Is it cost-effective to do genetic testing on all women with breast cancer?

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While current national and international guidelines recommend genetic testing in women with breast cancer who have relevant family history or clinical criteria, patients with breast cancer and genetic pathogenic variants do not always have a positive family history, potentially leading to improper screening for at-risk women. A recent study in JAMA Oncology estimated incremental lifetime effects, costs, and cost-effectiveness of multigene testing of all patients with breast cancer compared with the current practice of genetic testing (BRCA) based on family history or clinical criteria.

The microsimulation modeling study compared lifetime costs and effects of high-risk BRCA1/BRCA2/PALB2 (multigene) testing of all unselected patients with breast cancer (strategy A) against BRCA1/BRCA2 testing based on family history or clinical criteria (strategy B). Both strategies were evaluated with United Kingdom (UK) and US populations.

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Data were collected and analyzed from January 1, 2018 through June 8, 2019. Four large research studies supplied data from 11,836 patients in population-based BC cohorts (regardless of family history). The women in these cohorts were predominantly white and representative of a Western population ethnicity.  

For the model, all women with breast cancer underwent BRCA1/BRCA2/PALB2 testing in strategy A. In strategy B, only women with breast cancer fulfilling family history or clinical criteria underwent BRCA testing. BRCA/PALB2 carriers could undertake contralateral preventive mastectomy, while BRCA carriers could also choose to undergo risk-reducing salpingo-oophorectomy (RRSO). Those whose relatives were mutation carriers also underwent cascade testing. Unaffected relative carriers could undergo magnetic resonance imaging or mammographic screening, chemoprevention, or risk-reducing mastectomy for breast cancer risk and RRSO for ovarian cancer risk.

The authors calculated the incremental cost-effectiveness ratio as incremental cost per quality-adjusted life year (QALY) gained. This number was compared with standard £30,000/QALY and $100,000/QALY UK and US thresholds, respectively. All costs in the study were reported at 2016 prices. Incidence of ovarian and breast cancer, excess deaths due to heart disease, and the overall population effects were estimated. 

Based on the model results, the authors found that BRCA1/BRCA2/PALB2 multigene testing for all breast cancer patients would annually cost £10,464 QALY (payer perspective) or £7,216/QALY (societal perspective) in the UK and $65,661/QALY (payer perspective) or $61,618 QALY (societal perspective) in the United States when compared to current BRCAtesting based on clinical criteria or family history. 

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Testing all women with breast cancer was associated with an additional 419-day increase in life expectancy for UK and 298 days for US BRCA1/BRCA2/PALB2 pathogenic variant carriers. One year’s unselected genetic testing of all patients with breast cancer could prevent an additional 1,142 breast cancer cases and 959 ovarian cancer cases in the UK and 5,478 breast cancer cases and 4,255 ovarian cancer cases in the United States. This finding corresponds to 633 averted deaths due to cancer among UK populations and 2,406 averted deaths among US populations. 

The authors found that not only did unselected, high-risk multigene testing for all patients with breast cancer result in significant numbers of averted deaths, but it was also extremely cost-effective compared with testing based on family history or clinical criteria. They suggest that current policy needs to be amended so that genetic testing for all women with breast cancer is the recommended approach.