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

Gareth Baynam, Nicholas Pachter, Fiona McKenzie, S. Townshend, J. Slee, C. Kiraly-Borri, A. Vasudevan, A. Hawkins, S. Broley, L. Schofield, H. Verhoef, C. E. E. Walker, C. Molster, Jenefer M. Blackwell, Sarra Jamieson, Dave Tang, Timo Lassmann, Kym Mina, John Beilby, Mark Davis & 5 others Nigel Laing, L. Murphy, T. Weeramanthri, Hugh Dawkins, Jack Goldblatt

Research output: Contribution to journalArticle

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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.
Original languageEnglish
Article number77
Number of pages7
JournalOrphanet Journal of Rare Diseases
Volume11
DOIs
Publication statusPublished - 2016

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Genetic Services
Diagnostic Services
High-Throughput Nucleotide Sequencing
Rare Diseases
Western Australia
Health
Exome
Metagenomics
Access to Information
Translational Medical Research
Genomics
Practice Guidelines
Research
Computer Simulation
Public Health
Pediatrics
Population

Cite this

Baynam, Gareth ; Pachter, Nicholas ; McKenzie, Fiona ; Townshend, S. ; Slee, J. ; Kiraly-Borri, C. ; Vasudevan, A. ; Hawkins, A. ; Broley, S. ; Schofield, L. ; Verhoef, H. ; Walker, C. E. E. ; Molster, C. ; Blackwell, Jenefer M. ; Jamieson, Sarra ; Tang, Dave ; Lassmann, Timo ; Mina, Kym ; Beilby, John ; Davis, Mark ; Laing, Nigel ; Murphy, L. ; Weeramanthri, T. ; Dawkins, Hugh ; Goldblatt, Jack. / The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. In: Orphanet Journal of Rare Diseases. 2016 ; Vol. 11.
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title = "The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service",
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.",
author = "Gareth Baynam and Nicholas Pachter and Fiona McKenzie and S. Townshend and J. Slee and C. Kiraly-Borri and A. Vasudevan and A. Hawkins and S. Broley and L. Schofield and H. Verhoef and Walker, {C. E. E.} and C. Molster and Blackwell, {Jenefer M.} and Sarra Jamieson and Dave Tang and Timo Lassmann and Kym Mina and John Beilby and Mark Davis and Nigel Laing and L. Murphy and T. Weeramanthri and Hugh Dawkins and Jack Goldblatt",
year = "2016",
doi = "10.1186/s13023-016-0462-7",
language = "English",
volume = "11",
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Baynam, G, Pachter, N, McKenzie, F, Townshend, S, Slee, J, Kiraly-Borri, C, Vasudevan, A, Hawkins, A, Broley, S, Schofield, L, Verhoef, H, Walker, CEE, Molster, C, Blackwell, JM, Jamieson, S, Tang, D, Lassmann, T, Mina, K, Beilby, J, Davis, M, Laing, N, Murphy, L, Weeramanthri, T, Dawkins, H & Goldblatt, J 2016, 'The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service' Orphanet Journal of Rare Diseases, vol. 11, 77. https://doi.org/10.1186/s13023-016-0462-7

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. / Baynam, Gareth; Pachter, Nicholas; McKenzie, Fiona; Townshend, S.; Slee, J.; Kiraly-Borri, C.; Vasudevan, A.; Hawkins, A.; Broley, S.; Schofield, L.; Verhoef, H.; Walker, C. E. E.; Molster, C.; Blackwell, Jenefer M.; Jamieson, Sarra; Tang, Dave; Lassmann, Timo; Mina, Kym; Beilby, John; Davis, Mark; Laing, Nigel; Murphy, L.; Weeramanthri, T.; Dawkins, Hugh; Goldblatt, Jack.

In: Orphanet Journal of Rare Diseases, Vol. 11, 77, 2016.

Research output: Contribution to journalArticle

TY - JOUR

T1 - The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

AU - Baynam, Gareth

AU - Pachter, Nicholas

AU - McKenzie, Fiona

AU - Townshend, S.

AU - Slee, J.

AU - Kiraly-Borri, C.

AU - Vasudevan, A.

AU - Hawkins, A.

AU - Broley, S.

AU - Schofield, L.

AU - Verhoef, H.

AU - Walker, C. E. E.

AU - Molster, C.

AU - Blackwell, Jenefer M.

AU - Jamieson, Sarra

AU - Tang, Dave

AU - Lassmann, Timo

AU - Mina, Kym

AU - Beilby, John

AU - Davis, Mark

AU - Laing, Nigel

AU - Murphy, L.

AU - Weeramanthri, T.

AU - Dawkins, Hugh

AU - Goldblatt, Jack

PY - 2016

Y1 - 2016

N2 - 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.

AB - 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.

U2 - 10.1186/s13023-016-0462-7

DO - 10.1186/s13023-016-0462-7

M3 - Article

VL - 11

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

M1 - 77

ER -