²¹ Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Rockville, MD, USA.
²² National Centre for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.
²³ Instituto Superiore di Sanità, National Center for Rare Diseases, Rome, Italy.
²⁴ Canadian Institutes of Health Research, Institute of Genetics, Montreal, Canada.
²⁵ Keio University School of Medicine, Tokyo, Japan.
²⁶ Wilhelm Foundation, Brottby, Sweden.
²⁷ Department of Medical Genetics, University of Pécs, Pécs, Hungary.
²⁸ Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.
²⁹ King Edward Memorial Hospital, Perth, WA, Australia.
³⁰ Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
³¹ Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, WA, Australia.

PMID: 28468665
PMCID: PMC5415708
DOI: 10.1186/s13023-017-0619-z

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.

Keywords: Clinical best practice; Diagnosis; Diagnostic odyssey; Genomics; Phenomics; Policy; Precision public health; Undiagnosed.

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Figures

**Fig. 1**
Program Schematic. This schematic represents the Clinical flow of the Undiagnosed Diseases Program WA

See this image and copyright information in PMC

References

1. Tifft CJ, Adams DR. The National Institutes of Health undiagnosed diseases program. Curr Opin Pediatr. 2014;26(6):626–33. doi: 10.1097/MOP.0000000000000155. - DOI - PMC - PubMed
1. European Organisation for Rare Diseases . Survey of the delay in diagnosis for 8 rare diseases in Europe (EurordisCare2). EURORDIS. 2007.
1. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, et al. Survey of healthcare experiences of Australians living with rare diseases. Orphanet J Rare Dis. 2016;11:30. doi: 10.1186/s13023-016-0409-z. - DOI - PMC - PubMed
1. Taruscio D, Groft SC, Cederroth H, Melegh B, Lasko P, Kosaki K, et al. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Mol Genet Metab. 2015;116(4):223–5. doi: 10.1016/j.ymgme.2015.11.003. - DOI - PubMed
1. Baynam G, Pachter N, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, et al. The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. Orphanet J Rare Dis. 2016;11(1):77. doi: 10.1186/s13023-016-0462-7. - DOI - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

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References

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