Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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

Gareth Baynam  1   2   3   4   5   6 , Nicholas Pachter  7   8 , Fiona McKenzie  7   8 , Sharon Townshend  7 , Jennie Slee  7 , Cathy Kiraly-Borri  7   9 , Anand Vasudevan  7 , Anne Hawkins  7 , Stephanie Broley  7 , Lyn Schofield  7   10 , Hedwig Verhoef  11   12 , Caroline E Walker  13 , Caron Molster  13 , Jenefer M Blackwell  14 , Sarra Jamieson  14 , Dave Tang  14 , Timo Lassmann  14 , Kym Mina  15   16 , John Beilby  15 , Mark Davis  15 , Nigel Laing  15   9 , Lesley Murphy  10   17 , Tarun Weeramanthri  18 , Hugh Dawkins  13   19   16   10 , Jack Goldblatt  7   8
Affiliations

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

Gareth Baynam et al. Orphanet J Rare Dis. .

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Program schematic. This schematic represents the Rare and Undiagnosed Diseases Diagnostic Service (RUDDS)
See this image and copyright information in PMC

References

    1. Ayme S, Rodwell C., eds. 2013 Report on the state of the art of rare disease activities in Europe. EUCERD, 2013
    1. European Organisation for Rare Diseases. Rare Diseases: understanding this public health priority. EURORDIS, 2005.
    1. Remuzzi G, Garattini S. Rare diseases: what's next? Lancet (London, England) 2008;371(9629):1978–9. doi: 10.1016/S0140-6736(08)60847-8. - DOI - PubMed
    1. Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet (London, England. 2008;371(9629):2039–41. doi: 10.1016/S0140-6736(08)60872-7. - DOI - PubMed
    1. European Organisation for Rare Diseases. Survey of the delay in diagnosis for 8 rare diseases in Europe (EurordisCare2). EURORDIS Fact sheets, 2007.