Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Zornitza Stark; Tiffany Boughtwood; Matilda Haas; Jeffrey Braithwaite; Clara L. Gaff; Ilias Goranitis; Amanda B. Spurdle; David P. Hansen; Oliver Hofmann; Nigel Laing; Sylvia Metcalfe; Ainsley J. Newson; Hamish S. Scott; Natalie Thorne; Robyn L. Ward; Marcel E. Dinger; Stephanie Best; Janet C. Long; Sean M. Grimmond; John Pearson; Nicola Waddell; Christopher P. Barnett; Matthew Cook; Michael Field; David Fielding; Stephen B. Fox; Jozef Gecz; Adam Jaffe; Richard J. Leventer; Paul J. Lockhart; Sebastian Lunke; Andrew J. Mallett; Julie McGaughran; Linda Mileshkin; Katia Nones; Tony Roscioli; Ingrid E. Scheffer; Christopher Semsarian; Cas Simons; David M. Thomas; David R. Thorburn; Richard Tothill; Deborah White; Sally Dunwoodie; Peter T. Simpson; Peta Phillips; Marie Jo Brion; Keri Finlay; Michael CJ Quinn; Tessa Mattiske; Emma Tudini; Kirsten Boggs; Sean Murray; Kathy Wells; John Cannings; Andrew H. Sinclair; John Christodoulou; Kathryn N. North

doi:10.1016/j.ajhg.2023.01.018

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John PearsonNicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie Jo Brion, Keri Finlay, Michael CJ Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North

Research output: Contribution to journal › Review article › peer-review

3 Citations (Scopus)

Abstract

Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.

Original language	English
Pages (from-to)	419-426
Number of pages	8
Journal	American Journal of Human Genetics
Volume	110
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2023.01.018
Publication status	Published or Issued - 2 Mar 2023
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1016/j.ajhg.2023.01.018

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Stark, Z., Boughtwood, T., Haas, M., Braithwaite, J., Gaff, C. L., Goranitis, I., Spurdle, A. B., Hansen, D. P., Hofmann, O., Laing, N., Metcalfe, S., Newson, A. J., Scott, H. S., Thorne, N., Ward, R. L., Dinger, M. E., Best, S., Long, J. C., Grimmond, S. M., ... North, K. N. (2023). Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American Journal of Human Genetics, 110(3), 419-426. https://doi.org/10.1016/j.ajhg.2023.01.018

@article{7bd6675cc9004a7daf2ddb0ce2f3c6a6,

title = "Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare",

abstract = "Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.",

author = "Zornitza Stark and Tiffany Boughtwood and Matilda Haas and Jeffrey Braithwaite and Gaff, {Clara L.} and Ilias Goranitis and Spurdle, {Amanda B.} and Hansen, {David P.} and Oliver Hofmann and Nigel Laing and Sylvia Metcalfe and Newson, {Ainsley J.} and Scott, {Hamish S.} and Natalie Thorne and Ward, {Robyn L.} and Dinger, {Marcel E.} and Stephanie Best and Long, {Janet C.} and Grimmond, {Sean M.} and John Pearson and Nicola Waddell and Barnett, {Christopher P.} and Matthew Cook and Michael Field and David Fielding and Fox, {Stephen B.} and Jozef Gecz and Adam Jaffe and Leventer, {Richard J.} and Lockhart, {Paul J.} and Sebastian Lunke and Mallett, {Andrew J.} and Julie McGaughran and Linda Mileshkin and Katia Nones and Tony Roscioli and Scheffer, {Ingrid E.} and Christopher Semsarian and Cas Simons and Thomas, {David M.} and Thorburn, {David R.} and Richard Tothill and Deborah White and Sally Dunwoodie and Simpson, {Peter T.} and Peta Phillips and Brion, {Marie Jo} and Keri Finlay and Quinn, {Michael CJ} and Tessa Mattiske and Emma Tudini and Kirsten Boggs and Sean Murray and Kathy Wells and John Cannings and Sinclair, {Andrew H.} and John Christodoulou and North, {Kathryn N.}",

note = "Funding Information: We would like to thank all participants, families, advisory board members, and research collaborators. The Australian Genomics Health Alliance (Australian Genomics) project was funded by an NHMRC Targeted Call for Research grant ( GNT1113531 ). Mackenzie{\textquoteright}s Mission, the Australian Genomics Cardiovascular Genetics Disorders Flagship, Massimo{\textquoteright}s Mission Leukodystrophy Flagship, and the Acute Care Flagship were funded by the Australian Government{\textquoteright}s Medical Research Futures Fund . Publisher Copyright: {\textcopyright} 2023 American Society of Human Genetics",

