Projects per year
Abstract
Background: Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. Methods: This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken. Results: Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing. Conclusions: These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability.
Original language | English |
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Article number | 74 |
Number of pages | 16 |
Journal | Genome Medicine |
Volume | 15 |
DOIs | |
Publication status | Published - 19 Sept 2023 |
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Dive into the research topics of 'The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study'. Together they form a unique fingerprint.Datasets
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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Davidson, A. L. (Creator), Dressel, U. (Creator), Norris, S. (Creator), Canson, D. M. (Creator), Glubb, D. M. (Creator), Fortuno, C. (Creator), Hollway, G. E. (Creator), Parsons, M. T. (Creator), Vidgen, M. E. (Creator), Holmes, O. (Creator), Koufariotis, L. T. (Creator), Lakis, V. (Creator), Leonard, C. (Creator), Wood, S. (Creator), Xu, Q. (Creator), McCart Reed, A. E. (Creator), Pickett, H. A. (Creator), Al-Shinnag, M. K. (Creator), Austin, R. L. (Creator), Burke, J. (Creator), Cops, E. J. (Creator), Nichols, C. B. (Creator), Goodwin, A. (Creator), Harris, M. T. (Creator), Higgins, M. J. (Creator), Ip, E. L. (Creator), Kiraly-Borri, C. (Creator), Lau, C. (Creator), Mansour, J. L. (Creator), Millward, M. W. (Creator), Monnik, M. J. (Creator), Pachter, N. S. (Creator), Ragunathan, A. (Creator), Susman, R. D. (Creator), Townshend, S. L. (Creator), Trainer, A. H. (Creator), Troth, S. L. (Creator), Tucker, K. M. (Creator), Wallis, M. J. (Creator), Walsh, M. (Creator), Williams, R. A. (Creator), Winship, I. M. (Creator), Newell, F. (Creator), Tudini, E. (Creator), Pearson, J. V. (Creator), Poplawski, N. K. (Creator), Mar Fan, H. G. (Creator), James, P. A. (Creator), Spurdle, A. B. (Creator), Waddell, N. (Creator) & Ward, R. L. (Creator), Figshare, 19 Sept 2023
DOI: 10.6084/m9.figshare.24159315.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_clinical_utility_and_costs_of_whole-genome_sequencing_to_detect_cancer_susceptibility_variants_a_multi-site_prospective_cohort_study/24159315/1
Dataset
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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Davidson, A. L. (Creator), Dressel, U. (Creator), Norris, S. (Creator), Canson, D. M. (Creator), Glubb, D. M. (Creator), Fortuno, C. (Creator), Hollway, G. E. (Creator), Parsons, M. T. (Creator), Vidgen, M. E. (Creator), Holmes, O. (Creator), Koufariotis, L. T. (Creator), Lakis, V. (Creator), Leonard, C. (Creator), Wood, S. (Creator), Xu, Q. (Creator), McCart Reed, A. E. (Creator), Pickett, H. A. (Creator), Al-Shinnag, M. K. (Creator), Austin, R. L. (Creator), Burke, J. (Creator), Cops, E. J. (Creator), Nichols, C. B. (Creator), Goodwin, A. (Creator), Harris, M. T. (Creator), Higgins, M. J. (Creator), Ip, E. L. (Creator), Kiraly-Borri, C. (Creator), Lau, C. (Creator), Mansour, J. L. (Creator), Millward, M. W. (Creator), Monnik, M. J. (Creator), Pachter, N. S. (Creator), Ragunathan, A. (Creator), Susman, R. D. (Creator), Townshend, S. L. (Creator), Trainer, A. H. (Creator), Troth, S. L. (Creator), Tucker, K. M. (Creator), Wallis, M. J. (Creator), Walsh, M. (Creator), Williams, R. A. (Creator), Winship, I. M. (Creator), Newell, F. (Creator), Tudini, E. (Creator), Pearson, J. V. (Creator), Poplawski, N. K. (Creator), Mar Fan, H. G. (Creator), James, P. A. (Creator), Spurdle, A. B. (Creator), Waddell, N. (Creator) & Ward, R. L. (Creator), Figshare, 2023
DOI: 10.6084/m9.figshare.24159315, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_clinical_utility_and_costs_of_whole-genome_sequencing_to_detect_cancer_susceptibility_variants_a_multi-site_prospective_cohort_study/24159315
Dataset
Projects
- 2 Finished
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Australian Genomics 2.0
Laing, N. (Investigator 01), Davis, M. (Investigator 02) & Nowak, K. (Investigator 03)
NHMRC National Health and Medical Research Council
1/01/21 → 31/03/24
Project: Research
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Preparing Australia for Genomic Medicine - A proposal by the Australian Genomics Health Alliance
Laing, N. (Investigator 01)
Medical Research Future Fund MRFF
1/10/18 → 31/12/22
Project: Research