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Comment & Response
March 26, 2020

Future Research Suggestions for Multigene Testing in Unselected Populations—Reply

Author Affiliations
  • 1Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Queen Mary University of London, London, United Kingdom
  • 2Centre for Experimental Cancer Medicine, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom
  • 3Department of Gynaecological Oncology, Barts Health National Health System Trust, Royal London Hospital, London, United Kingdom
  • 4Kaiser Permanente Washington Health Research Institute, Seattle
  • 5Genomic Medicine, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St Mary’s Hospital, The University of Manchester, Manchester, United Kingdom
JAMA Oncol. Published online March 26, 2020. doi:10.1001/jamaoncol.2020.0131

In Reply Our cost-effectiveness analysis of multigene testing in 11 836 patients with breast cancer1 showed that unselected triple-gene testing for BRCA1, BRCA2, and PALB2 at breast cancer diagnosis would be cost-effective for the UK and US health systems, with incremental cost-effectiveness ratios of £10 464 or $65 661 per quality-adjusted life-year, respectively. Additionally, 1 year’s unselected genetic testing for BRCA1, BRCA2, and PALB2 could prevent 2101 cases of breast and ovarian cancer and 633 deaths in the UK and 9733 cases of breast and ovarian cancer and 2406 deaths in the US.1 Approximately 50% of pathogenic variant (formerly mutation) carriers are below the threshold for genetic testing used in most countries and are missed by current clinical criteria. Unselected testing will identify many more women at risk and provide a huge impetus for precision prevention and personalized treatment.

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