year = "2023",

month = mar,

day = "2",

doi = "10.1016/j.ajhg.2023.01.018",

language = "English",

volume = "110",

pages = "419--426",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

Stark, Z, Boughtwood, T, Haas, M, Braithwaite, J, Gaff, CL, Goranitis, I, Spurdle, AB, Hansen, DP, Hofmann, O, Laing, N, Metcalfe, S, Newson, AJ, Scott, HS, Thorne, N, Ward, RL, Dinger, ME, Best, S, Long, JC, Grimmond, SM, Pearson, J, Waddell, N, Barnett, CP, Cook, M, Field, M, Fielding, D, Fox, SB, Gecz, J, Jaffe, A, Leventer, RJ, Lockhart, PJ, Lunke, S, Mallett, AJ, McGaughran, J, Mileshkin, L, Nones, K, Roscioli, T, Scheffer, IE, Semsarian, C, Simons, C, Thomas, DM, Thorburn, DR, Tothill, R, White, D, Dunwoodie, S, Simpson, PT, Phillips, P, Brion, MJ, Finlay, K, Quinn, MCJ, Mattiske, T, Tudini, E, Boggs, K, Murray, S, Wells, K, Cannings, J, Sinclair, AH, Christodoulou, J & North, KN 2023, 'Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare', American Journal of Human Genetics, vol. 110, no. 3, pp. 419-426. https://doi.org/10.1016/j.ajhg.2023.01.018

TY - JOUR

T1 - Australian Genomics

T2 - Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

AU - Stark, Zornitza

AU - Boughtwood, Tiffany

AU - Haas, Matilda

AU - Braithwaite, Jeffrey

AU - Gaff, Clara L.

AU - Goranitis, Ilias

AU - Spurdle, Amanda B.

AU - Hansen, David P.

AU - Hofmann, Oliver

AU - Laing, Nigel

AU - Metcalfe, Sylvia

AU - Newson, Ainsley J.

AU - Scott, Hamish S.

AU - Thorne, Natalie

AU - Ward, Robyn L.

AU - Dinger, Marcel E.

AU - Best, Stephanie

AU - Long, Janet C.

AU - Grimmond, Sean M.

AU - Pearson, John

AU - Waddell, Nicola

AU - Barnett, Christopher P.

AU - Cook, Matthew

AU - Field, Michael

AU - Fielding, David

AU - Fox, Stephen B.

AU - Gecz, Jozef

AU - Jaffe, Adam

AU - Leventer, Richard J.

AU - Lockhart, Paul J.

AU - Lunke, Sebastian

AU - Mallett, Andrew J.

AU - McGaughran, Julie

AU - Mileshkin, Linda

AU - Nones, Katia

AU - Roscioli, Tony

AU - Scheffer, Ingrid E.

AU - Semsarian, Christopher

AU - Simons, Cas

AU - Thomas, David M.

AU - Thorburn, David R.

AU - Tothill, Richard

AU - White, Deborah

AU - Dunwoodie, Sally

AU - Simpson, Peter T.

AU - Phillips, Peta

AU - Brion, Marie Jo

AU - Finlay, Keri

AU - Quinn, Michael CJ

AU - Mattiske, Tessa

AU - Tudini, Emma

AU - Boggs, Kirsten

AU - Murray, Sean

AU - Wells, Kathy

AU - Cannings, John

AU - Sinclair, Andrew H.

AU - Christodoulou, John

AU - North, Kathryn N.

N1 - Funding Information: We would like to thank all participants, families, advisory board members, and research collaborators. The Australian Genomics Health Alliance (Australian Genomics) project was funded by an NHMRC Targeted Call for Research grant ( GNT1113531 ). Mackenzie’s Mission, the Australian Genomics Cardiovascular Genetics Disorders Flagship, Massimo’s Mission Leukodystrophy Flagship, and the Acute Care Flagship were funded by the Australian Government’s Medical Research Futures Fund . Publisher Copyright: © 2023 American Society of Human Genetics

PY - 2023/3/2

Y1 - 2023/3/2

N2 - Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.

AB - Australian Genomics is a national collaborative partnership of more than 100 organizations piloting a whole-of-system approach to integrating genomics into healthcare, based on federation principles. In the first five years of operation, Australian Genomics has evaluated the outcomes of genomic testing in more than 5,200 individuals across 19 rare disease and cancer flagship studies. Comprehensive analyses of the health economic, policy, ethical, legal, implementation and workforce implications of incorporating genomics in the Australian context have informed evidence-based change in policy and practice, resulting in national government funding and equity of access for a range of genomic tests. Simultaneously, Australian Genomics has built national skills, infrastructure, policy, and data resources to enable effective data sharing to drive discovery research and support improvements in clinical genomic delivery.

UR - http://www.scopus.com/inward/record.url?scp=85149250969&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2023.01.018

DO - 10.1016/j.ajhg.2023.01.018

M3 - Review article

AN - SCOPUS:85149250969

SN - 0002-9297

VL - 110

SP - 419

EP - 426

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

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