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Orphanet J Rare Dis. 2016 Jun 11;11(1):77. doi: 10.1186/s13023-016-0462-7.

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.

Author information

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, Perth, 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
Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.
8
School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
9
Centre for Medical Research, Harry Perkins Institute of Medical Research, QEII Medical Centre, University of Western Australia, Perth, WA, Australia.
10
Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.
11
School of Spatial Sciences, Curtin University, Perth, WA, Australia.
12
Cooperative Research Centre for Spatial Information, Perth, WA, Australia.
13
Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
14
Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.
15
Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, WA, Australia.
16
School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
17
Rare Voices Australia, Sydney, Australia.
18
Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.
19
Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, WA, Australia.

Abstract

BACKGROUND:

The Rare and Undiagnosed Diseases Diagnostic Service (RUDDS) refers to a genomic diagnostic platform operating within the Western Australian Government clinical services delivered through Genetic Services of Western Australia (GSWA). GSWA has provided a state-wide service for clinical genetic care for 28 years and it serves a population of 2.5 million people across a geographical area of 2.5milion Km(2). Within this context, GSWA has established a clinically integrated genomic diagnostic platform in partnership with other public health system managers and service providers, including but not limited to the Office of Population Health Genomics, Diagnostic Genomics (PathWest Laboratories) and with executive level support from the Department of Health. Herein we describe report presents the components of this service that are most relevant to the heterogeneity of paediatric clinical genetic care.

RESULTS:

Briefly the platform : i) offers multiple options including non-genetic testing; monogenic and genomic (targeted in silico filtered and whole exome) analysis; and matchmaking; ii) is delivered in a patient-centric manner that is resonant with the patient journey, it has multiple points for entry, exit and re-entry to allow people access to information they can use, when they want to receive it; iii) is synchronous with precision phenotyping methods; iv) captures new knowledge, including multiple expert review; v) is integrated with current translational genomic research activities and best practice; and vi) is designed for flexibility for interactive generation of, and integration with, clinical research for diagnostics, community engagement, policy and models of care.

CONCLUSION:

The RUDDS has been established as part of routine clinical genetic services and is thus sustainable, equitably managed and seeks to translate new knowledge into efficient diagnostics and improved health for the whole community.

KEYWORDS:

Clinical best practice; Diagnosis; Diagnostic odyssey; Genomics; Policy; Precision public health; Undiagnosed

PMID:
27287197
PMCID:
PMC4902909
DOI:
10.1186/s13023-016-0462-7
[Indexed for MEDLINE]
Free PMC Article

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