Multigene Testing for Breast Cancer Patients Proves Cost-Effective

Health systems in the UK and USA could cost-effectively screen all women with breast cancer for risky germline changes in a handful of breast or ovarian cancer genes, according to a new economic modeling analysis, identifying at-risk individuals who could benefit from additional imaging tests and cancer-reducing interventions.

Knowing a patient’s genetic pathogenic variant status is important for the management and prognosis of breast cancer (BC). After unilateral BC, pathogenic variant carriers can choose contralateral prophylactic mastectomy (CPM) to reduce their risk of developing contralateral BC and opt for surgical prevention of ovarian cancer (OC).


An international team of scientists including those from the Royal London Hospital (London, UK) evaluated the cost-effectiveness and potential health effects of multigene testing in unselected breast cancer patients or in individuals who met current family history- or clinical feature-based criteria. The study was based on data for 11,836 breast cancer patients in the UK, USA, and Australia who were tested for high-risk variants in the BRCA1, BRCA2, and PALB2 genes, together with information on related screening strategies and interventions for those with cancer-related variants in these genes. The investigators concluded that the unselected approach was cost-effective for both payors and society in some 98% to 99% of UK health system simulations and between 64% and 68% of simulations done in the context of the USA health system.

Using incremental cost-effectiveness ratio analyses, the team estimated that unselected testing for women with breast cancer would cost the UK health payor £10,464 ($12,966) per quality-adjusted life year (QALY) gained by those tested, while the cost for USA payors would be $65,661 for each additional QALY. The societal cost estimates came in at £7,216 ($8,941) per QALY in the UK and $61,618 per QALY in the USA. The investigators projected that BRCA1, BRCA2, and PALB2 gene testing in all breast cancer patients over one year could translate into 2,101 fewer breast or ovarian cancer cases, for example, and 633 related deaths, in the UK. In the USA, the same analysis suggested that a year of unselected testing could prevent more than 9,700 cancer cases and 2,406 breast or ovarian cancer deaths.

Rosa Legood, PhD, an Associate Professor and co-senior author of the study, said, “Our analysis shows that testing all women with breast cancer for breast and ovarian cancer gene mutations is a more cost-effective strategy which can prevent these cancers in high-risk women and save lives. This approach has important implications given the effective options that are available for breast and ovarian cancer risk management and prevention for women at increased risk.” The study was published on October 3, 2019, in the journal JAMA Oncology.

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