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

G. Baynam; N. Pachter; F. McKenzie; S. Townshend; J. Slee; C. Kiraly-Borri; A. Vasudevan; A. Hawkins; S. Broley; L. Schofield; H. Verhoef; C.E. Walker; C. Molster; J.M. Blackwell; S. Jamieson; D. Tang; T. Lassmann; K. Mina; J. Beilby; M. Davis; N. Laing; L. Murphy; T. Weeramanthri; H. Dawkins; J. Goldblatt

doi:10.1186/s13023-016-0462-7

Back

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

Journal article

Open access

Peer reviewed

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

G. Baynam, N. Pachter, F. McKenzie, S. Townshend, J. Slee, C. Kiraly-Borri, A. Vasudevan, A. Hawkins, S. Broley, L. Schofield, …

Orphanet Journal of Rare Diseases, Vol.11(1)

2016

DOI: https://doi.org/10.1186/s13023-016-0462-7

Files and links (2)

pdf

rare and undiagnosed.pdfDownload View

Published (Version of Record) Open Access

url

Free to Read *No subscription requiredView

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 Km2. 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.

Details

Title: The rare and undiagnosed diseases diagnostic service – Application of massively parallel sequencing in a state-wide clinical service
Authors/Creators: G. Baynam (Author/Creator) - Government of Western Australia
N. Pachter (Author/Creator) - The University of Western Australia
F. McKenzie (Author/Creator) - Government of Western Australia
S. Townshend (Author/Creator) - Government of Western Australia
J. Slee (Author/Creator) - Government of Western Australia
C. Kiraly-Borri (Author/Creator) - Harry Perkins Institute of Medical Research
A. Vasudevan (Author/Creator) - Government of Western Australia
A. Hawkins (Author/Creator) - Government of Western Australia
S. Broley (Author/Creator) - Government of Western Australia
L. Schofield (Author/Creator) - Murdoch University
H. Verhoef (Author/Creator) - Curtin University
C.E. Walker (Author/Creator) - Government of Western Australia
C. Molster (Author/Creator) - Government of Western Australia
J.M. Blackwell (Author/Creator) - The Kids Research Institute Australia
S. Jamieson (Author/Creator) - The Kids Research Institute Australia
D. Tang (Author/Creator) - The Kids Research Institute Australia
T. Lassmann (Author/Creator) - The Kids Research Institute Australia
K. Mina (Author/Creator) - The University of Western Australia
J. Beilby (Author/Creator) - Government of Western Australia
M. Davis (Author/Creator) - Government of Western Australia
N. Laing (Author/Creator) - Harry Perkins Institute of Medical Research
L. Murphy (Author/Creator) - Murdoch University
T. Weeramanthri (Author/Creator) - Government of Western Australia
H. Dawkins (Author/Creator) - Government of Western Australia
J. Goldblatt (Author/Creator) - The University of Western Australia
Publication Details: Orphanet Journal of Rare Diseases, Vol.11(1)
Publisher: BioMed Central
Identifiers: 991005545141907891
Copyright: © 2016 The Author(s).
Murdoch Affiliation: Institute for Immunology and Infectious Diseases
Language: English
Resource Type: Journal article

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

Source: InCites

Metrics

154 File views/ downloads

117 Record Views

45 Times Cited - Web of Science

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types: Domestic collaboration
Citation topics: 1 Clinical & Life Sciences; 1.189 Genome Studies; 1.189.597 Genetic Testing
Web Of Science research areas: Genetics & Heredity; Medicine, Research & Experimental
ESI research areas: Clinical Medicine