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

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, MC; Mattiske, T; Tudini, E; Boggs, K; Murray, S; Wells, K; Cannings, J; Sinclair, AH; Christodoulou, J; North, KN

Author(s): 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, MC; Mattiske, T; Tudini, E; Boggs, K; Murray, S; Wells, K; Cannings, J; Sinclair, AH; Christodoulou, J; North, KN;
Details: Publication Year 2023-03-02,Volume 110,Issue #3,Page 419-426
Journal Title: American Journal of Human Genetics
Publication Type: Review
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.
Publisher: Cell Press
Keywords: Humans; Australia; *Genomics; *Health Policy; Rare Diseases; Delivery of Health Care
Department(s): Health Services Research; Medical Oncology; Pathology
PubMed ID: 36868206
Publisher's Version: https://doi.org/10.1016/j.ajhg.2023.01.018
Open Access at Publisher's Site: http://doi.org/10.1016/j.ajhg.2023.01.018
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2023-07-11 06:23:35

Last Modified: 2024-07-16 06:27:20