Oxley, Samuel;
Wei, Xia;
Sideris, Michail;
Manchanda, Ranjit;
(2023)
Cost-Effectiveness of Genetic Testing Strategies for Breast Cancer.
In: Masakazu, Toi, (ed.)
Screening and Risk Reduction Strategies for Breast Cancer.
(pp. 113-126).
Springer: Singapore.
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Abstract
The detection of pathogenic variants in cancer susceptibility genes such as BRCA1, BRCA2 and PALB2 allows breast cancer patients and their relatives to benefit from prevention of further breast and/or ovarian cancers. This includes screening and surgical prevention, including in the contralateral breast. It also now enables targeted treatments in some breast cancer patients. The current screening strategy in many countries limits genetic testing to those breast cancer patients who meet a family history/clinical criteria-based threshold of a 10% probability of a pathogenic variant. This fails to detect 50% of BRCA carriers; a huge missed opportunity for precision prevention. A strategy of ‘unselected’ genetic testing for BRCA1/BRCA2/PALB2 in all patients at breast cancer diagnosis would be cost-effective in both high- and middle-income countries, and could prevent 2101 breast and ovarian cancers in women in the UK, and 9733 breast and ovarian cancers in the USA. Such ‘unselected’ screening strategies have already been implemented in ovarian, endometrial and colorectal cancer settings. Genetic screening of the entire female population would offer the opportunity to prevent many more cancers before a preventable index breast/other cancer develops. Such population genetic testing is cost saving in the Ashkenazi Jewish population and is being introduced into clinical practice in this setting. Modelling studies have shown that this would be cost-effective for the general population in high-income countries, although further implementation studies are required to validate these results.
| Type: | Book chapter |
|---|---|
| Title: | Cost-Effectiveness of Genetic Testing Strategies for Breast Cancer |
| ISBN-13: | 9789811976292 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/978-981-19-7630-8_8 |
| Publisher version: | https://doi.org/10.1007/978-981-19-7630-8_8 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Breast cancer; genetic testing; cost-effective; population testing; risk stratification; BRCA; ovarian cancer; prevention |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10169136 |
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